Kinesin Family, Member 5A (KIF5A)

NKHC; MY050; SPG10; Spastic Paraplegia 10(Autosomal Dominant); Kinesin heavy chain neuron-specific 1; Neuronal kinesin heavy chain

SPN	R291
HGNC	6323
MGI	109564
PubMed	23217743
RGD	1303035
UniProt	Q12840
Wiki	KIF5A

The predicted 1,032-amino acid protein has the characteristic features of a KHC, as well as a unique C-terminal stretch of 69 amino acids. The amino acid sequence of NKHC is 65% and 54% identical to the amino acid sequences of KNS1 and the Drosophila KHC. Northern blot analysis of rat tissues detected Nkhc expression only in brain, where multiple transcripts were found. Immunoblot analysis of rat tissue extracts using antibodies specific for NKHC detected a doublet of approximately 120 and 133 kD only in brain and sciatic nerve tissue. By indirect immunofluorescence, the authors showed that NKHC is distributed throughout the central nervous system but is highly enriched in subsets of neurons. Within cultured hippocampal neurons, NKHC is concentrated in the cell body, particularly in the perinuclear region.

Reference

"Cloning and localization of a conventional kinesin motor expressed exclusively in neurons."
Neuron 12:1059-1072(1994) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)."
Am. J. Hum. Genet. 71:1189-1194(2002) [PubMed] [Europe PMC] [Abstract]

"Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia."
Neurology 63:1108-1110(2004) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia."
Arch. Neurol. 63:284-287(2006) [PubMed] [Europe PMC] [Abstract]

"Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia."
Neurogenetics 7:47-50(2006) [PubMed] [Europe PMC] [Abstract]

"Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity."
Hum. Mol. Genet. 17:1245-1252(2008) [PubMed] [Europe PMC] [Abstract]

"SPG10 is a rare cause of spastic paraplegia in European families."
J. Neurol. Neurosurg. Psych. 79:584-587(2008) [PubMed] [Europe PMC] [Abstract]

"Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10."
Hum. Mutat. 30:E376-E385(2009) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy."
Neurol. Sci. 32:665-668(2011) [PubMed] [Europe PMC] [Abstract]