1. Gene
  2. MTPN - myotrophin Gene

MTPN - myotrophin Gene

中文名称:肌营养蛋白

种属: Homo sapiens

同用名: V-1; GCDP

基因 ID: 136319 | 基因类型: protein coding

关于 MTPN

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:135,926,760-135,977,359 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 74.6), esophagus (RPKM 68.4) and 24 other tissues.

功能概要

该基因产生的转录物是双顺反子,可以编码肌营养蛋白和亮氨酸拉链蛋白 6。肌营养蛋白与心脏肥大相关,参与 NFkappa B p50-p65 异二聚体向 p50-p50 和 p65 的转化-p65 同型二聚体。这种蛋白质在小脑形态发生中也具有潜在功能,它可能参与小脑神经元的分化,尤其是颗粒细胞的分化。该转录物 3' 端的隐蔽 ORF 使用新的内部核糖体进入位点和非 AUG 翻译起始密码子来产生亮氨酸拉链蛋白 6,这是一种与骨髓增生性疾病相关的 6.4 kDa 肿瘤抗原。[RefSeq 提供,2008 年 7 月]

The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]

MTPN 基因产物(1)

mRNA Protein Name
NM_145808.4 NP_665807.1 myotrophin
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cardiac muscle hypertrophy IMP
IMP: 通过突变表型推断
10329199 GOA
involved in regulation of barbed-end actin filament capping IDA
IDA: 通过直接分析推断
16895918 GOA
involved in regulation of cell size IDA
IDA: 通过直接分析推断
10329199 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of F-actin capping protein complex IDA
IDA: 通过直接分析推断
16895918 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

MTPN 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (7 - 97)

  • 0
  • 100
  • 118 a.a.
蛋白主名 其他名称

myotrophin

granule cell differentiation protein

关联疾病

疾病名称 别名
Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Lujo Hemorrhagic Fever

Zambian Hemorrhagic Fever

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
Bos taurus MTPN VGNC VGNC:50020
Felis catus MTPN VGNC VGNC:63658
Macaca mulatta MTPN VGNC VGNC:74962
Rattus norvegicus MTPN RGD RGD:619806
Canis familiaris MTPN VGNC VGNC:51815
Mus musculus MTPN MGD MGI:99445