1. Gene
  2. TMOD1 - tropomodulin 1 Gene

TMOD1 - tropomodulin 1 Gene

中文名称:调蛋白 1

种属: Homo sapiens

同用名: TMOD; ETMOD; D9S57E

基因 ID: 7111 | 基因类型: protein coding

关于 TMOD1

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:97,501,180-97,601,743 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues and 6 paralogues. Broad expression in heart (RPKM 48.5), adrenal (RPKM 34.3) and 23 other tissues.

功能概要

该基因编码 tropomodulin 家族的一个成员。编码的蛋白是一种肌动蛋白加帽蛋白,通过与其 N-末端结合来调节原肌球蛋白,抑制肌动蛋白丝尖端的解聚和伸长,从而影响红细胞膜骨架的结构。已发现该基因编码相同蛋白质的多个转录变体。[RefSeq 提供,2009 年 10 月]

This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

TMOD1 基因产物(2)

mRNA Protein Name
NM_001166116.2 NP_001159588.1 tropomodulin-1
NM_003275.4 NP_003266.1 tropomodulin-1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin binding IDA
IDA: 通过直接分析推断
26370058 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of COP9 signalosome IDA
IDA: 通过直接分析推断
18850735 GOA
located in actin filament IDA
IDA: 通过直接分析推断
26370058 GOA
located in myofibril IDA
IDA: 通过直接分析推断
26370058 GOA
located in sarcomere IDA
IDA: 通过直接分析推断
26370058 GOA
located in striated muscle thin filament IDA
IDA: 通过直接分析推断
25250574 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

TMOD1 蛋白结构

Tropomodulin

Tropomodulin: Tropomodulin (2 - 144)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
蛋白主名 其他名称

tropomodulin-1

E-Tmod

关联疾病

疾病名称 别名
Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy

XECD

Endothelial Corneal Dystrophy, X-Linked

Congenital Structural Myopathy
Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Mus musculus TMOD1 MGD MGI:98775
Bos taurus TMOD1 VGNC VGNC:36135
Rattus norvegicus TMOD1 RGD RGD:3874
Macaca mulatta TMOD1 VGNC VGNC:78570
Felis catus TMOD1 VGNC VGNC:66378
Canis familiaris TMOD1 VGNC VGNC:47623