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MGP001754

UniProt Annotations

Entry Information
Gene Namekinesin family member 5C
Protein EntryKIF5C_HUMAN
UniProt IDO60282
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60282-1; Sequence=Displayed; Name=2; IsoId=O60282-2; Sequence=VSP_035715, VSP_035716;
DiseaseCortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. {ECO:0000269|PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainComposed of three structural domains: a large globular N- terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
FunctionMediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. {ECO:0000250}.
InteractionP68400:CSNK2A1; NbExp=4; IntAct=EBI-717170, EBI-347804; P19784:CSNK2A2; NbExp=4; IntAct=EBI-717170, EBI-347451; Q8IXI2:RHOT1; NbExp=2; IntAct=EBI-717170, EBI-1396430;
Sequence CautionSequence=BAA25457.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily. {ECO:0000255|PROSITE-ProRule:PRU00283}.
SimilarityContains 1 kinesin motor domain. {ECO:0000255|PROSITE- ProRule:PRU00283}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000305}.
SubunitOligomer composed of two heavy chains and two light chains. Interacts with GRIP1 and KLC3 (By similarity). Interacts with TRAK1. {ECO:0000250, ECO:0000269|PubMed:15644324}.
Tissue SpecificityHighest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.
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