Entity Details

Primary name KIF1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12756
EntryNameKIF1A_HUMAN
FullNameKinesin-like protein KIF1A
TaxID9606
Evidenceevidence at protein level
Length1690
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesKIF1A

GO terms

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GOName
GO:0003774 cytoskeletal motor activity
GO:0003777 microtubule motor activity
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0007018 microtubule-based movement
GO:0008017 microtubule binding
GO:0008021 synaptic vesicle
GO:0008089 anterograde axonal transport
GO:0008574 plus-end-directed microtubule motor activity
GO:0016192 vesicle-mediated transport
GO:0016887 ATP hydrolysis activity
GO:0022027 interkinetic nuclear migration
GO:0030424 axon
GO:0030425 dendrite
GO:0030705 cytoskeleton-dependent intracellular transport
GO:0042802 identical protein binding
GO:0043025 neuronal cell body
GO:0060998 regulation of dendritic spine development
GO:0061001 regulation of dendritic spine morphogenesis
GO:0098674 extrinsic component of neuronal dense core vesicle membrane
GO:0098794 postsynapse
GO:0098840 protein transport along microtubule
GO:0098992 neuronal dense core vesicle
GO:0099519 dense core granule cytoskeletal transport
GO:1904115 axon cytoplasm
GO:1990048 anterograde neuronal dense core vesicle transport
GO:1990049 retrograde neuronal dense core vesicle transport

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm
Cytoplasmic vesicle

Domains

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DomainNameCategoryType
IPR000253 Forkhead-associated (FHA) domainDomainDomain
IPR001752 Kinesin motor domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR008984 SMAD/FHA domain superfamilyFamilyHomologous superfamily
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR019821 Kinesin motor domain, conserved siteSiteConserved site
IPR022140 Kinesin-like KIF1-typeDomainDomain
IPR022164 Kinesin-likeDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR027640 Kinesin-like proteinFamilyFamily
IPR032405 Kinesin-associatedDomainDomain
IPR036961 Kinesin motor domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614213 OMIMNeuropathy, hereditary sensory, 2C (HSN2C)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. The disease is caused by variants affecting the gene represented in this entry.
614255 OMIMNESCAV syndrome (NESCAVS)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. The disease is caused by variants affecting the gene represented in this entry.
610357 OMIMSpastic paraplegia 30 (SPG30)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 SPG30 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. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB03909 Adenosine-5'-[Beta, Gamma-Methylene]TriphosphateDrugbanksmall molecule
DB04395 Phosphoaminophosphonic Acid-Adenylate EsterDrugbanksmall molecule

Interactions

37 interactions

InteractorPartnerSourcesPublicationsLink
KIF1A_HUMANKIF1A_HUMANDIP, HPRD, MINT15014437 22863567 details
KIF1A_HUMANSP1_HUMANBioGRID, IntAct20195357 details
KIF1A_HUMANTRIP6_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANTRI27_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANTRAF1_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANTNS2_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANSPY2_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANRNF31_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANRGS20_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANRFX6_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANRBPMS_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANPSA3_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANPLS1_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANNT2NA_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANMTUS2_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANMKRN3_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANTRIM1_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANMDFI_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANFXR2_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANATL4_HUMANBioGRID, IntAct24722188 details
KIF1A_HUMANKIF1B_HUMANBioGRID, IntAct28514442 32814053 details
KIF1A_HUMANRETR1_HUMANDIP26040720 details
KIF1A_HUMANESR1_HUMANBioGRID, HPRD, IntAct15604093 31527615 details
KIF1A_HUMANCATD_HUMANIntAct32814053 details
KIF1A_HUMANGRN_HUMANIntAct32814053 details
KIF1A_HUMANTTHY_HUMANIntAct32814053 details
KIF1A_HUMANWFS1_HUMANIntAct32814053 details
KIF1A_HUMANSPRE1_HUMANIntAct32814053 details
KIF1A_HUMANMED1_HUMANBioGRID15604093 details
KIF1A_HUMANPPARG_HUMANBioGRID, HPRD15604093 details
KIF1A_HUMANRXRA_HUMANBioGRID, HPRD15604093 details
KIF1A_HUMANANDR_HUMANBioGRID, HPRD15604093 24722188 details
KIF1A_HUMANRIMB1_HUMANBioGRID24722188 details
KIF1A_HUMANNT2NC_HUMANBioGRID24722188 details
KIF1A_HUMANDISC1_HUMANIntAct31413325 details
KIF1A_HUMANTNIK_HUMANIntAct31413325 details
KIF1A_HUMANGIT1_HUMANHPRD12522103 details