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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
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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
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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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