KIF1A

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.[5][6][7]

KIF1A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKIF1A, ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104, kinesin family member 1A
External IDsOMIM: 601255 MGI: 108391 HomoloGene: 99729 GeneCards: KIF1A
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q37.3Start240,713,761 bp[1]
End240,821,036 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

547

16560

Ensembl

ENSG00000130294

ENSMUSG00000014602

UniProt

Q12756

P33173

RefSeq (mRNA)

NM_001244008
NM_004321
NM_001320705
NM_001330289
NM_001330290

NM_001110315
NM_001294149
NM_001294150
NM_008440
NM_001368847

RefSeq (protein)

NP_001230937
NP_001307634
NP_001317218
NP_001317219
NP_004312

n/a

Location (UCSC)Chr 2: 240.71 – 240.82 MbChr 1: 93.02 – 93.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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 transport neuropathies resulting from impaired axonal transport. There are multiple polyadenylation sites found in this gene.[5] Sexual orientation has been linked to the regulatory domain of the gene.[8]

Clinical significance

KIF1A is associated with hereditary spastic paraparesis.[9]

The website KIF1A.org serves as a resource for patients and care-givers, and provides links to research efforts.

References

  1. GRCh38: Ensembl release 89: ENSG00000130294 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000014602 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: kinesin family member 1A".
  6. 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. S2CID 16772001.
  7. 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. S2CID 10375316.
  8. Ngun, Tuck (October 8, 2015). "PgmNr 95: A novel predictive model of sexual orientation using epigenetic markers". American Society of Human Genetics.
  9. 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.
  • Overview of all the structural information available in the PDB for UniProt: Q12756 (Kinesin-like protein KIF1A) at the PDBe-KB.


Further reading

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


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