MPC1 - mitochondrial pyruvate carrier 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51660

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
31145700 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial pyruvate transmembrane transport IDA
IDA: Inferred from direct assay
26253029 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
26253029 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

MPC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MPC1 Q9Y5U8 MPC2 Homo sapiens O95563 32296183
Intra
MPC1 Q9Y5U8 MPC2 Homo sapiens O95563 33961781
Intra
MPC1 Q9Y5U8 MPC2 Homo sapiens O95563 32296183
Intra
MPC1 Q9Y5U8 MPC2 Homo sapiens O95563 31145700
Cross: Cross-species interaction Intra: Intraspecies interaction

MPC1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811072 BRP44L Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

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
Others MPC1 NCBI