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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31145700	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial pyruvate transmembrane transport	IDA IDA: Inferred from direct assay	26253029	GOA

Cellular Component GO Annotation	Evidence	Reference	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

0
100
109 a.a.

Protein Preferred Names

Protein Names

mitochondrial pyruvate carrier 1

HSPC040 protein

MPC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138559	GW604714X	Inhibitor	98.99%	Unkown
HY-RS08606	MPC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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