2. Gene
  3. TPM3 - tropomyosin 3 Gene

TPM3 - tropomyosin 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：原肌球蛋白 3

种属: Homo sapiens

同用名: TM3; TM5; TRK; CFTD; NEM1; TM-5; TM30; CAPM1; TM30nm; TPM3nu; TPMsk3; hscp30; HEL-189; HEL-S-82p; OK/SW-cl.5

基因 ID: 7170 | 基因类型: protein coding

关于 TPM3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,155,308-154,192,100 (from NCBI)

This gene has 27 transcripts (splice variants), 119 orthologues, 3 paralogues and is associated with 83 phenotypes. Ubiquitous expression in bone marrow (RPKM 43.6), appendix (RPKM 31.3) and 25 other tissues.

功能概要

该基因编码肌动蛋白结合蛋白原肌球蛋白家族的成员。原肌球蛋白是卷曲螺旋蛋白的二聚体，可为肌动蛋白丝提供稳定性并调节其他肌动蛋白结合蛋白的进入。该基因的突变会导致常染色体显性线虫肌病和其他肌肉疾病。该基因座参与与其他基因座的易位，包括间变性淋巴瘤受体酪氨酸激酶 (ALK) 和神经营养性酪氨酸激酶受体 1 型 (NTRK1) ，导致形成作为致癌基因的融合蛋白。该基因在不同的染色体上有许多假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 5 月]

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

TPM3 基因产物(15)

mRNA Protein Name
NM_001043351.2 NP_001036816.1 tropomyosin alpha-3 chain isoform Tpm3.2cy
NM_001043352.2 NP_001036817.1 tropomyosin alpha-3 chain isoform Tpm3.7cy
NM_001043353.2 NP_001036818.1 tropomyosin alpha-3 chain isoform Tpm3.4cy
NM_001278188.2 NP_001265117.1 tropomyosin alpha-3 chain isoform 6
NM_001278189.2 NP_001265118.1 tropomyosin alpha-3 chain isoform Tpm3.5cy
NM_001278190.2 NP_001265119.1 tropomyosin alpha-3 chain isoform 8
NM_001278191.2 NP_001265120.1 tropomyosin alpha-3 chain isoform 9
NM_001349679.2 NP_001336608.1 tropomyosin alpha-3 chain isoform Tpm3.3cy
NM_001364679.2 NP_001351608.1 tropomyosin alpha-3 chain isoform 10
NM_001364680.2 NP_001351609.1 tropomyosin alpha-3 chain isoform 11
NM_001364681.2 NP_001351610.1 tropomyosin alpha-3 chain isoform 12
NM_001364682.1 NP_001351611.1 tropomyosin alpha-3 chain isoform 13
NM_001364683.1 NP_001351612.1 tropomyosin alpha-3 chain isoform Tpm3.5cy
NM_152263.4 NP_689476.2 tropomyosin alpha-3 chain isoform Tpm3.12st
NM_153649.4 NP_705935.1 tropomyosin alpha-3 chain isoform Tpm3.1cy
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 protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in stress fiber IDA
IDA: 通过直接分析推断
16236705 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

TPM3 蛋白结构

Tropomyosin

Tropomyosin: Tropomyosin (49 - 284)

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

tropomyosin alpha-3 chain

alpha-tropomyosin, slow skeletal

重组 TPM3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71083 TPM3 Protein, Human P06753-2 (M1-M248) ≥95%

关联疾病

疾病名称 别名
Nemaline Myopathy 1

Cap Myopathy 1

NEM1

Nemaline Myopathy 1, Autosomal Dominant Or Recessive

Nemaline Myopathy, Type 1

CAPM1

Cap Disease

Cap Myopathy Tpm3-Related

Nemaline Myopathy 1 Autosomal Dominant Or Recessive

Myopathy, Nemaline, Type 1

Cap Myopathy
Myopathy, Congenital, With Fiber-Type Disproportion

CFTD

Fiber-Type Disproportion Myopathy, Congenital

Cftdm

Myopathy, Congenital, With Fiber-Type Disproportion 1

Congenital Fiber-Type Disproportion Myopathy

Myopathy, Congenital, With Fiber Type Disproportion
Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion
Cap Myopathy

Cap Disease

Congenital Myopathy With Caps
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome
Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma
Intermediate Congenital Nemaline Myopathy

Intermediate Nemaline Myopathy

Intermediate Congenital Nm
Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset
Myopathy

Muscular Diseases

Myopathies
Lipofibromatosis-Like Neural Tumor
Congenital Fibrosarcoma

Infantile Fibrosarcoma
Childhood Fibrosarcoma

Pediatric Fibrosarcoma
Epithelioid Inflammatory Myofibroblastic Sarcoma
Congenital Structural Myopathy
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome
Congenital Mesoblastic Nephroma

Mesoblastic Nephroma

Nephroma, Mesoblastic
Spitzoid Melanoma

Atypical Spitz Nevus
Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor

Mesenchymal Tumor

Mesenchymal Tumors
Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis
Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary

Granuloma, Plasma Cell, Pulmonary

Lymphocytic Pseudotumor Of Lung

Sclerosing Hemangiocytoma Of Lung
Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma
Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2
Hypotonia
Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy
Mammary Analogue Secretory Carcinoma
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
Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]
Kidney Cortex Disease
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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

相关产品

Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-137465 CG428 Degrader / 否
HY-131244 ALK-IN-9 Inhibitor / 否
HY-RS14938 TPM3 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-124689 TR-100 / 否
HY-157542 CG428-NEG / 否
HY-164514 NMS-P626 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris TPM3 VGNC VGNC:47743
Rattus norvegicus TPM3 RGD RGD:621546
Mus musculus TPM3 MGD MGI:1890149
Bos taurus TPM3 VGNC VGNC:36253
Felis catus TPM3 VGNC VGNC:107956
Macaca mulatta TPM3 VGNC VGNC:78635
Others TPM3 NCBI
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