1. Gene
  2. TPM4 - tropomyosin 4 Gene

TPM4 - tropomyosin 4 Gene

中文名称:原肌球蛋白 4

种属: Homo sapiens

同用名: HEL-S-108

基因 ID: 7171 | 基因类型: protein coding

关于 TPM4

Cytogenetic location: 19p13.12-p13.11 Genomic coordinates (GRCh38): 19:16,067,538-16,103,002 (from NCBI)

This gene has 35 transcripts (splice variants), 258 orthologues, 3 paralogues and is associated with 54 phenotypes. Ubiquitous expression in gall bladder (RPKM 102.4), urinary bladder (RPKM 100.5) and 25 other tissues.

功能概要

该基因编码肌动蛋白结合蛋白的原肌球蛋白家族成员,参与横纹肌和平滑肌的收缩系统以及非肌肉细胞的细胞骨架。原肌球蛋白是卷曲螺旋蛋白的二聚体,在大多数肌动蛋白丝中沿着大沟端对端聚合。它们为细丝提供稳定性并调节其他肌动蛋白结合蛋白的进入。在肌肉细胞中,它们通过控制肌球蛋白头与肌动蛋白丝的结合来调节肌肉收缩。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 11 月]

This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the Cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of Myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

TPM4 基因产物(5)

mRNA Protein Name
NM_001145160.2 NP_001138632.1 tropomyosin alpha-4 chain isoform Tpm4.1cy
NM_001367836.1 NP_001354765.1 tropomyosin alpha-4 chain isoform 3
NM_001367837.2 NP_001354766.1 tropomyosin alpha-4 chain isoform 4
NM_001367838.1 NP_001354767.1 tropomyosin alpha-4 chain isoform 5
NM_003290.3 NP_003281.1 tropomyosin alpha-4 chain isoform Tpm4.2cy

TPM4 蛋白结构

Tropomyosin

Tropomyosin: Tropomyosin (12 - 247)

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

tropomyosin alpha-4 chain

TM30p1

重组 TPM4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76111 TPM4 Protein, Human (HEK293, His) P67936 (A2-I248) ≥95%

关联疾病

疾病名称 别名
Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Autosomal Dominant Macrothrombocytopenia
Epithelioid Inflammatory Myofibroblastic Sarcoma
Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis

Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor

Mesenchymal Tumor

Mesenchymal Tumors

Pseudosarcomatous Fibromatosis

Nodular Fasciitis

Pseudosarcomatous Fasciitis

Fasciitis - Nodular

Fasciitis Nodular

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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
Felis catus TPM4 VGNC VGNC:66478
Rattus norvegicus TPM4 RGD RGD:3899
Canis familiaris TPM4 VGNC VGNC:47744
Bos taurus TPM4 VGNC VGNC:36254
Mus musculus TPM4 MGD MGI:2449202
Others TPM4 NCBI