1. Gene
  2. MPC1 - mitochondrial pyruvate carrier 1 Gene

MPC1 - mitochondrial pyruvate carrier 1 Gene

中文名称:线粒体丙酮酸载体 1

种属: Homo sapiens

同用名: MPYCD; BRP44L; CGI-129; SLC54A1

基因 ID: 51660 | 基因类型: protein coding

关于 MPC1

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:166,364,919-166,382,940 (from NCBI)

This gene has 7 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 92.1), kidney (RPKM 35.4) and 23 other tissues.

功能概要

该基因编码的蛋白质是 MPC1/MPC2 异二聚体的一部分,负责将丙酮酸转运至线粒体。编码的蛋白质存在于线粒体内膜中。该基因的缺陷是线粒体丙酮酸载体缺陷的原因。已发现该基因的几种转录变体,一些蛋白质编码和一种非蛋白质编码。[RefSeq 提供,2012 年 8 月]

The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

MPC1 基因产物(7)

mRNA Protein Name
NM_001270879.2 NP_001257808.1 mitochondrial pyruvate carrier 1 isoform 2
NM_001376565.1 NP_001363494.1 mitochondrial pyruvate carrier 1 isoform 2
NM_001376566.1 NP_001363495.1 mitochondrial pyruvate carrier 1 isoform 2
NM_001376567.1 NP_001363496.1 mitochondrial pyruvate carrier 1 isoform 2
NM_001376568.1 NP_001363497.1 mitochondrial pyruvate carrier 1 isoform 2
NM_001376569.1 NP_001363498.1 mitochondrial pyruvate carrier 1 isoform 3
NM_016098.4 NP_057182.1 mitochondrial pyruvate carrier 1 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
31145700 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial pyruvate transmembrane transport IDA
IDA: 通过直接分析推断
26253029 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
26253029 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

MPC1 蛋白结构

MPC

MPC: Uncharacterised protein family (UPF0041) (14 - 106)

  • 0
  • 100
  • 109 a.a.
蛋白主名 其他名称

mitochondrial pyruvate carrier 1

HSPC040 protein

MPC1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra MPC1 Q9Y5U8 MPC2 Homo sapiens O95563
Y2H Array
32296183
Intra MPC1 Q9Y5U8 MPC2 Homo sapiens O95563
Anti Tag CoIP
33961781
Intra MPC1 Q9Y5U8 MPC2 Homo sapiens O95563
Y2H Prey Pooling
32296183
Intra MPC1 Q9Y5U8 MPC2 Homo sapiens O95563
Anti Tag CoIP
31145700
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Mitochondrial Pyruvate Carrier Deficiency

MPYCD

Metabolic Acidosis
Extramedullary Plasmacytoma

Extraosseous Plasmacytoma

Plasmacytoma, Extramedullary

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 MPC1 VGNC VGNC:102465
Macaca mulatta MPC1 VGNC VGNC:74803
Mus musculus MPC1 MGD MGI:1915240
Bos taurus MPC1 VGNC VGNC:31569
Rattus norvegicus MPC1 RGD RGD:620902