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MPC1 mitochondrial pyruvate carrier 1 [ Homo sapiens (human) ]

Gene ID: 51660, updated on 30-Jul-2019

Summary

Official Symbol
MPC1provided by HGNC
Official Full Name
mitochondrial pyruvate carrier 1provided by HGNC
Primary source
HGNC:HGNC:21606
See related
Ensembl:ENSG00000060762 MIM:614738
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPYCD; BRP44L; CGI-129; SLC54A1
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]
Expression
Broad expression in heart (RPKM 92.1), kidney (RPKM 35.4) and 23 other tissues See more
Orthologs

Genomic context

See MPC1 in Genome Data Viewer
Location:
6q27
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (166364919..166383013, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (166778407..166796501, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100289495 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 49 Neighboring gene SFT2 domain containing 1 Neighboring gene ribosomal protein S6 kinase A2 Neighboring gene RPS6KA2 intronic transcript 1 Neighboring gene microRNA 1913

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Pyruvate metabolism, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism, organism-specific biosystemPyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanin...
  • Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
pyruvate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
mitochondrial acetyl-CoA biosynthetic process from pyruvate IEA
Inferred from Electronic Annotation
more info
 
mitochondrial pyruvate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial pyruvate carrier 1
Names
HSPC040 protein
brain protein 44-like protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032888.1 RefSeqGene

    Range
    5001..23095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270879.2NP_001257808.1  mitochondrial pyruvate carrier 1 isoform 2

    See identical proteins and their annotated locations for NP_001257808.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This results in a distinct 5' UTR and causes translation initiation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL022069, AL556427, AL561589, BG828174
    Consensus CDS
    CCDS75547.1
    UniProtKB/TrEMBL
    Q5TI65
    Related
    ENSP00000477853.1, ENST00000621685.4
    Conserved Domains (1) summary
    pfam03650
    Location:166
    MPC; Uncharacterized protein family (UPF0041)
  2. NM_016098.4NP_057182.1  mitochondrial pyruvate carrier 1 isoform 1

    See identical proteins and their annotated locations for NP_057182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL556427, BG828174
    Consensus CDS
    CCDS5293.1
    UniProtKB/Swiss-Prot
    Q9Y5U8
    Related
    ENSP00000354223.6, ENST00000360961.11
    Conserved Domains (1) summary
    pfam03650
    Location:24109
    MPC; Uncharacterized protein family (UPF0041)

RNA

  1. NR_073093.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL556427, BF665465, DC402302

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    166364919..166383013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535895.2XP_011534197.1  mitochondrial pyruvate carrier 1 isoform X1

    See identical proteins and their annotated locations for XP_011534197.1

    UniProtKB/TrEMBL
    Q5TI65
    Conserved Domains (1) summary
    pfam03650
    Location:166
    MPC; Uncharacterized protein family (UPF0041)
  2. XM_024446456.1XP_024302224.1  mitochondrial pyruvate carrier 1 isoform X1

    Conserved Domains (1) summary
    pfam03650
    Location:166
    MPC; Uncharacterized protein family (UPF0041)
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