KIF5A

From Wikipedia, the free encyclopedia

Kinesin family member 5A

PDB rendering based on 2kin.

Available structures: 2kin, 3kin

Identifiers

Symbol(s)

KIF5A; D12S1889; MY050; NKHC; SPG10

External IDs

OMIM: 602821 MGI: 109564 HomoloGene: 55861

Gene ontology
Molecular Function:	• nucleotide binding • microtubule motor activity • protein binding • ATP binding
Cellular Component:	• membrane fraction • cytoplasm • kinesin complex • microtubule • ciliary rootlet • neuron projection
Biological Process:	• microtubule-based movement • synaptic transmission

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004984 (mRNA)
NP_004975 (protein)

XM_989649 (mRNA)
XP_994743 (protein)

Location

Chr 12: 56.23 - 56.27 Mb

Chr 10: 126.63 - 126.84 Mb

Pubmed search

[1]

[2]

Kinesin family member 5A, also known as KIF5A, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: KIF5A kinesin family member 5A.

[edit] Further reading

Fichera M, Lo Giudice M, Falco M, et al. (2005). "Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.". Neurology 63 (6): 1108–10. PMID 15452312.
Niclas J, Navone F, Hom-Booher N, Vale RD (1994). "Cloning and localization of a conventional kinesin motor expressed exclusively in neurons.". Neuron 12 (5): 1059–72. PMID 7514426.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Rahman A, Friedman DS, Goldstein LS (1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins.". J. Biol. Chem. 273 (25): 15395–403. PMID 9624122.
Hamlin PJ, Jones PF, Leek JP, et al. (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. PMID 9858832.
Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (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. PMID 10441583.
Rahman A, Kamal A, Roberts EA, Goldstein LS (1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants.". J. Cell Biol. 146 (6): 1277–88. PMID 10491391.
Kanai Y, Okada Y, Tanaka Y, et al. (2000). "KIF5C, a novel neuronal kinesin enriched in motor neurons.". J. Neurosci. 20 (17): 6374–84. PMID 10964943.
Setou M, Seog DH, Tanaka Y, et al. (2002). "Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites.". Nature 417 (6884): 83–7. doi:10.1038/nature743. PMID 11986669.
Reid E, Kloos M, Ashley-Koch A, et al. (2003). "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).". Am. J. Hum. Genet. 71 (5): 1189–94. PMID 12355402.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Macioce P, Gambara G, Bernassola M, et al. (2004). "Beta-dystrobrevin interacts directly with kinesin heavy chain in brain.". J. Cell. Sci. 116 (Pt 23): 4847–56. doi:10.1242/jcs.00805. PMID 14600269.
Amit I, Yakir L, Katz M, et al. (2004). "Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding.". Genes Dev. 18 (14): 1737–52. doi:10.1101/gad.294904. PMID 15256501.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
Blair MA, Ma S, Hedera P (2007). "Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.". Neurogenetics 7 (1): 47–50. doi:10.1007/s10048-005-0027-8. PMID 16489470.