KIF1A

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KIF1A
PDB 1i6i EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KIF1A, ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104, kinesin family member 1A
External IDs MGI: 108391 HomoloGene: 99729 GeneCards: 547
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001244008
NM_004321
NM_001320705

NM_001110315
NM_001294149
NM_001294150
NM_008440

RefSeq (protein)

NP_001230937.1
NP_004312.2

n/a

Location (UCSC) Chr 2: 240.71 – 240.82 Mb Chr 1: 93.02 – 93.1 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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] Sexual orientation has been linked to the regulatory domain of the gene.[4]

Clinical significance[edit]

KIF1A is associated with hereditary spastic paraparesis.[5]

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. ^ Ngun, Tuck (October 8, 2015). "PgmNr 95: A novel predictive model of sexual orientation using epigenetic markers.". American Society of Human Genetics. 
  5. ^ 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. PMC 3083082. PMID 21487076. 

Further reading[edit]

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