1. Gene
  2. MTCH1 - mitochondrial carrier 1 Gene

MTCH1 - mitochondrial carrier 1 Gene

中文名称:线粒体载体 1

种属: Homo sapiens

同用名: PSAP; PIG60; CGI-64; SLC25A49

基因 ID: 23787 | 基因类型: protein coding

关于 MTCH1

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:36,968,135-36,986,551 (from NCBI)

This gene has 42 transcripts (splice variants), 187 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 127.6), brain (RPKM 84.7) and 25 other tissues.

功能概要

该基因编码线粒体载体家族的一个成员。编码的蛋白质定位于线粒体内膜,并独立于促凋亡蛋白 BaxBak 诱导细胞凋亡。已经鉴定出该基因在 6 号和 11 号染色体上的假基因。已经观察到编码多种同种型的可变剪接转录物变体。[RefSeq 提供,2012 年 10 月]

This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces Apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]

MTCH1 基因产物(4)

mRNA Protein Name
NM_001271641.2 NP_001258570.1 mitochondrial carrier homolog 1 isoform PSAP-LL
NM_001410897.1 NP_001397826.1 mitochondrial carrier homolog 1 isoform 3
NM_001410899.1 NP_001397828.1 mitochondrial carrier homolog 1 isoform 4
NM_014341.2 NP_055156.1 mitochondrial carrier homolog 1 isoform PSAP-LS
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 membrane insertase activity IDA
IDA: 通过直接分析推断
36264797 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10551805 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: 通过突变表型推断
12377771 GOA
involved in positive regulation of apoptotic process IEP
IEP: 通过表达模式推断
12377771 GOA
involved in protein insertion into mitochondrial outer membrane IDA
IDA: 通过直接分析推断
36264797 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IMP
IMP: 通过突变表型推断
12377771 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

MTCH1 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (206 - 265)

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

mitochondrial carrier homolog 1

cell proliferation-inducing protein 60

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

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 MTCH1 VGNC VGNC:55920
Rattus norvegicus MTCH1 RGD RGD:1309262
Mus musculus MTCH1 MGD MGI:1929261
Macaca mulatta MTCH1 VGNC VGNC:74788
Canis familiaris MTCH1 VGNC VGNC:43459
Felis catus MTCH1 VGNC VGNC:63641