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Mitochondrial pyruvate carrier 1

Protein-coding gene in the species Homo sapiens

MPC1
Identifiers
Aliases	MPC1, BRP44L, MPYCD, dJ68L15.3, CGI-129, mitochondrial pyruvate carrier 1, SLC54A1
External IDs	OMIM: 614738; MGI: 1915240; HomoloGene: 9384; GeneCards: MPC1; OMA:MPC1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q27 Start 166,364,919 bp[1] End 166,383,013 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A1|17 4.92 cM Start 8,501,736 bp[2] End 8,516,493 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle left ventricle right auricle apex of heart C1 segment right lobe of liver muscle of thigh human kidney parotid gland myocardium Top expressed in proximal tubule right kidney quadriceps femoris muscle white adipose tissue muscle of thigh muscle tissue skeletal muscle tissue human kidney cerebellar cortex heart More reference expression data BioGPS n/a
Gene ontology Molecular function pyruvate transmembrane transporter activity molecular function Cellular component integral component of membrane mitochondrial inner membrane membrane mitochondrion integral component of mitochondrial inner membrane cellular component Biological process mitochondrial acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate transmembrane transport cellular response to leukemia inhibitory factor biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51660 55951 Ensembl ENSG00000060762 ENSMUSG00000023861 UniProt Q9Y5U8 P63030 RefSeq (mRNA) NM_001270879 NM_016098 NM_018819 NM_001364918 NM_001364919 RefSeq (protein) NP_001257808 NP_057182 NP_001363494 NP_001363495 NP_001363496 NP_001363497 NP_001363498 NP_061289 NP_001351847 NP_001351848 Location (UCSC) Chr 6: 166.36 – 166.38 Mb Chr 17: 8.5 – 8.52 Mb PubMed search [3] [4]
Wikidata
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Mitochondrial pyruvate carrier 1 (MPC1), also known as brain protein 44-like (BRP44L) and SLC54A1, is a protein that in humans is encoded by the MPC1 gene.^[5] It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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Mitochondrial pyruvate carrier deficiency (MPYCD) is an autosomal recessive disease due to mutations in the MPC1 gene on chromosome 6q27. It is an inborn error of carbohydrate metabolism that blocks aerobic glycolysis by preventing the transport of pyruvate from the cytosol into the mitochondrion for oxidative phosphorylation; however, anaerobic glycolysis is preserved. Common signs and symptoms include poor growth, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), hepatomegaly, lactic acidosis, hypoglycemia, neurological problems, and hypotonia.^[6] A disease with comparable symptoms is also seen in autosomal recessive mutations of the MPC2 gene.^[7]

• Mitochondrial pyruvate carrier 2
• Inborn errors of carbohydrate metabolism

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.