KIF5A

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Kinesin family member 5A is a protein that in humans is encoded by the KIF5A gene. It is part of the kinesin family of motor proteins.[5][6][7]

PDBOrtholog search: PDBe RCSB
AliasesKIF5A, D12S1889, MY050, NKHC, SPG10, kinesin family member 5A, NEIMY, ALS25
Quick facts Available structures, PDB ...
KIF5A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKIF5A, D12S1889, MY050, NKHC, SPG10, kinesin family member 5A, NEIMY, ALS25
External IDsOMIM: 602821; MGI: 109564; HomoloGene: 55861; GeneCards: KIF5A; OMA:KIF5A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004984
NM_001354705
NM_032624

NM_001039000
NM_008447

RefSeq (protein)

NP_004975
NP_001341634

NP_001034089
NP_032473

Location (UCSC)Chr 12: 57.55 – 57.59 MbChr 10: 127.06 – 127.1 Mb
PubMed search[3][4]
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This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multi-subunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.[7]

Interactions

KIF5A has been shown to interact with KLC1.[8][9]

Clinical significance

Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type 10 (SPG1).[10]

Mutations in KIF5A have also been found to cause amyotrophic lateral sclerosis.[11]

KIF5A has been shown to play a role in Alzheimer's disease by modulating the toxic effect of beta-amyloid on axonal transport of mitochondria.[12]

References

Further reading

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