KIF1B

KIF1B
Identifiers
Aliases	KIF1B, CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1, kinesin family member 1B
External IDs	OMIM: 605995; MGI: 108426; HomoloGene: 99835; GeneCards: KIF1B; OMA:KIF1B - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EH0
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 5.6.1.3 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.22 Start 10,210,570 bp End 10,381,603 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 E2|4 79.05 cM Start 149,260,776 bp End 149,392,150 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis biceps brachii internal globus pallidus Brodmann area 46 Skeletal muscle tissue of biceps brachii middle temporal gyrus ventricular zone pars reticulata Region I of hippocampus proper pars compacta Top expressed in retinal pigment epithelium neural layer of retina pontine nuclei dorsal tegmental nucleus ventral tegmental area habenula globus pallidus subiculum deep cerebellar nuclei dorsomedial hypothalamic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function microtubule motor activity nucleotide binding microtubule binding ATPase activity protein binding kinesin binding ATP binding kinase binding scaffold protein binding plus-end-directed microtubule motor activity Cellular component cytoplasm kinesin complex microtubule associated complex mitochondrion neuron projection microtubule cytoskeleton cytoplasmic vesicle membrane cytoplasmic vesicle axon cytoplasm membrane axon dendrite Biological process cytoskeleton-dependent intracellular transport neuron-neuron synaptic transmission anterograde axonal transport microtubule-based movement neuromuscular synaptic transmission mitochondrion transport along microtubule apoptotic process positive regulation of gene expression transport along microtubule lysosome localization response to rotenone cellular response to nerve growth factor stimulus protein localization to cell periphery anterograde neuronal dense core vesicle transport retrograde neuronal dense core vesicle transport vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23095 16561 Ensembl ENSG00000054523 ENSMUSG00000063077 UniProt O60333 Q60575 RefSeq (mRNA) NM_183416 NM_015074 NM_001365951 NM_001365952 NM_001365953 NM_001290995 NM_008441 NM_207682 RefSeq (protein) NP_055889 NP_904325 NP_001352880 NP_001352881 NP_001352882 NP_001277924 NP_032467 NP_997565 Location (UCSC) Chr 1: 10.21 – 10.38 Mb Chr 4: 149.26 – 149.39 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Kinesin-like protein KIF1B is a protein that in humans is encoded by the KIF1B gene.

Clinical significance

It is associated with Charcot–Marie–Tooth disease, type 2A1.

Interactions

KIF1B has been shown to interact with GIPC1.

Further reading

• Nangaku M, Sato-Yoshitake R, Okada Y, et al. (1995). "KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria". Cell. 79 (7): 1209–20. doi:10.1016/0092-8674(94)90012-4. PMID 7528108. S2CID 38430180.
• Gong TL, Burmeister M, Lomax MI (1997). "The novel gene D4Mil1e maps to mouse chromosome 4 and human chromosome 1p36". Mamm. Genome. 7 (10): 790–1. doi:10.1007/s003359900237. PMID 8854876. S2CID 40174732.
• Saito M, Hayashi Y, Suzuki T, et al. (1998). "Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A". Neurology. 49 (6): 1630–5. doi:10.1212/wnl.49.6.1630. PMID 9409358. S2CID 32002103.
• Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
• Bunn RC, Jensen MA, Reed BC (1999). "Protein Interactions with the Glucose Transporter Binding Protein GLUT1CBP That Provide a Link between GLUT1 and the Cytoskeleton". Mol. Biol. Cell. 10 (4): 819–32. doi:10.1091/mbc.10.4.819. PMC 25204. PMID 10198040.
• Conforti L, Buckmaster EA, Tarlton A, et al. (1999). "The major brain isoform of kif1b lacks the putative mitochondria-binding domain". Mamm. Genome. 10 (6): 617–22. doi:10.1007/s003359901056. PMID 10341097. S2CID 24223913.
• Nagase T, Kikuno R, Ishikawa K, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.
• Yang HW, Chen YZ, Takita J, et al. (2001). "Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2". Oncogene. 20 (36): 5075–83. doi:10.1038/sj.onc.1204456. PMID 11526494. S2CID 20404213.
• Mok H, Shin H, Kim S, et al. (2002). "Association of the kinesin superfamily motor protein KIF1Balpha with postsynaptic density-95 (PSD-95), synapse-associated protein-97, and synaptic scaffolding molecule PSD-95/discs large/zona occludens-1 proteins". J. Neurosci. 22 (13): 5253–8. doi:10.1523/JNEUROSCI.22-13-05253.2002. PMC 6758229. PMID 12097473.
• Nakamura N, Miyake Y, Matsushita M, et al. (2003). "KIF1Bbeta2, capable of interacting with CHP, is localized to synaptic vesicles". J. Biochem. 132 (3): 483–91. doi:10.1093/oxfordjournals.jbchem.a003246. PMID 12204119.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Huang YS, Carson JH, Barbarese E, Richter JD (2003). "Facilitation of dendritic mRNA transport by CPEB". Genes Dev. 17 (5): 638–53. doi:10.1101/gad.1053003. PMC 196011. PMID 12629046.
• Chen YY, Takita J, Chen YZ, et al. (2004). "Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma". Int. J. Oncol. 23 (3): 737–44. doi:10.3892/ijo.23.3.737. PMID 12888911.
• Rodriguez M, Yu X, Chen J, Songyang Z (2004). "Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains". J. Biol. Chem. 278 (52): 52914–8. doi:10.1074/jbc.C300407200. PMID 14578343.
• Nagaraja GM, Kandpal RP (2004). "Chromosome 13q12 encoded Rho GTPase activating protein suppresses growth of breast carcinoma cells, and yeast two-hybrid screen shows its interaction with several proteins". Biochem. Biophys. Res. Commun. 313 (3): 654–65. doi:10.1016/j.bbrc.2003.12.001. PMID 14697242.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2