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

MPC1 - mitochondrial pyruvate carrier 1 Gene

Homo sapiens

Also known as MPYCD; BRP44L; CGI-129; SLC54A1

Gene ID: 51660 | Gene type: protein coding

About 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.

Summary

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 Products(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

MPC1 Protein Structure

MPC

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

  • 0
  • 100
  • 109 a.a.
Protein Preferred Names Protein Names

mitochondrial pyruvate carrier 1

HSPC040 protein

Related Diseases

Diseases Alias
Mitochondrial Pyruvate Carrier Deficiency

MPYCD

Metabolic Acidosis
Extramedullary Plasmacytoma

Extraosseous Plasmacytoma

Plasmacytoma, Extramedullary

Diseases Alias
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

Orthologs Information

Species Symbol Source 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