KIF1B Knowpia

KIF1B
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2EH0
Identifiers
Aliases	KIF1B, CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1, kinesin family member 1B
External IDs	OMIM: 605995 MGI: 108426 HomoloGene: 99835 GeneCards: KIF1B
Gene location (Human)
Chr.	Chromosome 1 (human)
End	10,381,603 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	149,392,150 bp
RNA expression pattern
	Top expressed in
	biceps brachii; ; internal globus pallidus; ; Brodmann area 46; ; middle temporal gyrus; ; Region I of hippocampus proper; ; pons; ; external globus pallidus; ; postcentral gyrus; ; body of tongue; ; orbitofrontal cortex;
	Top expressed in
	retinal pigment epithelium; ; pontine nuclei; ; dorsal tegmental nucleus; ; ventral tegmental area; ; habenula; ; globus pallidus; ; subiculum; ; dorsomedial hypothalamic nucleus; ; medial dorsal nucleus; ; anterior horn of spinal cord;
	More reference expression data
	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
	23095
	16561
	ENSG00000054523
	ENSMUSG00000063077
	O60333
	Q60575
	NM_183416; NM_015074; NM_001365951; NM_001365952; NM_001365953
	NM_001290995; NM_008441; NM_207682
	NP_055889; NP_904325; NP_001352880; NP_001352881; NP_001352882
	NP_001277924; NP_032467; NP_997565
	Wikidata
View/Edit Human	View/Edit Mouse

Kinesin-like protein KIF1B is a protein that in humans is encoded by the KIF1B gene.^[5]^[6]^[7]

Clinical significance edit

It is associated with Charcot–Marie–Tooth disease, type 2A1.^[7]

Interactions edit

KIF1B has been shown to interact with GIPC1.^[8]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000054523 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000063077 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (June 2001). "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta". Cell. 105 (5): 587–97. doi:10.1016/S0092-8674(01)00363-4. PMID 11389829. S2CID 17303998.
^ Nagai M, Ichimiya S, Ozaki T, Seki N, Mihara M, Furuta S, Ohira M, Tomioka N, Nomura N, Sakiyama S, Kubo O, Takakura K, Hori T, Nakagawara A (May 2000). "Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2". Int J Oncol. 16 (5): 907–16. doi:10.3892/ijo.16.5.907. PMID 10762626.
^ ^a ^b "Entrez Gene: KIF1B kinesin family member 1B".
^ Bunn RC, Jensen M A, Reed B C (April 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. ISSN 1059-1524. PMC 25204. PMID 10198040.

Further reading edit

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 edit

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000054523 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000063077 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11389829-5] Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (June 2001). "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta". Cell. 105 (5): 587–97. doi:10.1016/S0092-8674(01)00363-4. PMID 11389829. S2CID 17303998.

[pmid10762626-6] Nagai M, Ichimiya S, Ozaki T, Seki N, Mihara M, Furuta S, Ohira M, Tomioka N, Nomura N, Sakiyama S, Kubo O, Takakura K, Hori T, Nakagawara A (May 2000). "Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2". Int J Oncol. 16 (5): 907–16. doi:10.3892/ijo.16.5.907. PMID 10762626.

[entrez-7] "Entrez Gene: KIF1B kinesin family member 1B".

[pmid10198040-8] Bunn RC, Jensen M A, Reed B C (April 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. ISSN 1059-1524. PMC 25204. PMID 10198040.

[5]

[6]

[7]

[1]

[2]

[3]

[4]

[8]

Summary

Clinical significance edit

Interactions edit

References edit

Further reading edit

External links edit