MYO5B

MYO5B是一个位于人类18号染色体上的基因，编码一种隶属肌凝蛋白超家族的非典型的肌凝蛋白肌凝蛋白-Vb（Myosin-Ia）^[6][7][8][9]。

MYO5B
已知的结构 PDB 直系同源搜索: PDBe RCSB PDBID列表 4J5M、​4LNZ、​4LWZ、​4LX0
识别号
别名	MYO5B；, myosin VB, MVID1, DIAR2, PFIC10
外部ID	OMIM：606540 MGI：106598 HomoloGene：49481 GeneCards：MYO5B
相关疾病
微绒毛萎缩症[1]
基因位置（人类） 染色体 18号染色体[2] 基因座 18q21.1 起始 49,822,789 bp[2] 终止 50,195,147 bp[2]
基因位置（小鼠） 染色体 小鼠18号染色体[3] 基因座 18 E2|18 50.7 cM 起始 74,574,007 bp[3] 终止 74,904,564 bp[3]
RNA表达模式
查阅更多表达数据
基因本体 分子功能 • 核苷酸结合 • calmodulin binding • microfilament motor activity • 血浆蛋白结合 • actin binding • cytoskeletal motor activity • ATP结合 • actin filament binding 细胞组分 • 细胞质 • recycling endosome • apical cortex • 外排体 • cytoplasmic vesicle membrane • myosin complex • 大分子复合体 生物学过程 • renal water homeostasis • protein transport • vesicle-mediated transport • transport • endosomal transport Sources:Amigo / QuickGO
直系同源
物种	人类	小鼠
Entrez	4645	17919
Ensembl	ENSG00000167306	ENSMUSG00000025885
UniProt	Q9ULV0	P21271
mRNA​序列	NM_001080467	NM_008661 ​NM_201600
蛋白序列	NP_001073936	无数据
基因位置​（UCSC）	Chr 18: 49.82 – 50.2 Mb	Chr 18: 74.57 – 74.9 Mb
PubMed​查找	[4]	[5]
维基数据
查看/编辑人类 查看/编辑小鼠

MYO5B基因的突变会导致细胞极性的异常，进而造成微绒毛包涵体病（英语：microvillous inclusion disease）^[9]。此外，也有证据表明MYO5B基因与躁郁症有关^[10]。

参见

• 肌凝蛋白

参考资料

1. 與MYO5B相關的疾病；在維基數據上查看/編輯參考.
2. GRCh38: Ensembl release 89: ENSG00000167306 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000025885 - Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. 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. Mapping of unconventional myosins in mouse and human. Genomics. Sep 1996, 36 (3): 431–9. PMID 8884266. doi:10.1006/geno.1996.0488.
7. 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. 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. Aug 2007, 282 (32): 23725–36. PMID 17462998. doi:10.1074/jbc.M608531200.
8. Entrez Gene: MYO5B myosin VB. [2021-05-03]. （原始内容存档于2010-12-05）.
9. 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. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature Genetics. Oct 2008, 40 (10): 1163–5. PMID 18724368. doi:10.1038/ng.225.
10. 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. Whole-genome association study of bipolar disorder. Molecular Psychiatry. Jun 2008, 13 (6): 558–69. PMC 3777816 . PMID 18317468. doi:10.1038/sj.mp.4002151.