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

    Gene ID: 51660, updated on 13-Jun-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See MPC1 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (166364919..166382940, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (166778407..166796428, 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyruvate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in mitochondrial pyruvate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in integral component of mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      5074..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. Variants 2 and 4-7 all encode the same isoform (2).
      Source sequence(s)
      AL022069, AL556427, AL561589, BG828174
      Consensus CDS
      CCDS75547.1
      UniProtKB/TrEMBL
      Q5TI65
      Related
      ENST00000487218.5
      Conserved Domains (1) summary
      pfam03650
      Location:166
      MPC; Uncharacterized protein family (UPF0041)
    2. NM_001376565.1NP_001363494.1  mitochondrial pyruvate carrier 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 5-7, encodes isoform 2.
      Source sequence(s)
      AL022069
      Conserved Domains (1) summary
      pfam03650
      Location:166
      MPC; Uncharacterized protein family (UPF0041)
    3. NM_001376566.1NP_001363495.1  mitochondrial pyruvate carrier 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2, 4, 6, and 7, encodes isoform 2.
      Source sequence(s)
      AL022069
      Related
      ENSP00000340784.7, ENST00000341756.10
      Conserved Domains (1) summary
      pfam03650
      Location:166
      MPC; Uncharacterized protein family (UPF0041)
    4. NM_001376567.1NP_001363496.1  mitochondrial pyruvate carrier 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2, 4, 5, and 7, encodes isoform 2.
      Source sequence(s)
      AL022069
      Related
      ENSP00000477853.1, ENST00000621685.4
      Conserved Domains (1) summary
      pfam03650
      Location:166
      MPC; Uncharacterized protein family (UPF0041)
    5. NM_001376568.1NP_001363497.1  mitochondrial pyruvate carrier 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 2 and 4-6, encodes isoform 2.
      Source sequence(s)
      AL022069
      Conserved Domains (1) summary
      pfam03650
      Location:166
      MPC; Uncharacterized protein family (UPF0041)
    6. NM_001376569.1NP_001363498.1  mitochondrial pyruvate carrier 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022069
      Conserved Domains (1) summary
      pfam03650
      Location:2458
      MPC; Uncharacterized protein family (UPF0041)
    7. 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
    2. NR_164828.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022069
    3. NR_164829.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022069
    4. NR_164830.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022069
    5. NR_164831.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022069

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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..166382940 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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