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

    Gene ID: 51660, updated on 11-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:21606
    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
    mouse all
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    Genomic context

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    Location:
    6q27
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (166364919..166382940, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (167741850..167759859, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 17775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:166755965-166756858 Neighboring gene uncharacterized LOC100289495 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:166761001-166762200 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 49 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:166776097-166776728 Neighboring gene SFT2 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17777 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:166807002-166807185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166813225-166813729 Neighboring gene uncharacterized LOC124901460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166848811-166849312 Neighboring gene ribosomal protein S6 kinase A2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:166863042-166863708 Neighboring gene RPS6KA2 intronic transcript 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. Jiang H, et al. J Inherit Metab Dis, 2022 Mar. PMID 34873722
    2. MPC1 Deficiency Promotes CRC Liver Metastasis via Facilitating Nuclear Translocation of β-Catenin. Tian GA, et al. J Immunol Res, 2020. PMID 32851100, Free PMC Article
    3. MPC1 deletion is associated with poor prognosis and temozolomide resistance in glioblastoma. Chai Y, et al. J Neurooncol, 2019 Sep. PMID 31236818
    4. Mitochondrial pyruvate carrier 1 expression controls cancer epithelial-mesenchymal transition and radioresistance. Takaoka Y, et al. Cancer Sci, 2019 Apr. PMID 30801869, Free PMC Article
    5. MPC1 deficiency accelerates lung adenocarcinoma progression through the STAT3 pathway. Zou H, et al. Cell Death Dis, 2019 Feb 15. PMID 30770798, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of mitochondrial pyruvate carrier 1 supports proline-dependent proliferation and collagen biosynthesis in ovarian cancer.
      Title: Loss of mitochondrial pyruvate carrier 1 supports proline-dependent proliferation and collagen biosynthesis in ovarian cancer.
    2. Mitochondrial pyruvate carrier 1 regulates fatty acid synthase lactylation and mediates treatment of nonalcoholic fatty liver disease.
      Title: Mitochondrial pyruvate carrier 1 regulates fatty acid synthase lactylation and mediates treatment of nonalcoholic fatty liver disease.
    3. Inactivation of mitochondrial pyruvate carrier promotes NLRP3 inflammasome activation and gout development via metabolic reprogramming.
      Title: Inactivation of mitochondrial pyruvate carrier promotes NLRP3 inflammasome activation and gout development via metabolic reprogramming.
    4. Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
      Title: Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
    5. Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
      Title: Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
    6. Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
      Title: Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
    7. MPC1 Deficiency Promotes CRC Liver Metastasis via Facilitating Nuclear Translocation of beta-Catenin.
      Title: MPC1 Deficiency Promotes CRC Liver Metastasis via Facilitating Nuclear Translocation of β-Catenin.
    8. Characteristic Analysis of Homo- and Heterodimeric Complexes of Human Mitochondrial Pyruvate Carrier Related to Metabolic Diseases.
      Title: Characteristic Analysis of Homo- and Heterodimeric Complexes of Human Mitochondrial Pyruvate Carrier Related to Metabolic Diseases.
    9. The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial Pyruvate Carrier.
      Title: The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial Pyruvate Carrier.
    10. A novel KDM5A/MPC-1 signaling pathway promotes pancreatic cancer progression via redirecting mitochondrial pyruvate metabolism.
      Title: A novel KDM5A/MPC-1 signaling pathway promotes pancreatic cancer progression via redirecting mitochondrial pyruvate metabolism.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial pyruvate carrier deficiency
    MedGen: C3553607 OMIM: 614741 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    involved_in mitochondrial pyruvate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial pyruvate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of inner mitochondrial membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001270879.2 → NP_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
      Related
      ENST00000487218.5
      Conserved Domains (1) summary
      pfam03650
      Location:1 → 66
      MPC; Uncharacterized protein family (UPF0041)

    2. NM_001376565.1 → NP_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
      Consensus CDS
      CCDS75547.1
      Conserved Domains (1) summary
      pfam03650
      Location:1 → 66
      MPC; Uncharacterized protein family (UPF0041)

    3. NM_001376566.1 → NP_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
      Consensus CDS
      CCDS75547.1
      Conserved Domains (1) summary
      pfam03650
      Location:1 → 66
      MPC; Uncharacterized protein family (UPF0041)

    4. NM_001376567.1 → NP_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
      Consensus CDS
      CCDS75547.1
      Conserved Domains (1) summary
      pfam03650
      Location:1 → 66
      MPC; Uncharacterized protein family (UPF0041)

    5. NM_001376568.1 → NP_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
      Consensus CDS
      CCDS75547.1
      Conserved Domains (1) summary
      pfam03650
      Location:1 → 66
      MPC; Uncharacterized protein family (UPF0041)

    6. NM_001376569.1 → NP_001363498.1  mitochondrial pyruvate carrier 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022069
      Conserved Domains (1) summary
      pfam03650
      Location:24 → 58
      MPC; Uncharacterized protein family (UPF0041)

    7. NM_016098.4 → NP_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
      B2R5I7, Q5TI66, Q9HB67, Q9UQN4, Q9Y5U8
      UniProtKB/TrEMBL
      A0A087WVZ0
      Related
      ENSP00000354223.6, ENST00000360961.11
      Conserved Domains (1) summary
      pfam03650
      Location:24 → 109
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      166364919..166382940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      167741850..167759859 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5U8.1 GenPept UniProtKB/Swiss-Prot:Q9Y5U8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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