Homo sapiens Protein: KIF1A | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-84914.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | KIF1A | ||||||||||||||||||
Protein Name | kinesin family member 1A | ||||||||||||||||||
Synonyms | ATSV; C2orf20; HSN2C; MRD9; SPG30; UNC104; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000322791 | ||||||||||||||||||
InnateDB Gene | IDBG-84910 (KIF1A) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Motor for anterograde axonal transport of synaptic vesicle precursors. {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton {ECO:0000269PubMed:21376300}. Note=Expressed in distal regions of neurites. | ||||||||||||||||||
Disease Associations | Spastic paraplegia 30, autosomal recessive (SPG30) [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. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. {ECO:0000269PubMed:21487076}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:21820098}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in neurons. {ECO:0000269PubMed:21376300}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000008
C2 domain IPR000253 Forkhead-associated (FHA) domain IPR001752 Kinesin, motor domain IPR001849 Pleckstrin homology domain IPR008984 SMAD/FHA domain IPR022140 Kinesin protein 1B IPR022164 Kinesin-like IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00168
PF00498 PF00225 PF00169 PF12423 PF12473 |
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PRINTS |
PR00360
PR00380 |
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PIRSF | |||||||||||||||||||
SMART |
SM00239
SM00240 SM00129 SM00233 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q12756 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q12756 | ||||||||||||||||||
TrEMBL | G1UI30 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 547 | ||||||||||||||||||
UniGene | Hs.732510 | ||||||||||||||||||
RefSeq | NP_004312 | ||||||||||||||||||
HUGO | HGNC:888 | ||||||||||||||||||
OMIM | 601255 | ||||||||||||||||||
CCDS | CCDS46561 | ||||||||||||||||||
HPRD | 03156 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB209138 AB210029 AB290172 AB621817 AC011298 AC112784 AF004425 AF038173 BC064906 BC111780 BC111799 BX537556 L79946 U37194 X90840 | ||||||||||||||||||
GenPept | AAA80352 AAB04640 AAB97363 AAD02917 AAH64906 AAI11781 AAI11800 AAX93239 BAD92375 BAE06111 BAG06726 BAK64153 CAA62346 CAH56161 | ||||||||||||||||||