KIF1A

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Kinesin family member 1A
PDB 1i6i EBI.jpg
PDB rendering based on 1i6i.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols KIF1A ; ATSV; C2orf20; HSN2C; MRD9; SPG30; UNC104
External IDs OMIM601255 MGI108391 HomoloGene99729 GeneCards: KIF1A Gene
Orthologs
Species Human Mouse
Entrez 547 16560
Ensembl ENSG00000130294 ENSMUSG00000014602
UniProt Q12756 E9Q9G6
RefSeq (mRNA) NM_001244008 NM_001110315
RefSeq (protein) NP_001230937 NP_001103785
Location (UCSC) Chr 2:
241.65 – 241.76 Mb
Chr 1:
93.02 – 93.1 Mb
PubMed search [1] [2]

Kinesin-like protein KIF1A, also known as axonal transporter of synaptic vesicles or microtubule-based motor KIF1A, is a protein that in humans is encoded by the KIF1A gene.[1][2][3]

Function[edit]

KIF1A is a member of the kinesin family. This protein is highly similar to mouse heavy-chain kinesin member 1A protein, which is an anterograde motor protein that transports membranous organelles along axonal microtubules. It is thought that this protein may play a critical role in the development of axonal neuropathies resulting from impaired axonal transport. There are multiple polyadenylation sites found in this gene.[1]

Clinical significance[edit]

KIF1A is associated with hereditary spastic paraparesis.[4]

References[edit]

  1. ^ a b "Entrez Gene: kinesin family member 1A". 
  2. ^ Okada Y, Yamazaki H, Sekine-Aizawa Y, Hirokawa N (June 1995). "The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors". Cell 81 (5): 769–80. doi:10.1016/0092-8674(95)90538-3. PMID 7539720. 
  3. ^ Keller MP, Seifried BA, Rabin BA, Chance PF (March 1999). "Mapping of the kinesin-related gene ATSV to chromosome 2q37". Hum. Genet. 104 (3): 254–6. doi:10.1007/s004390050944. PMID 10323250. 
  4. ^ Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O (April 2011). "Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis". Genome Res 21 (5): 658–64. doi:10.1101/gr.117143.110. PMID 21487076. 


Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.