InnateDB Protein
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IDBP-386379.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KIF5C
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Protein Name
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kinesin family member 5C
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Synonyms
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CDCBM2; KINN; NKHC; NKHC-2; NKHC2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000393379
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InnateDB Gene
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IDBG-71896 (KIF5C)
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Protein Structure
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Function |
Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton {ECO:0000305}.
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Disease Associations |
Cortical 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:0000269PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated |
Total |
14
[view]
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Protein-Protein |
13
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
8 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001752
Kinesin, motor domain
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00225
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PRINTS |
PR00380
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PIRSF |
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SMART |
SM00129
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TIGRFAMs |
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Modification |
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SwissProt |
O60282
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PhosphoSite |
PhosphoSite-O60282
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TrEMBL |
Q9UFW7
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UniProt Splice Variant |
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Entrez Gene |
3800
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UniGene |
Hs.714134
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RefSeq |
NP_004513
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HUGO |
HGNC:6325
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OMIM |
604593
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CCDS |
CCDS74586
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HPRD |
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IMGT |
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EMBL |
AB011103
AC073271
AC105402
AC108512
AC144443
AC144611
AC153810
AF010146
AL117393
BC110287
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GenPept |
AAD01436
AAI10288
AAX82030
AAX82035
AAX82036
AAY24013
BAA25457
CAB55895
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