{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q96EV8","secondaryAccessions":["A8K3V3","Q5THY3","Q5THY4","Q96NV2","Q9H0U2","Q9H3J5"],"uniProtkbId":"DTBP1_HUMAN","entryAudit":{"firstPublicDate":"2003-11-28","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2001-12-01","entryVersion":194,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Dysbindin"}},"alternativeNames":[{"fullName":{"value":"Biogenesis of lysosome-related organelles complex 1 subunit 8"},"shortNames":[{"value":"BLOC-1 subunit 8"}]},{"fullName":{"value":"Dysbindin-1"}},{"fullName":{"value":"Dystrobrevin-binding protein 1"}},{"fullName":{"value":"Hermansky-Pudlak syndrome 7 protein"},"shortNames":[{"value":"HPS7 protein"}]}]},"genes":[{"geneName":{"value":"DTNBP1"},"synonyms":[{"value":"BLOC1S8"}],"orfNames":[{"value":"My031"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15345706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16837549"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17182842"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17989303"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19094965"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20180862"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20921223"}],"value":"Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16837549"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16980328"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17182842"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19142223"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19349376"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19428785"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20921223"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22203680"}],"value":"Interacts (via its coiled coil domain) with KXD1. Interacts with CMYA5, PI4K2 and RNF151 (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of at least BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts directly in the complex with BLOC1S5, BLOC1S6 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. This BLOC-1 complex also associates with the BLOC-2 complex in endosomes. Binds to DTNA and DTNB but may not be a physiological binding partner (PubMed:16980328). Interacts (isoform 1 and isoform 2 only) with the DNA-dependent protein kinase complex DNA-PK; the interaction phosphorylates DTNBP1 in vitro. Interacts directly in this complex with XRCC5 and XRCC6. Interacts with AP3M1, AP3B2 and TRIM32. Interacts with XPO1; the interaction exports DTNBP1 out of the nucleus"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q8TDH9","geneName":"BLOC1S5","intActId":"EBI-465861"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q9UL45","geneName":"BLOC1S6","intActId":"EBI-465781"},"numberOfExperiments":13,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q8WUW1","geneName":"BRK1","intActId":"EBI-2837444"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q8IYE0-2","geneName":"CCDC146","intActId":"EBI-10247802"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q8TD31-3","geneName":"CCHCR1","intActId":"EBI-10175300"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q494R4","geneName":"DRC12","intActId":"EBI-10241443"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"O60941","geneName":"DTNB","intActId":"EBI-740402"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"A1L3X0","geneName":"ELOVL7","intActId":"EBI-10285373"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q96CS2","geneName":"HAUS1","intActId":"EBI-2514791"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q8IY31","geneName":"IFT20","intActId":"EBI-744203"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q7Z3B3","geneName":"KANSL1","intActId":"EBI-740244"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q9BVG8","geneName":"KIFC3","intActId":"EBI-2125614"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"O95678","geneName":"KRT75","intActId":"EBI-2949715"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q7Z6G3-2","geneName":"NECAB2","intActId":"EBI-10172876"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"O43482","geneName":"OIP5","intActId":"EBI-536879"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q7Z4N8","geneName":"P4HA3","intActId":"EBI-10181968"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"O00560","geneName":"SDCBP","intActId":"EBI-727004"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q9NUL5","geneName":"SHFL","intActId":"EBI-10313866"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"O95295","geneName":"SNAPIN","intActId":"EBI-296723"},"numberOfExperiments":10,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"A1L4H1","geneName":"SSC5D","intActId":"EBI-10172867"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q9NX95","geneName":"SYBU","intActId":"EBI-948293"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"P14373","geneName":"TRIM27","intActId":"EBI-719493"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q86WT6","geneName":"TRIM69","intActId":"EBI-749955"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q8N3L3","geneName":"TXLNB","intActId":"EBI-6116822"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8","intActId":"EBI-465804"},"interactantTwo":{"uniProtKBAccession":"Q9Y3C0","geneName":"WASHC3","intActId":"EBI-712969"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96EV8-1","intActId":"EBI-16749108"},"interactantTwo":{"uniProtKBAccession":"P13010","geneName":"XRCC5","intActId":"EBI-357997"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 1","note":{"texts":[{"value":"Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic vesicle membrane","id":"SL-0089"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Endosome membrane","id":"SL-0100"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Melanosome membrane","id":"SL-0160"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Postsynaptic density","id":"SL-0297"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Endoplasmic reticulum","id":"SL-0095"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 2","note":{"texts":[{"value":"Shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also highly expressed in the nucleus. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic vesicle membrane","id":"SL-0089"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane","id":"SL-0260"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Endosome membrane","id":"SL-0100"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Melanosome membrane","id":"SL-0160"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Postsynaptic cell membrane","id":"SL-0219"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Endoplasmic reticulum","id":"SL-0095"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 3","note":{"texts":[{"value":"Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic vesicle membrane","id":"SL-0089"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane","id":"SL-0260"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Endosome membrane","id":"SL-0100"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Melanosome membrane","id":"SL-0160"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21390302"}],"value":"Postsynaptic cell membrane","id":"SL-0219"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing","Alternative initiation"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"Dysbindin 1-A"}],"isoformIds":["Q96EV8-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q96EV8-2"],"sequenceIds":["VSP_009023"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"Dysbindin 1-B"}],"isoformIds":["Q96EV8-3"],"sequenceIds":["VSP_046062"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16980328"}],"value":"Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2 and 3 in the HF than in the pSTG while isoform 1 shows no difference in expression in these areas. In the HF, detected in dentate gyrus (DG) and in pyramidal cells of hippocampus CA2 and CA3 (at protein level). Expressed in all principal neuronal populations of the HF, namely pyramidal neurons in the subiculum and CA1-3, granule cells in the dense cell layer of the DG (DGg), and polymorph cells in the hilus of the DG (DGh). Maximal levels in CA2, CA3, and DGh. Isoform 2 not expressed in the cerebral cortex"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19349376"}],"value":"Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19142223"}],"value":"Isoforms 1 and 2 highly phosphorylated by PRKDC in vitro. Isoform 3 only weakly phosphorylated by PRKDC in vitro"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Hermansky-Pudlak syndrome 7","diseaseAccession":"DI-00563","acronym":"HPS7","description":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.","diseaseCrossReference":{"database":"MIM","id":"614076"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12923531"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15124027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15345706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19617633"}],"value":"Defects in DTNBP1 are associated with susceptibility to schizophrenia, a mental disorder characterized by a breakdown of thought processes and by poor emotional responsiveness. Genetic mutations lead to alterations in the glutamatergic transmission in the brain and modified Akt signaling (PubMed:15345706). Protein levels and expression are reduced in nerve terminals of the hippocampus and there is an increased release of glutamate in schizophrenic patients (PubMed:15124027). Levels of isoform 1 are reduced in the pSTG, but not in HF, by about 48% in 92% of schizophrenic patients. In the HF, there is an average of 33% reduction in synaptic expression of isoform 2 in 67% of cases, and of isoform 3, an average reduction of 35% in 80% of cases. In the dorsolateral prefrontal cortex (DLPFC), significant reductions in levels of isoform 3 are observed about 71% of schizophrenic patients showed an average reduction of this isoform of about 60% (PubMed:19617633)"}]}},{"texts":[{"value":"Major isoform"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be due to intron retention"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the dysbindin family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAG43145.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":351,"modifier":"EXACT"}},"description":"Dysbindin","featureId":"PRO_0000191001"},{"type":"Region","location":{"start":{"value":173,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"Dysbindin"},{"type":"Region","location":{"start":{"value":286,"modifier":"EXACT"},"end":{"value":351,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":88,"modifier":"EXACT"},"end":{"value":181,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Motif","location":{"start":{"value":243,"modifier":"EXACT"},"end":{"value":256,"modifier":"EXACT"}},"description":"Nuclear export signal"},{"type":"Compositional bias","location":{"start":{"value":296,"modifier":"EXACT"},"end":{"value":305,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":11,"modifier":"EXACT"},"end":{"value":11,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":316,"modifier":"EXACT"},"end":{"value":316,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":321,"modifier":"EXACT"},"end":{"value":321,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":349,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91WZ8"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":81,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_046062","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":272,"modifier":"EXACT"},"end":{"value":351,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11230166"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_009023","alternativeSequence":{"originalSequence":"PESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS","alternativeSequences":["RVDKLALAEPGQYRCHSPPKVRRENHLPVTYA"]}},{"type":"Natural variant","location":{"start":{"value":214,"modifier":"EXACT"},"end":{"value":214,"modifier":"EXACT"}},"description":"in dbSNP:rs16876589","featureCrossReferences":[{"database":"dbSNP","id":"rs16876589"}],"featureId":"VAR_053069","alternativeSequence":{"originalSequence":"G","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":272,"modifier":"EXACT"},"end":{"value":272,"modifier":"EXACT"}},"description":"in dbSNP:rs17470454","featureCrossReferences":[{"database":"dbSNP","id":"rs17470454"}],"featureId":"VAR_029644","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Mutagenesis","location":{"start":{"value":215,"modifier":"EXACT"},"end":{"value":215,"modifier":"EXACT"}},"description":"Reduced interaction with AP3M1.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19428785"}],"alternativeSequence":{"originalSequence":"Y","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":243,"modifier":"EXACT"},"end":{"value":256,"modifier":"EXACT"}},"description":"Abolishes cytoplasmic location. Increased expression of SYN1.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20921223"}],"alternativeSequence":{"originalSequence":"LMDISDQEALDVFL","alternativeSequences":["AMDASDQEAADVFA"]}},{"type":"Sequence conflict","location":{"start":{"value":242,"modifier":"EXACT"},"end":{"value":242,"modifier":"EXACT"}},"description":"in Ref. 3; CAB66572","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["V"]}}],"keywords":[{"id":"KW-0015","category":"Disease","name":"Albinism"},{"id":"KW-0024","category":"Coding sequence diversity","name":"Alternative initiation"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0968","category":"Cellular component","name":"Cytoplasmic vesicle"},{"id":"KW-0256","category":"Cellular component","name":"Endoplasmic reticulum"},{"id":"KW-0967","category":"Cellular component","name":"Endosome"},{"id":"KW-0363","category":"Disease","name":"Hermansky-Pudlak syndrome"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-0628","category":"Cellular component","name":"Postsynaptic cell membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-1211","category":"Disease","name":"Schizophrenia"},{"id":"KW-0716","category":"Biological process","name":"Sensory transduction"},{"id":"KW-0770","category":"Cellular component","name":"Synapse"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"12923531","citationType":"journal article","authors":["Li W.","Zhang Q.","Oiso N.","Novak E.K.","Gautam R.","O'Brien E.P.","Tinsley C.L.","Blake D.J.","Spritz R.A.","Copeland N.G.","Jenkins N.A.","Amato D.","Roe B.A.","Starcevic M.","Dell'Angelica E.C.","Elliott R.W.","Mishra V.","Kingsmore S.F.","Paylor R.E.","Swank R.T."],"citationCrossReferences":[{"database":"PubMed","id":"12923531"},{"database":"DOI","id":"10.1038/ng1229"}],"title":"Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).","publicationDate":"2003","journal":"Nat. Genet.","firstPage":"84","lastPage":"89","volume":"35"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","INVOLVEMENT IN HPS7"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"CI-C3BAR98FN6QR2","citationType":"submission","authors":["Jiang Y.","Straub R.E.","Sullivan P.F.","Chen X.","O'Neill F.A.","Walsh D.","Kendler K.S.","Riley B.P."],"title":"Localization and identification of a human DTNBP1 gene from a putative schizophrenia susceptibility locus on 6p22.3 by in silico cloning.","publicationDate":"JUN-2001","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"11230166","citationType":"journal article","authors":["Wiemann S.","Weil B.","Wellenreuther R.","Gassenhuber J.","Glassl S.","Ansorge W.","Boecher M.","Bloecker H.","Bauersachs S.","Blum H.","Lauber J.","Duesterhoeft A.","Beyer A.","Koehrer K.","Strack N.","Mewes H.-W.","Ottenwaelder B.","Obermaier B.","Tampe J.","Heubner D.","Wambutt R.","Korn B.","Klein M.","Poustka A."],"citationCrossReferences":[{"database":"PubMed","id":"11230166"},{"database":"DOI","id":"10.1101/gr.gr1547r"}],"title":"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.","publicationDate":"2001","journal":"Genome Res.","firstPage":"422","lastPage":"435","volume":"11"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)"],"referenceComments":[{"value":"Lung","type":"TISSUE"},{"value":"Neuroblastoma","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"14574404","citationType":"journal article","authors":["Mungall A.J.","Palmer S.A.","Sims S.K.","Edwards C.A.","Ashurst J.L.","Wilming L.","Jones M.C.","Horton R.","Hunt S.E.","Scott C.E.","Gilbert J.G.R.","Clamp M.E.","Bethel G.","Milne S.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews T.D.","Ashwell R.I.S.","Babbage A.K.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beare D.M.","Beasley H.","Beasley O.","Bird C.P.","Blakey S.E.","Bray-Allen S.","Brook J.","Brown A.J.","Brown J.Y.","Burford D.C.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Clark S.Y.","Clark G.","Clee C.M.","Clegg S.","Cobley V.","Collier R.E.","Collins J.E.","Colman L.K.","Corby N.R.","Coville G.J.","Culley K.M.","Dhami P.","Davies J.","Dunn M.","Earthrowl M.E.","Ellington A.E.","Evans K.A.","Faulkner L.","Francis M.D.","Frankish A.","Frankland J.","French L.","Garner P.","Garnett J.","Ghori M.J.","Gilby L.M.","Gillson C.J.","Glithero R.J.","Grafham D.V.","Grant M.","Gribble S.","Griffiths C.","Griffiths M.N.D.","Hall R.","Halls K.S.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Heathcott R.","Holmes S.J.","Howden P.J.","Howe K.L.","Howell G.R.","Huckle E.","Humphray S.J.","Humphries M.D.","Hunt A.R.","Johnson C.M.","Joy A.A.","Kay M.","Keenan S.J.","Kimberley A.M.","King A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.R.","Lloyd D.M.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Maslen G.L.","Matthews L.","McCann O.T.","McLaren S.J.","McLay K.","McMurray A.","Moore M.J.F.","Mullikin J.C.","Niblett D.","Nickerson T.","Novik K.L.","Oliver K.","Overton-Larty E.K.","Parker A.","Patel R.","Pearce A.V.","Peck A.I.","Phillimore B.J.C.T.","Phillips S.","Plumb R.W.","Porter K.M.","Ramsey Y.","Ranby S.A.","Rice C.M.","Ross M.T.","Searle S.M.","Sehra H.K.","Sheridan E.","Skuce C.D.","Smith S.","Smith M.","Spraggon L.","Squares S.L.","Steward C.A.","Sycamore N.","Tamlyn-Hall G.","Tester J.","Theaker A.J.","Thomas D.W.","Thorpe A.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","White S.S.","Whitehead S.L.","Whittaker H.","Wild A.","Willey D.J.","Wilmer T.E.","Wood J.M.","Wray P.W.","Wyatt J.C.","Young L.","Younger R.M.","Bentley D.R.","Coulson A.","Durbin R.M.","Hubbard T.","Sulston J.E.","Dunham I.","Rogers J.","Beck S."],"citationCrossReferences":[{"database":"PubMed","id":"14574404"},{"database":"DOI","id":"10.1038/nature02055"}],"title":"The DNA sequence and analysis of human chromosome 6.","publicationDate":"2003","journal":"Nature","firstPage":"805","lastPage":"811","volume":"425"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":6,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Muscle","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"CI-3IRO5NKTB7VEI","citationType":"submission","authors":["Mao Y.M.","Xie Y.","Ying K."],"publicationDate":"APR-1998","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 109-351 (ISOFORM 1)"],"referenceComments":[{"value":"Fetal brain","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"15345706","citationType":"journal article","authors":["Numakawa T.","Yagasaki Y.","Ishimoto T.","Okada T.","Suzuki T.","Iwata N.","Ozaki N.","Taguchi T.","Tatsumi M.","Kamijima K.","Straub R.E.","Weinberger D.R.","Kunugi H.","Hashimoto R."],"citationCrossReferences":[{"database":"PubMed","id":"15345706"},{"database":"DOI","id":"10.1093/hmg/ddh280"}],"title":"Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia.","publicationDate":"2004","journal":"Hum. Mol. Genet.","firstPage":"2699","lastPage":"2708","volume":"13"},"referencePositions":["ASSOCIATION WITH SCHIZOPHRENIA","FUNCTION"]},{"referenceNumber":9,"citation":{"id":"15124027","citationType":"journal article","authors":["Talbot K.","Eidem W.L.","Tinsley C.L.","Benson M.A.","Thompson E.W.","Smith R.J.","Hahn C.G.","Siegel S.J.","Trojanowski J.Q.","Gur R.E.","Blake D.J.","Arnold S.E."],"citationCrossReferences":[{"database":"PubMed","id":"15124027"},{"database":"DOI","id":"10.1172/jci20425"}],"title":"Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.","publicationDate":"2004","journal":"J. Clin. Invest.","firstPage":"1353","lastPage":"1363","volume":"113"},"referencePositions":["ASSOCIATION WITH SCHIZOPHRENIA","TISSUE SPECIFICITY (ISOFORMS 1 AND 2)","SUBCELLULAR LOCATION"]},{"referenceNumber":10,"citation":{"id":"16980328","citationType":"journal article","authors":["Talbot K.","Cho D.S.","Ong W.Y.","Benson M.A.","Han L.Y.","Kazi H.A.","Kamins J.","Hahn C.G.","Blake D.J.","Arnold S.E."],"citationCrossReferences":[{"database":"PubMed","id":"16980328"},{"database":"DOI","id":"10.1093/hmg/ddl246"}],"title":"Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.","publicationDate":"2006","journal":"Hum. Mol. Genet.","firstPage":"3041","lastPage":"3054","volume":"15"},"referencePositions":["TISSUE SPECIFICITY","SUBCELLULAR LOCATION"]},{"referenceNumber":11,"citation":{"id":"16837549","citationType":"journal article","authors":["Di Pietro S.M.","Falcon-Perez J.M.","Tenza D.","Setty S.R.","Marks M.S.","Raposo G.","Dell'Angelica E.C."],"citationCrossReferences":[{"database":"PubMed","id":"16837549"},{"database":"DOI","id":"10.1091/mbc.e06-05-0379"}],"title":"BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.","publicationDate":"2006","journal":"Mol. Biol. Cell","firstPage":"4027","lastPage":"4038","volume":"17"},"referencePositions":["FUNCTION","SUBUNIT","SUBCELLULAR LOCATION"]},{"referenceNumber":12,"citation":{"id":"17182842","citationType":"journal article","authors":["Setty S.R.","Tenza D.","Truschel S.T.","Chou E.","Sviderskaya E.V.","Theos A.C.","Lamoreux M.L.","Di Pietro S.M.","Starcevic M.","Bennett D.C.","Dell'Angelica E.C.","Raposo G.","Marks M.S."],"citationCrossReferences":[{"database":"PubMed","id":"17182842"},{"database":"DOI","id":"10.1091/mbc.e06-12-1066"}],"title":"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.","publicationDate":"2007","journal":"Mol. Biol. Cell","firstPage":"768","lastPage":"780","volume":"18"},"referencePositions":["IDENTIFICATION IN THE BLOC-1 COMPLEX","FUNCTION"]},{"referenceNumber":13,"citation":{"id":"17989303","citationType":"journal article","authors":["Iizuka Y.","Sei Y.","Weinberger D.R.","Straub R.E."],"citationCrossReferences":[{"database":"PubMed","id":"17989303"},{"database":"DOI","id":"10.1523/jneurosci.1689-07.2007"}],"title":"Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization.","publicationDate":"2007","journal":"J. Neurosci.","firstPage":"12390","lastPage":"12395","volume":"27"},"referencePositions":["FUNCTION"]},{"referenceNumber":14,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-316 AND SER-321","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":15,"citation":{"id":"19617633","citationType":"journal article","authors":["Tang J.","LeGros R.P.","Louneva N.","Yeh L.","Cohen J.W.","Hahn C.G.","Blake D.J.","Arnold S.E.","Talbot K."],"citationCrossReferences":[{"database":"PubMed","id":"19617633"},{"database":"DOI","id":"10.1093/hmg/ddp329"}],"title":"Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.","publicationDate":"2009","journal":"Hum. Mol. Genet.","firstPage":"3851","lastPage":"3863","volume":"18"},"referencePositions":["ASSOCIATION WITH SCHIZOPHRENIA"]},{"referenceNumber":16,"citation":{"id":"19690332","citationType":"journal article","authors":["Mayya V.","Lundgren D.H.","Hwang S.-I.","Rezaul K.","Wu L.","Eng J.K.","Rodionov V.","Han D.K."],"citationCrossReferences":[{"database":"PubMed","id":"19690332"},{"database":"DOI","id":"10.1126/scisignal.2000007"}],"title":"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.","publicationDate":"2009","journal":"Sci. Signal.","firstPage":"RA46","lastPage":"RA46","volume":"2"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-316 AND SER-321","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":17,"citation":{"id":"CI-BD6V0JU5L24EP","citationType":"book","authors":["Talbot K.","Ong W.-Y.","Blake D.J.","Tang J.","Louneva N.","Carlson G.C.","Arnold S.E."],"title":"Dysbindin-1 and its protein family with special attention to the potential role of dysbindin-1 in neuronal functions and the pathophysiology of schizophrenia.","publicationDate":"2009","bookName":"Handbook of neurochemistry and molecular neurobiology (3rd ed.)","editors":["Javitt D.C.","Kantrowitz J."],"firstPage":"107","lastPage":"241","volume":"27","publisher":"Springer Science","address":"New York"},"referencePositions":["REVIEW"]},{"referenceNumber":18,"citation":{"id":"19094965","citationType":"journal article","authors":["Kubota K.","Kumamoto N.","Matsuzaki S.","Hashimoto R.","Hattori T.","Okuda H.","Takamura H.","Takeda M.","Katayama T.","Tohyama M."],"citationCrossReferences":[{"database":"PubMed","id":"19094965"},{"database":"DOI","id":"10.1016/j.bbrc.2008.12.017"}],"title":"Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization.","publicationDate":"2009","journal":"Biochem. Biophys. Res. Commun.","firstPage":"191","lastPage":"195","volume":"379"},"referencePositions":["FUNCTION"]},{"referenceNumber":19,"citation":{"id":"19349376","citationType":"journal article","authors":["Locke M.","Tinsley C.L.","Benson M.A.","Blake D.J."],"citationCrossReferences":[{"database":"PubMed","id":"19349376"},{"database":"DOI","id":"10.1093/hmg/ddp167"}],"title":"TRIM32 is an E3 ubiquitin ligase for dysbindin.","publicationDate":"2009","journal":"Hum. Mol. Genet.","firstPage":"2344","lastPage":"2358","volume":"18"},"referencePositions":["INTERACTION WITH TRIM32","SUBCELLULAR LOCATION","UBIQUITINATION"]},{"referenceNumber":20,"citation":{"id":"19428785","citationType":"journal article","authors":["Taneichi-Kuroda S.","Taya S.","Hikita T.","Fujino Y.","Kaibuchi K."],"citationCrossReferences":[{"database":"PubMed","id":"19428785"},{"database":"DOI","id":"10.1016/j.neuint.2009.01.014"}],"title":"Direct interaction of dysbindin with the AP-3 complex via its mu subunit.","publicationDate":"2009","journal":"Neurochem. Int.","firstPage":"431","lastPage":"438","volume":"54"},"referencePositions":["INTERACTION WITH AP3M1","MUTAGENESIS OF TYR-215"]},{"referenceNumber":21,"citation":{"id":"19142223","citationType":"journal article","authors":["Oyama S.","Yamakawa H.","Sasagawa N.","Hosoi Y.","Futai E.","Ishiura S."],"citationCrossReferences":[{"database":"PubMed","id":"19142223"},{"database":"DOI","id":"10.1371/journal.pone.0004199"}],"title":"Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA-dependent protein kinase complex in an isoform-dependent manner.","publicationDate":"2009","journal":"PLoS ONE","firstPage":"E4199","lastPage":"E4199","volume":"4"},"referencePositions":["SUBCELLULAR LOCATION","ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3)","INTERACTION WITH AP3B2; XRCC5 AND XRCC6 IN THE DNA-DEPENDENT PROTEIN KINASE COMPLEX DNA-PK","PHOSPHORYLATION"]},{"referenceNumber":22,"citation":{"id":"20180862","citationType":"journal article","authors":["Fallgatter A.J.","Ehlis A.C.","Herrmann M.J.","Hohoff C.","Reif A.","Freitag C.M.","Deckert J."],"citationCrossReferences":[{"database":"PubMed","id":"20180862"},{"database":"DOI","id":"10.1111/j.1601-183x.2010.00574.x"}],"title":"DTNBP1 (dysbindin) gene variants modulate prefrontal brain function in schizophrenic patients--support for the glutamate hypothesis of schizophrenias.","publicationDate":"2010","journal":"Genes Brain Behav.","firstPage":"489","lastPage":"497","volume":"9"},"referencePositions":["ASSOCIATION WITH SCHIZOPHRENIA","FUNCTION"]},{"referenceNumber":23,"citation":{"id":"20921223","citationType":"journal article","authors":["Fei E.","Ma X.","Zhu C.","Xue T.","Yan J.","Xu Y.","Zhou J.","Wang G."],"citationCrossReferences":[{"database":"PubMed","id":"20921223"},{"database":"DOI","id":"10.1074/jbc.m110.107912"}],"title":"Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.","publicationDate":"2010","journal":"J. Biol. Chem.","firstPage":"38630","lastPage":"38640","volume":"285"},"referencePositions":["SUBCELLULAR LOCATION","FUNCTION","INTERACTION WITH XPO1","MUTAGENESIS OF 243-LEU--LEU-256"]},{"referenceNumber":24,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":25,"citation":{"id":"21390302","citationType":"journal article","authors":["Talbot K.","Louneva N.","Cohen J.W.","Kazi H.","Blake D.J.","Arnold S.E."],"citationCrossReferences":[{"database":"PubMed","id":"21390302"},{"database":"DOI","id":"10.1371/journal.pone.0016886"}],"title":"Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location.","publicationDate":"2011","journal":"PLoS ONE","firstPage":"E16886","lastPage":"E16886","volume":"6"},"referencePositions":["ASSOCIATION WITH SCHIZOPHRENIA","TISSUE SPECIFICITY (ISOFORMS 1; 2 AND 3)","SUBCELLULAR LOCATION (ISOFORMS 1; 2 AND 3)"]},{"referenceNumber":26,"citation":{"id":"22203680","citationType":"journal article","authors":["Lee H.H.","Nemecek D.","Schindler C.","Smith W.J.","Ghirlando R.","Steven A.C.","Bonifacino J.S.","Hurley J.H."],"citationCrossReferences":[{"database":"PubMed","id":"22203680"},{"database":"DOI","id":"10.1074/jbc.m111.325746"}],"title":"Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).","publicationDate":"2012","journal":"J. Biol. Chem.","firstPage":"5882","lastPage":"5890","volume":"287"},"referencePositions":["IDENTIFICATION IN THE BLOC-1 COMPLEX","COMPOSITION OF THE BLOC-1 COMPLEX"]},{"referenceNumber":27,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-11","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":28,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-316 AND SER-321","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AY265460","properties":[{"key":"ProteinId","value":"AAP91870.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF394226","properties":[{"key":"ProteinId","value":"AAL46636.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL136637","properties":[{"key":"ProteinId","value":"CAB66572.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK054593","properties":[{"key":"ProteinId","value":"BAB70770.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK290718","properties":[{"key":"ProteinId","value":"BAF83407.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL021978","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL022343","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC011912","properties":[{"key":"ProteinId","value":"AAH11912.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF061734","properties":[{"key":"ProteinId","value":"AAG43145.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS4534.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q96EV8-1"},{"database":"CCDS","id":"CCDS4535.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q96EV8-2"},{"database":"RefSeq","id":"NP_001258596.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001271667.2"}],"isoformId":"Q96EV8-3"},{"database":"RefSeq","id":"NP_001258597.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001271668.2"}]},{"database":"RefSeq","id":"NP_001258598.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001271669.2"}]},{"database":"RefSeq","id":"NP_115498.2","properties":[{"key":"NucleotideSequenceId","value":"NM_032122.5"}],"isoformId":"Q96EV8-1"},{"database":"RefSeq","id":"NP_898861.1","properties":[{"key":"NucleotideSequenceId","value":"NM_183040.2"}],"isoformId":"Q96EV8-2"},{"database":"AlphaFoldDB","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"123857","properties":[{"key":"Interactions","value":"168"}]},{"database":"ComplexPortal","id":"CPX-1910","properties":[{"key":"EntryName","value":"BLOC-1 complex"}]},{"database":"CORUM","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q96EV8","properties":[{"key":"Number of interactors","value":"251"}]},{"database":"IntAct","id":"Q96EV8","properties":[{"key":"Interactions","value":"145"}]},{"database":"MINT","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-DTNBP1","properties":[{"key":"Evidences","value":"1 NDEx IQuery Curated Pathway"}]},{"database":"STRING","id":"9606.ENSP00000341680","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q96EV8","properties":[{"key":"glycosylation","value":"2 sites, 1 O-linked glycan (2 sites)"}]},{"database":"iPTMnet","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"DTNBP1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"38604971","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000341680","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"76455","properties":[{"key":"Description","value":"-"}],"isoformId":"Q96EV8-1"},{"database":"ProteomicsDB","id":"76456","properties":[{"key":"Description","value":"-"}],"isoformId":"Q96EV8-2"},{"database":"Pumba","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"25035","properties":[{"key":"antibodies","value":"443 antibodies from 36 providers"}]},{"database":"DNASU","id":"84062","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000338950.9","properties":[{"key":"ProteinId","value":"ENSP00000344718.5"},{"key":"GeneId","value":"ENSG00000047579.21"}],"isoformId":"Q96EV8-2"},{"database":"Ensembl","id":"ENST00000344537.10","properties":[{"key":"ProteinId","value":"ENSP00000341680.6"},{"key":"GeneId","value":"ENSG00000047579.21"}],"isoformId":"Q96EV8-1"},{"database":"GeneID","id":"84062","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:84062","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000344537.10","properties":[{"key":"ProteinId","value":"ENSP00000341680.6"},{"key":"RefSeqNucleotideId","value":"NM_032122.5"},{"key":"RefSeqProteinId","value":"NP_115498.2"}]},{"database":"UCSC","id":"uc003nbm.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q96EV8-1"},{"database":"AGR","id":"HGNC:17328","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA27512","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"84062","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"84062","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"DTNBP1","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"DTNBP1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:17328","properties":[{"key":"GeneName","value":"DTNBP1"}]},{"database":"HPA","id":"ENSG00000047579","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (brain, retina)"}]},{"database":"MalaCards","id":"DTNBP1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"607145","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"614076","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000047579","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"231531","properties":[{"key":"Disease","value":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000047579","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QRS9","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000156479","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"KSWFLLH","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"2445127at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q96EV8","properties":[{"key":"Number of GO annotations","value":"9 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-432722","properties":[{"key":"PathwayName","value":"Golgi Associated Vesicle Biogenesis"}]},{"database":"SignaLink","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000047579","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"84062","properties":[{"key":"hits","value":"11 hits in 1155 CRISPR screens"}]},{"database":"CD-CODE","id":"FB4E32DD","properties":[{"key":"EntryName","value":"Presynaptic clusters and postsynaptic densities"}]},{"database":"ChiTaRS","id":"DTNBP1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"Dysbindin","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"84062","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q96EV8","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q96EV8","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 6"}]},{"database":"RNAct","id":"Q96EV8","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000047579","properties":[{"key":"ExpressionPatterns","value":"Expressed in tendon of biceps brachii and 180 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q96EV8","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0030424","properties":[{"key":"GoTerm","value":"C:axon"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:1904115","properties":[{"key":"GoTerm","value":"C:axon cytoplasm"},{"key":"GoEvidenceType","value":"IEA:GOC"}]},{"database":"GO","id":"GO:0031083","properties":[{"key":"GoTerm","value":"C:BLOC-1 complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15102850"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22203680"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0043197","properties":[{"key":"GoTerm","value":"C:dendritic spine"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005789","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0010008","properties":[{"key":"GoTerm","value":"C:endosome membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0030426","properties":[{"key":"GoTerm","value":"C:growth cone"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0033162","properties":[{"key":"GoTerm","value":"C:melanosome membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0015630","properties":[{"key":"GoTerm","value":"C:microtubule cytoskeleton"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0043005","properties":[{"key":"GoTerm","value":"C:neuron projection"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16980328"}]},{"database":"GO","id":"GO:0043025","properties":[{"key":"GoTerm","value":"C:neuronal cell body"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005886","properties":[{"key":"GoTerm","value":"C:plasma membrane"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0014069","properties":[{"key":"GoTerm","value":"C:postsynaptic density"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16980328"}]},{"database":"GO","id":"GO:0045211","properties":[{"key":"GoTerm","value":"C:postsynaptic membrane"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0042383","properties":[{"key":"GoTerm","value":"C:sarcolemma"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0030672","properties":[{"key":"GoTerm","value":"C:synaptic vesicle membrane"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16980328"}]},{"database":"GO","id":"GO:0030036","properties":[{"key":"GoTerm","value":"P:actin cytoskeleton organization"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0008089","properties":[{"key":"GoTerm","value":"P:anterograde axonal transport"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0048490","properties":[{"key":"GoTerm","value":"P:anterograde synaptic vesicle transport"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0032438","properties":[{"key":"GoTerm","value":"P:melanosome organization"},{"key":"GoEvidenceType","value":"NAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22203680"}]},{"database":"GO","id":"GO:0061002","properties":[{"key":"GoTerm","value":"P:negative regulation of dendritic spine morphogenesis"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0031175","properties":[{"key":"GoTerm","value":"P:neuron projection development"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16980328"}]},{"database":"GO","id":"GO:0048812","properties":[{"key":"GoTerm","value":"P:neuron projection morphogenesis"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0060155","properties":[{"key":"GoTerm","value":"P:platelet dense granule organization"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0010628","properties":[{"key":"GoTerm","value":"P:positive regulation of gene expression"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0061646","properties":[{"key":"GoTerm","value":"P:positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0001956","properties":[{"key":"GoTerm","value":"P:positive regulation of neurotransmitter secretion"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0002092","properties":[{"key":"GoTerm","value":"P:positive regulation of receptor internalization"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0060159","properties":[{"key":"GoTerm","value":"P:regulation of dopamine receptor signaling pathway"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0014059","properties":[{"key":"GoTerm","value":"P:regulation of dopamine secretion"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0009966","properties":[{"key":"GoTerm","value":"P:regulation of signal transduction"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:2000300","properties":[{"key":"GoTerm","value":"P:regulation of synaptic vesicle exocytosis"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0060041","properties":[{"key":"GoTerm","value":"P:retina development in camera-type eye"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"InterPro","id":"IPR007531","properties":[{"key":"EntryName","value":"Dysbindin"}]},{"database":"PANTHER","id":"PTHR16294:SF5","properties":[{"key":"EntryName","value":"DYSBINDIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR16294","properties":[{"key":"EntryName","value":"DYSTROBREVIN BINDING PROTEIN 1 DYSBINDIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF04440","properties":[{"key":"EntryName","value":"Dysbindin"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS","length":351,"molWeight":39493,"crc64":"0504C86E12B66C08","md5":"84C8FAF3531FD7EA86C198722E9DF5F7"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":26,"SUBCELLULAR LOCATION":3,"ALTERNATIVE PRODUCTS":3,"TISSUE SPECIFICITY":1,"PTM":2,"DISEASE":2,"MISCELLANEOUS":2,"SIMILARITY":1,"SEQUENCE CAUTION":1},"countByFeatureType":{"Chain":1,"Region":2,"Coiled coil":1,"Motif":1,"Compositional bias":1,"Modified residue":4,"Alternative sequence":2,"Natural variant":2,"Mutagenesis":2,"Sequence conflict":1},"uniParcId":"UPI000006F968"}}