KIF1A
entrez
547
canonical
uniprot
Q12756
canonical
ensembl
ENSG00000130294
resolver
ensp
ENSP00000322791
resolver
ensp
ENSP00000384231
resolver
ensp
ENSP00000398686
resolver
ensp
ENSP00000438388
resolver
ensp
ENSP00000497030
resolver
ensp
ENSP00000497293
resolver
ensp
ENSP00000497586
resolver
ensp
ENSP00000497678
resolver
ensp
ENSP00000497739
resolver
ensp
ENSP00000497824
resolver
ensp
ENSP00000497935
resolver
ensp
ENSP00000498082
resolver
ensp
ENSP00000498099
resolver
ensp
ENSP00000498196
resolver
ensp
ENSP00000612940
resolver
ensp
ENSP00000612941
resolver
ensp
ENSP00000612942
resolver
ensp
ENSP00000736491
resolver
enst
ENST00000320389
resolver
enst
ENST00000448728
resolver
enst
ENST00000647731
resolver
enst
ENST00000647885
resolver
enst
ENST00000648047
resolver
enst
ENST00000648129
resolver
enst
ENST00000648364
resolver
enst
ENST00000648680
resolver
enst
ENST00000649306
resolver
enst
ENST00000650130
resolver
genesymbol
KIF1A
resolver
genesymbol_syn
ATSV
resolver
genesymbol_syn
C2orf20
resolver
hgnc
HGNC:888
resolver
uniprot
A0A3B3IT28
resolver
uniprot
A0A3B3ITE5
resolver
uniprot
A0A3B3ITF7
resolver
uniprot
A0A3B3ITK3
resolver
uniprot
A0A3B3ITW6
resolver
uniprot
A0A3B3IU40
resolver
uniprot
A0A3B3IUA1
resolver
uniprot
A0A3F2YNW9
resolver
uniprot
B0I1S5
resolver
uniprot
C9JBH1
resolver
uniprot
F5H045
resolver
uniprot
O95068
resolver
uniprot
Q13355
resolver
uniprot
Q14752
resolver
uniprot
Q2NKJ6
resolver
uniprot
Q4LE42
resolver
uniprot
Q53T78
resolver
uniprot
Q59GH1
resolver
uniprot
Q63Z40
resolver
uniprot
Q6P1R9
resolver
uniprot
Q7KZ57
resolver
uniprot_entry
A0A3B3IT28_HUMAN
resolver
uniprot_entry
A0A3B3ITE5_HUMAN
resolver
uniprot_entry
A0A3B3ITF7_HUMAN
resolver
uniprot_entry
A0A3B3ITK3_HUMAN
resolver
uniprot_entry
A0A3B3ITW6_HUMAN
resolver
uniprot_entry
A0A3B3IU40_HUMAN
resolver
uniprot_entry
A0A3B3IUA1_HUMAN
resolver
uniprot_entry
A0A3F2YNW9_HUMAN
resolver
uniprot_entry
C9JBH1_HUMAN
resolver
uniprot_entry
KIF1A_HUMAN
resolver
uniprot_sec
B0I1S5
resolver
uniprot_sec
F5H045
resolver
uniprot_sec
O95068
resolver
uniprot_sec
Q13355
resolver
uniprot_sec
Q14752
resolver
uniprot_sec
Q2NKJ6
resolver
uniprot_sec
Q4LE42
resolver
uniprot_sec
Q53T78
resolver
uniprot_sec
Q59GH1
resolver
uniprot_sec
Q63Z40
resolver
uniprot_sec
Q6P1R9
resolver
uniprot_sec
Q7KZ57
resolver
amino_acid_sequence
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSEKAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLSTLTRPCPGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVVGRIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPYREKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNRVTGVYELSLCHVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLREKLETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSPLEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGVATLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVRRPYAYMYNSDKDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKLSRRRSAQMRV
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 30A, autosomal dominant (SPG30A) [MIM:610357]: 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. {ECO:0000269|PubMed:25585697, ECO:0000269|PubMed:26410750, ECO:0000269|PubMed:28832565, ECO:0000269|PubMed:29159194, ECO:0000269|PubMed:29934652, ECO:0000269|PubMed:31488895, ECO:0000269|PubMed:31796088, ECO:0000269|PubMed:32096284, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 30B, autosomal recessive (SPG30B) [MIM:620607]: 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. {ECO:0000269|PubMed:21487076, ECO:0000269|PubMed:22258533, ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:26125038}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: 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. {ECO:0000269|PubMed:21820098}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: NESCAV syndrome (NESCAVS) [MIM:614255]: 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. {ECO:0000269|PubMed:21376300, ECO:0000269|PubMed:25253658, ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:26125038, ECO:0000269|PubMed:26354034, ECO:0000269|PubMed:26486474, ECO:0000269|PubMed:27034427, ECO:0000269|PubMed:31805580, ECO:0000269|PubMed:32096284, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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. {ECO:0000269|PubMed:28834584, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}.
uniprot
proteins
ec_number
5.6.1.3
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250|UniProtKB:F1M4A4, ECO:0000250|UniProtKB:P33173, ECO:0000269|PubMed:33880452}.
uniprot
proteins
mass_dalton
191064
uniprot
proteins
protein_family
Kinesin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
protein_family
Unc-104 subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21376300
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21487076
uniprot
proteins
pubmed
21820098
uniprot
proteins
pubmed
22258533
uniprot
proteins
pubmed
22863567
uniprot
proteins
pubmed
25253658
uniprot
proteins
pubmed
25265257
uniprot
proteins
pubmed
25585697
uniprot
proteins
pubmed
26125038
uniprot
proteins
pubmed
26354034
uniprot
proteins
pubmed
26410750
uniprot
proteins
pubmed
26486474
uniprot
proteins
pubmed
27034427
uniprot
proteins
pubmed
28832565
uniprot
proteins
pubmed
28834584
uniprot
proteins
pubmed
29159194
uniprot
proteins
pubmed
29934652
uniprot
proteins
pubmed
30021165
uniprot
proteins
pubmed
31488895
uniprot
proteins
pubmed
31796088
uniprot
proteins
pubmed
31805580
uniprot
proteins
pubmed
32096284
uniprot
proteins
pubmed
32652677
uniprot
proteins
pubmed
33880452
uniprot
proteins
pubmed
35132656
uniprot
proteins
pubmed
8661001
uniprot
proteins
sequence_length
1690
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21376300}. Cell projection, neuron projection {ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}. Cell projection, axon {ECO:0000250|UniProtKB:P33173}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P33173}. Synapse {ECO:0000250|UniProtKB:P33173}. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane {ECO:0000250|UniProtKB:F1M4A4}; Peripheral membrane protein {ECO:0000250|UniProtKB:F1M4A4}; Cytoplasmic side {ECO:0000250|UniProtKB:F1M4A4}. Note=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. {ECO:0000250|UniProtKB:P33173, ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:33880452}.
uniprot
proteins