1. Gene
  2. MYO9B - myosin IXB Gene

MYO9B - myosin IXB Gene

中文名称:肌球蛋白 IXB

种属: Homo sapiens

同用名: MYR5; CELIAC4

基因 ID: 4650 | 基因类型: protein coding

关于 MYO9B

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,075,777-17,215,255 (from NCBI)

This gene has 20 transcripts (splice variants), 282 orthologues, 43 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 30.6), bone marrow (RPKM 21.4) and 24 other tissues.

功能概要

该基因编码基于肌动蛋白的分子马达重链蛋白的肌球蛋白家族成员。该蛋白质代表一种非常规的肌球蛋白;它不应与传统的非肌肉肌球蛋白 9 (MYH9) 混淆。该蛋白质有四个 IQ 基序,位于结合钙调蛋白的颈部区域,钙调蛋白用作轻链。蛋白质复合物具有单头结构,并在肌动蛋白丝上向负端显示进行性运动。该蛋白质还具有 rho-GTP 酶活性。该基因的多态性与乳糜泻和溃疡性结肠炎的易感性有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the Myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind Calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

MYO9B 基因产物(2)

mRNA Protein Name
NM_001130065.2 NP_001123537.1 unconventional myosin-IXb isoform 2
NM_004145.4 NP_004136.2 unconventional myosin-IXb isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ADP binding IDA
IDA: 通过直接分析推断
16338935 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
16338935 GOA
enables GTPase activator activity IDA
IDA: 通过直接分析推断
9490638 GOA
enables Roundabout binding IPI
IPI: 通过物理相互作用推断
26529257 GOA
enables actin binding IDA
IDA: 通过直接分析推断
9490638 GOA
enables calmodulin binding IDA
IDA: 通过直接分析推断
9490638 GOA
enables microfilament motor activity IDA
IDA: 通过直接分析推断
9490638 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15644318 GOA
NOT enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11901422 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
26529257 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in ARF protein signal transduction IDA
IDA: 通过直接分析推断
15644318 GOA
involved in Roundabout signaling pathway IDA
IDA: 通过直接分析推断
26529257 GOA
involved in actin filament-based movement IDA
IDA: 通过直接分析推断
9490638 GOA
involved in regulation of Rho protein signal transduction IMP
IMP: 通过突变表型推断
26529257 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin filament IDA
IDA: 通过直接分析推断
8907710 GOA
located in cell cortex IDA
IDA: 通过直接分析推断
8907710 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
8907710 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
8907710 GOA
is active in postsynaptic actin cytoskeleton IDA
IDA: 通过直接分析推断
30123108 GOA
is active in postsynaptic actin cytoskeleton IMP
IMP: 通过突变表型推断
30123108 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MYO9B 蛋白结构

RA

RA: Ras association (RalGDS/AF-6) domain (17 - 113)

Myosin_head

Myosin_head: Myosin head (motor domain) (149 - 941)

IQ

IQ: IQ calmodulin-binding motif (958 - 976)

IQ

IQ: IQ calmodulin-binding motif (981 - 999)

IQ

IQ: IQ calmodulin-binding motif (1002 - 1022)

IQ

IQ: IQ calmodulin-binding motif (1026 - 1044)

RhoGAP

RhoGAP: RhoGAP domain (1713 - 1860)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2157 a.a.
蛋白主名 其他名称

unconventional myosin-IXb

myosin-IXb

关联疾病

疾病名称 别名
Celiac Disease 4

Celiac Disease, Susceptibility To, 4

CELIAC4

Gluten-Sensitive Enteropathy 4

Gluten-Sensitive Enteropathy, Susceptibility To, 4

Celiac Disease, Susceptibility To, Type 4

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Dermatitis Herpetiformis

Duhring'S Disease

Duhring-Brocq Disease

Dermatosis Herpetiformis

Brocq-Duhring Disease

Dh

Duhring Brocq Disease

Dh - [Dermatitis Herpetiformis]

Ulcerative Colitis

Colitis Gravis

Left Sided Ulcerative Colitis

Left-Sided Ulcerative Colitis

Idiopathic Proctocolitis

Inflammatory Bowel Disease, Ulcerative Colitis Type

Uc

Colitis Ulcerative

Colitis, Ulcerative

Chronic Left-Sided Ulcerative Colitis

Uc - [Ulcerative Colitis]

Chronic Ulcerative Enteritis

Mucosal Proctocolitis

Ulcerative Mucosal Proctocolitis

Left Hemicolitis

Inflammatory Bowel Disease 6

IBD6

Colitis
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Jejunoileitis
Inflammatory Bowel Disease 5

IBD5

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MYO9B RGD RGD:3146
Canis familiaris MYO9B VGNC VGNC:43575
Felis catus MYO9B VGNC VGNC:68402
Bos taurus MYO9B VGNC VGNC:31832
Mus musculus MYO9B MGD MGI:106624