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Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5Agene.[1][2][3]
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.[3]
↑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. PMID9858832.
↑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. ISSN0021-9258. PMID9624122.
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. doi:10.1212/01.wnl.0000138731.60693.d2. PMID15452312.
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. doi:10.1016/0896-6273(94)90314-X. PMID7514426.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID8889548.
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. doi:10.1074/jbc.273.25.15395. PMID9624122.
Kanai Y, Okada Y, Tanaka Y, et al. (2000). "KIF5C, a novel neuronal kinesin enriched in motor neurons". J. Neurosci. 20 (17): 6374–84. PMID10964943.
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. PMID11986669.
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. PMID14600269.
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. PMID16169070.
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. PMID16489470.