MYO5B

MYO5B
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	4J5M、4LNZ、4LWZ、4LX0
識別號
别名	MYO5B；, myosin VB, MVID1, DIAR2, PFIC10
外部ID	OMIM：606540 MGI：106598 HomoloGene：49481 GeneCards：MYO5B
相關疾病
	微絨毛萎縮症
基因位置（人类）
染色体	18號染色體
终止	50,195,147 bp
基因位置（小鼠）
染色体	小鼠18号染色体
终止	74,904,564 bp
RNA表达模式
	查阅更多表达数据
基因本體
分子功能	• 核苷酸結合; • calmodulin binding; • microfilament motor activity; • 血浆蛋白结合; • actin binding; • cytoskeletal motor activity; • ATP結合; • actin filament binding;
細胞組分	• 細胞質; • recycling endosome; • apical cortex; • 外排體; • cytoplasmic vesicle membrane; • myosin complex; • 大分子复合体;
生物學過程	• renal water homeostasis; • protein transport; • vesicle-mediated transport; • transport; • endosomal transport;
	Sources:Amigo / QuickGO
直系同源
	4645
	17919
	ENSG00000167306
	ENSMUSG00000025885
	Q9ULV0
	P21271
	NM_001080467
	NM_008661; NM_201600
	NP_001073936
	无数据
	維基數據
檢視/編輯人類	檢視/編輯小鼠

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

^ 與MYO5B相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000167306 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000025885 - 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.
^ 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.
^ 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.
^ Entrez Gene: MYO5B myosin VB. [2021-05-03]. （原始内容存档于2010-12-05）.
^ ^9.0 ^9.1 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.
^ 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.

这是一篇與生物化學相關的小作品。您可以通过编辑或修订扩充其内容。

[1] 與MYO5B相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000167306 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 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.

[pmid8884266-6] 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.

[pmid17462998-7] 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.

[entrez-8] Entrez Gene: MYO5B myosin VB. [2021-05-03]. （原始内容存档于2010-12-05）.

[mueller-9] 9.0 ^9.1 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.

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