{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q12756","secondaryAccessions":["B0I1S5","F5H045","O95068","Q13355","Q14752","Q2NKJ6","Q4LE42","Q53T78","Q59GH1","Q63Z40","Q6P1R9","Q7KZ57"],"uniProtkbId":"KIF1A_HUMAN","entryAudit":{"firstPublicDate":"1997-11-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2006-12-12","entryVersion":215,"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":{"value":"Kinesin-like protein KIF1A"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"}],"value":"5.6.1.3"}]},"alternativeNames":[{"fullName":{"value":"Axonal transporter of synaptic vesicles"}},{"fullName":{"value":"Microtubule-based motor KIF1A"}},{"fullName":{"value":"Unc-104- and KIF1A-related protein"},"shortNames":[{"value":"hUnc-104"}]}]},"genes":[{"geneName":{"value":"KIF1A"},"synonyms":[{"value":"ATSV"},{"value":"C2orf20"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"F1M4A4"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33880452"}],"value":"Kinesin motor with a plus-end-directed microtubule motor activity (By similarity). It is required for anterograde axonal transport of synaptic vesicle precursors (PubMed:33880452). Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O + a kinesin associated with a microtubule at position (n) = ADP + phosphate a kinesin associated with a microtubule at position (n+1, toward the plus end).","ecNumber":"5.6.1.3","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"F1M4A4"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30021165"}],"value":"Dimeric motor; dimerization is required for ATP-driven processive motility (By similarity). Monomer in vitro (By similarity). Interacts with PPFIA1 and PPFIA4 (By similarity). Interacts with CALM1; the interaction is increased in presence of calcium and increases neuronal dense core vesicles motility (PubMed:30021165). Interacts with PPFIA2 and TANC2; both interactions allow the recruitment of neuronal dense core vesicles to dendritic spines and decrease in presence of calcium (PubMed:30021165). Interacts with SYT4 (unphosphorylated) and SYT11; both interactions increase in presence of calcium (By similarity). Interacts with MADD (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"P07339","geneName":"CTSD","intActId":"EBI-2115097"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"P28799","geneName":"GRN","intActId":"EBI-747754"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"Q12756","geneName":"KIF1A","intActId":"EBI-2679809"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"O60333-2","geneName":"KIF1B","intActId":"EBI-10975473"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"Q7Z699","geneName":"SPRED1","intActId":"EBI-5235340"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"P02766","geneName":"TTR","intActId":"EBI-711909"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q12756","intActId":"EBI-2679809"},"interactantTwo":{"uniProtKBAccession":"O76024","geneName":"WFS1","intActId":"EBI-720609"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25265257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33880452"}],"value":"Within neuronal cells concentrated in the axon, with smaller amounts in the perinuclear and synaptic regions (By similarity). Accumulates at the distal tip of growing neurites"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"}],"value":"Cytoplasm, cytoskeleton","id":"SL-0090"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25265257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32652677"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33880452"}],"value":"Cell projection, neuron projection","id":"SL-0518"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"}],"value":"Cytoplasm, perinuclear region","id":"SL-0198"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P33173"}],"value":"Synapse","id":"SL-0258"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"F1M4A4"}],"value":"Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane","id":"SL-0532"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"F1M4A4"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"F1M4A4"}],"value":"Cytoplasmic side","id":"SL-9910"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q12756-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q12756-2"],"sequenceIds":["VSP_021853","VSP_021854","VSP_021855"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q12756-3"],"sequenceIds":["VSP_021853","VSP_021854"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"}],"value":"Expressed in neurons"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"22863567"}],"value":"Composed of an N-terminal active core containing the motor domain (MD) and a neck coil (NC), a central regulatory center containing the FHA domain and coiled coils (CC1 and CC2) and required for dimerization and activation, and a cargo-recognition region containing a coiled coil (CC3), an undefined region (UDR) and the C-terminal PH domain"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Spastic paraplegia 30A, autosomal dominant","diseaseAccession":"DI-03243","acronym":"SPG30A","description":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30A patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30A is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance is autosomal dominant.","diseaseCrossReference":{"database":"MIM","id":"610357"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25585697"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26410750"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28832565"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29159194"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29934652"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31488895"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31796088"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32096284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32652677"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33880452"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Spastic paraplegia 30B, autosomal recessive","diseaseAccession":"DI-06917","acronym":"SPG30B","description":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30B patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy.","diseaseCrossReference":{"database":"MIM","id":"620607"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21487076"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22258533"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25265257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26125038"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Neuropathy, hereditary sensory, 2C","diseaseAccession":"DI-03263","acronym":"HSN2C","description":"A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.","diseaseCrossReference":{"database":"MIM","id":"614213"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21820098"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"NESCAV syndrome","diseaseAccession":"DI-03252","acronym":"NESCAVS","description":"An autosomal dominant neurodegenerative disorder with variable manifestations. Main features are delayed psychomotor development, progressive spasticity, intellectual disability, speech delay, and learning disabilities. Some patients never achieve ambulation. Additional variable features are cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Disease onset is in infancy or early childhood.","diseaseCrossReference":{"database":"MIM","id":"614255"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21376300"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25253658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25265257"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26125038"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26354034"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26486474"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27034427"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31805580"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32096284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32652677"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33880452"}]},"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":"28834584"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32652677"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33880452"}],"value":"KIF1A dysfunction is associated with a large spectrum of neurologic disorders, including HSN2C, SPG30 and NESCAVS. It has been proposed to collectively name them KIF1A-Associated Neurological Disorder (KAND). Some variants reported here are based on this broad classification"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00283"}],"value":"Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. 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