Homo sapiens Protein: KIF1B | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-88894.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | KIF1B | ||||||||||||||||||||||
Protein Name | kinesin family member 1B | ||||||||||||||||||||||
Synonyms | CMT2; CMT2A; CMT2A1; HMSNII; KLP; NBLST1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000263934 | ||||||||||||||||||||||
InnateDB Gene | IDBG-88892 (KIF1B) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. {ECO:0000269PubMed:18334619}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Mitochondrion {ECO:0000269PubMed:16225668}. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons. {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease 2A1 (CMT2A1) [MIM:118210]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:11389829}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuroblastoma 1 (NBLST1) [MIM:256700]: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Pheochromocytoma (PCC) [MIM:171300]: A catecholamine- producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269PubMed:18334619}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas. {ECO:0000269PubMed:10762626, ECO:0000269PubMed:11526494, ECO:0000269PubMed:12888911}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000253
Forkhead-associated (FHA) domain IPR001752 Kinesin, motor domain IPR001849 Pleckstrin homology domain IPR008984 SMAD/FHA domain IPR022140 Kinesin protein 1B IPR022164 Kinesin-like IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00498
PF00225 PF00169 PF12423 PF12473 |
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PRINTS |
PR00380
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PIRSF | |||||||||||||||||||||||
SMART |
SM00240
SM00129 SM00233 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O60333 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O60333 | ||||||||||||||||||||||
TrEMBL | B4DMF3 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 23095 | ||||||||||||||||||||||
UniGene | Hs.734073 | ||||||||||||||||||||||
RefSeq | NP_055889 | ||||||||||||||||||||||
HUGO | HGNC:16636 | ||||||||||||||||||||||
OMIM | 605995 | ||||||||||||||||||||||
CCDS | CCDS111 | ||||||||||||||||||||||
HPRD | 05818 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB011163 AB017133 AB040881 AB088210 AF257176 AK022977 AK297439 AL139424 AL358013 AX039604 AY043362 AY139835 BC001415 BC115395 BT007174 CH471130 | ||||||||||||||||||||||
GenPept | AAH01415 AAI15396 AAK49332 AAK85155 AAN17742 AAP35838 BAA25517 BAA95972 BAB14341 BAB69038 BAE02543 BAG59865 CAC16629 CAI95219 CAI95220 CAI95221 CAI95222 CAI95752 CAI95753 CAI95754 EAW71642 EAW71643 | ||||||||||||||||||||||