KIF5A

KIF5A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases KIF5A, D12S1889, MY050, NKHC, SPG10, kinesin family member 5A
External IDs MGI: 109564 HomoloGene: 55861 GeneCards: KIF5A
Genetically Related Diseases
rheumatoid arthritis[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

3798

16572

Ensembl

ENSG00000155980

ENSMUSG00000074657

UniProt

Q12840

P33175

RefSeq (mRNA)

NM_004984

NM_001039000
NM_008447

RefSeq (protein)

NP_004975.2

NP_001034089.1
NP_032473.2

Location (UCSC) Chr 12: 57.55 – 57.59 Mb Chr 10: 127.23 – 127.26 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.[4][5][6]

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.[6]

Interactions

KIF5A has been shown to interact with KLC1.[7][8]

See also

References

  1. "Diseases that are genetically associated with KIF5A view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. Hamlin PJ, Jones PF, Leek JP, Bransfield K, Lench NJ, Aldersley MA, Howdle PD, Markham AF, Robinson PA (Feb 1999). "Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk". Cytogenet Cell Genet. 82 (3–4): 267–8. doi:10.1159/000015115. PMID 9858832.
  5. Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (Oct 1999). "A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity". Am J Hum Genet. 65 (3): 757–63. doi:10.1086/302555. PMC 1377983Freely accessible. PMID 10441583.
  6. 1 2 "Entrez Gene: KIF5A kinesin family member 5A".
  7. Rahman, A; Friedman D S; Goldstein L S (Jun 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". J. Biol. Chem. 273 (25): 15395–403. doi:10.1074/jbc.273.25.15395. ISSN 0021-9258. PMID 9624122.
  8. Rahman, A; Kamal A; Roberts E A; Goldstein L S (Sep 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". J. Cell Biol. 146 (6): 1277–88. doi:10.1083/jcb.146.6.1277. ISSN 0021-9525. PMC 2156125Freely accessible. PMID 10491391.

Further reading


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