Misplaced Pages

MYO5B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4J5M, 4LNZ, 4LWZ, 4LX0
Identifiers
Aliases	MYO5B, myosin VB, MVID1, DIAR2, PFIC10
External IDs	OMIM: 606540; MGI: 106598; HomoloGene: 49481; GeneCards: MYO5B; OMA:MYO5B - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q21.1 Start 49,822,789 bp End 50,195,147 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 E2|18 50.7 cM Start 74,574,007 bp End 74,904,564 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum jejunal mucosa pancreatic ductal cell rectum mucosa of transverse colon duodenum islet of Langerhans mucosa of sigmoid colon nasal epithelium palpebral conjunctiva Top expressed in primary oocyte dentate gyrus of hippocampal formation granule cell zygote secondary oocyte jejunum ileum epithelium of lens intestinal epithelium epithelium of small intestine transitional epithelium of urinary bladder More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calmodulin binding microfilament motor activity protein binding actin binding cytoskeletal motor activity ATP binding actin filament binding Cellular component cytoplasm recycling endosome apical cortex extracellular exosome cytoplasmic vesicle membrane myosin complex protein-containing complex Biological process renal water homeostasis protein transport vesicle-mediated transport transport endosomal transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4645 17919 Ensembl ENSG00000167306 ENSMUSG00000025885 UniProt Q9ULV0 P21271 RefSeq (mRNA) NM_001080467 NM_008661 NM_201600 RefSeq (protein) NP_001073936 n/a Location (UCSC) Chr 18: 49.82 – 50.2 Mb Chr 18: 74.57 – 74.9 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Myosin-Vb, a myosin V type protein, is encoded by the MYO5B gene in humans.

Recent evidence suggests that Myosin-Vb is related to the creation of memories by actin-dependent trafficking of AMPA receptor containing recycling endosomes in dendritic spines.

Mutations of MYO5B cause microvillus inclusion disease due to defective trafficking of apical and basolateral proteins.

MYO5B has also been associated with bipolar disorder.

Interactions

MYO5B has been shown to interact with RAB11FIP2.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000167306 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025885 – 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.
5. Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA (Sep 1996). "Mapping of unconventional myosins in mouse and human". Genomics. 36 (3): 431–9. doi:10.1006/geno.1996.0488. PMID 8884266.
6. Swiatecka-Urban A, Talebian L, Kanno E, Moreau-Marquis S, Coutermarsh B, Hansen K, Karlson KH, Barnaby R, Cheney RE, Langford GM, Fukuda M, Stanton BA (Aug 2007). "Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells". The Journal of Biological Chemistry. 282 (32): 23725–36. doi:10.1074/jbc.M608531200. PMID 17462998.
7. "Entrez Gene: MYO5B myosin VB".
8. ^ Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR (Oct 2008). "MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity". Nature Genetics. 40 (10): 1163–5. doi:10.1038/ng.225. PMID 18724368. S2CID 205345488.
9. "DukeHealth.org: Scientists Identify Machinery that Helps Make Memories". Retrieved 2014-03-25.
10. Wang Z, Edwards JG, Riley N, Provance DW, Karcher R, Li XD, Davison IG, Ikebe M, Mercer JA, Kauer JA, Ehlers MD (Oct 2008). "Myosin Vb mobilizes recycling endosomes and AMPA receptors for postsynaptic plasticity". Cell. 135 (3): 535–48. doi:10.1016/j.cell.2008.09.057. PMC 2585749. PMID 18984164.
11. Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, Nimgaonkar VL, McQueen MB, Faraone SV, Kirby A, de Bakker PI, Ogdie MN, Thase ME, Sachs GS, Todd-Brown K, Gabriel SB, Sougnez C, Gates C, Blumenstiel B, Defelice M, Ardlie KG, Franklin J, Muir WJ, McGhee KA, MacIntyre DJ, McLean A, VanBeck M, McQuillin A, Bass NJ, Robinson M, Lawrence J, Anjorin A, Curtis D, Scolnick EM, Daly MJ, Blackwood DH, Gurling HM, Purcell SM (Jun 2008). "Whole-genome association study of bipolar disorder". Molecular Psychiatry. 13 (6): 558–69. doi:10.1038/sj.mp.4002151. PMC 3777816. PMID 18317468.
12. Hales CM, Vaerman JP, Goldenring JR (Dec 2002). "Rab11 family interacting protein 2 associates with Myosin Vb and regulates plasma membrane recycling". The Journal of Biological Chemistry. 277 (52): 50415–21. doi:10.1074/jbc.M209270200. PMID 12393859.

Further reading

• Huang WM, Reed-Fourquet L, Wu E, Wu JY (Nov 1990). "Molecular cloning and amino acid sequence of brain L-glutamate decarboxylase". Proceedings of the National Academy of Sciences of the United States of America. 87 (21): 8491–5. Bibcode:1990PNAS...87.8491H. doi:10.1073/pnas.87.21.8491. PMC 54982. PMID 2236059.
• Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS (Jul 1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types". Proceedings of the National Academy of Sciences of the United States of America. 91 (14): 6549–53. Bibcode:1994PNAS...91.6549B. doi:10.1073/pnas.91.14.6549. PMC 44240. PMID 8022818.
• Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O (Oct 1999). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Research. 6 (5): 329–36. doi:10.1093/dnares/6.5.329. PMID 10574461.
• Lapierre LA, Kumar R, Hales CM, Navarre J, Bhartur SG, Burnette JO, Provance DW, Mercer JA, Bähler M, Goldenring JR (Jun 2001). "Myosin vb is associated with plasma membrane recycling systems". Molecular Biology of the Cell. 12 (6): 1843–57. doi:10.1091/mbc.12.6.1843. PMC 37346. PMID 11408590.
• Hales CM, Griner R, Hobdy-Henderson KC, Dorn MC, Hardy D, Kumar R, Navarre J, Chan EK, Lapierre LA, Goldenring JR (Oct 2001). "Identification and characterization of a family of Rab11-interacting proteins". The Journal of Biological Chemistry. 276 (42): 39067–75. doi:10.1074/jbc.M104831200. PMID 11495908.
• Hales CM, Vaerman JP, Goldenring JR (Dec 2002). "Rab11 family interacting protein 2 associates with Myosin Vb and regulates plasma membrane recycling". The Journal of Biological Chemistry. 277 (52): 50415–21. doi:10.1074/jbc.M209270200. PMID 12393859.
• Nakayama M, Kikuno R, Ohara O (Nov 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Fan GH, Lapierre LA, Goldenring JR, Sai J, Richmond A (May 2004). "Rab11-family interacting protein 2 and myosin Vb are required for CXCR2 recycling and receptor-mediated chemotaxis". Molecular Biology of the Cell. 15 (5): 2456–69. doi:10.1091/mbc.E03-09-0706. PMC 404037. PMID 15004234.
• Wakabayashi Y, Dutt P, Lippincott-Schwartz J, Arias IM (Oct 2005). "Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells". Proceedings of the National Academy of Sciences of the United States of America. 102 (42): 15087–92. Bibcode:2005PNAS..10215087W. doi:10.1073/pnas.0503702102. PMC 1257697. PMID 16214890.

External links

• GeneTests/NIH/NCBI/UW information Diarrhea with Microvillus Atrophy 2 DIAR2 Microvillus Inclusion Disease MVID gene testing

This article on a gene on human chromosome 18 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 18
• Human chromosome 18 gene stubs