{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q7Z7G8","secondaryAccessions":["C9JD30","Q709C6","Q709C7","Q7Z7G4","Q7Z7G5","Q7Z7G6","Q7Z7G7","Q8NB77","Q9NWV1","Q9Y4E7"],"uniProtkbId":"VP13B_HUMAN","entryAudit":{"firstPublicDate":"2004-02-16","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2010-10-05","entryVersion":170,"sequenceVersion":2},"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":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Intermembrane lipid transfer protein VPS13B"}},"alternativeNames":[{"fullName":{"value":"Cohen syndrome protein 1"}},{"fullName":{"value":"Vacuolar protein sorting-associated protein 13B"}}]},"genes":[{"geneName":{"value":"VPS13B"},"synonyms":[{"value":"CHS1"},{"value":"COH1"},{"value":"KIAA0532"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q07878"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q80TY5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24334764"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26358774"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30962439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32375900"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32560273"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"25492866"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"32560273"}],"value":"Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:24334764, PubMed:30962439, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173). Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273). May also play a role during adipose tissue development (PubMed:26358774). Required for maintenance of the ocular lens (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q80TY5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25492866"}],"value":"Interacts with STX6 (By similarity). Interacts with STX12 (By similarity). Interacts with RAB6A isoform 1 (GTP-bound) and isoform 2 (GTP-bound) (PubMed:25492866). Interacts with RAB6B (GTP-bound) (PubMed:25492866)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q80TY5"}],"value":"Localizes to proacrosomal and acrosomal vesicles and not the Golgi apparatus during acrosome formation"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q80TY5"}],"value":"Recycling endosome membrane","id":"SL-0231"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q80TY5"}],"value":"Cytoplasmic vesicle, secretory vesicle, acrosome membrane","id":"SL-0006"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25492866"}],"value":"Golgi apparatus, cis-Golgi network membrane","id":"SL-0068"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"}],"value":"Endoplasmic reticulum-Golgi intermediate compartment membrane","id":"SL-0099"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"}],"value":"Golgi apparatus, trans-Golgi network membrane","id":"SL-0267"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21865173"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25492866"}],"value":"Early endosome membrane","id":"SL-0093"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25492866"}],"value":"Lysosome membrane","id":"SL-0157"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Peripheral membrane protein","id":"SL-9903"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"1A"}],"isoformIds":["Q7Z7G8-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"2A"}],"isoformIds":["Q7Z7G8-2"],"sequenceIds":["VSP_009408"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q7Z7G8-3"],"sequenceIds":["VSP_009409","VSP_009410"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q7Z7G8-4"],"sequenceIds":["VSP_009406","VSP_009407"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q7Z7G8-5"],"sequenceIds":["VSP_009404","VSP_009405"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["Q7Z7G8-6"],"sequenceIds":["VSP_039837"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12730828"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19006247"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33025479"}],"value":"Widely expressed (PubMed:12730828). There is apparent differential expression of different transcripts (PubMed:12730828, PubMed:19006247). In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified (PubMed:12730828). These transcripts are also seen in all adult tissues analyzed (PubMed:12730828). A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult (PubMed:12730828). Expression is very low in adult brain tissue (PubMed:12730828). Expressed in peripheral blood lymphocytes (PubMed:33025479). Isoform 1 and isoform 2 are expressed in brain and retina (PubMed:12730828, PubMed:19006247). Isoform 2 is expressed ubiquitously (PubMed:12730828, PubMed:19006247)"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Cohen syndrome","diseaseAccession":"DI-00314","acronym":"COH1","description":"A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. 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