51660 - Gene ResultMPC1 Mitochondrial Pyruvate Carrier 1 [ (human)]
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Go to the top of the page Help 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 NEW Try the new Gene table Try the new Transcript tableGenomic context
Go to the top of the page Help See MPC1 in Genome Data Viewer Location: 6q27 Exon count: 7| Annotation release | Status | Assembly | Chr | Location |
|---|---|---|---|---|
| RS_2025_08 | current | GRCh38.p14 (GCF_000001405.40) | 6 | NC_000006.12 (166364919..166382940, complement) |
| RS_2025_08 | current | T2T-CHM13v2.0 (GCF_009914755.1) | 6 | NC_060930.1 (167741850..167759859, complement) |
| RS_2024_09 | previous assembly | GRCh37.p13 (GCF_000001405.25) | 6 | NC_000006.11 (166778407..166796428, complement) |
Chromosome 6 - NC_000006.12
Genomic regions, transcripts, and products
Go to the top of the page Help Go to reference sequence detailsGenomic Sequence: NC_000006.12 Chromosome 6 Reference GRCh38.p14 Primary Assembly NG_032888.1 RefSeqGene NC_060930.1 Chromosome 6 Alternate T2T-CHM13v2.0 NC_000006.11 Chromosome 6 Reference GRCh37.p13 Primary Assembly
Go to nucleotide: Graphics FASTA GenBank
Expression
Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues- Project title: Tissue-specific circular RNA induction during human fetal development
- Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
- BioProject: PRJNA270632
- Publication: PMID 26076956
- Analysis date: Mon Apr 2 22:54:59 2018
Bibliography
Go to the top of the pageHelpRelated articles in PubMed
- 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
- Mitochondrial pyruvate carrier 1 functions as a tumor suppressor and predicts the prognosis of human renal cell carcinoma. Tang XP, et al. Lab Invest, 2019 Feb. PMID 30291323
- 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
- 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
- MPC1 deletion is associated with poor prognosis and temozolomide resistance in glioblastoma. Chai Y, et al. J Neurooncol, 2019 Sep. PMID 31236818
See all (51) citations in PubMed
GeneRIFs: Gene References Into Functions
What's a GeneRIF?- Exploring MPC1 as a potential ferroptosis-linked biomarker in the cervical cancer tumor microenvironment: a comprehensive analysis. Title: Exploring MPC1 as a potential ferroptosis-linked biomarker in the cervical cancer tumor microenvironment: a comprehensive analysis.
- Metabolism-focused CRISPR screen unveils mitochondrial pyruvate carrier 1 as a critical driver for PARP inhibitor resistance in lung cancer. Title: Metabolism-focused CRISPR screen unveils mitochondrial pyruvate carrier 1 as a critical driver for PARP inhibitor resistance in lung cancer.
- 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.
- 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.
- 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.
- 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.
- Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes. Title: Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
- Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy. Title: Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
- 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.
- 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.
Phenotypes
Go to the top of the page HelpFind 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
Go to the top of the page HelpSee variants in ClinVar
See studies and variants in dbVar
See Variation Viewer (GRCh37.p13)
See Variation Viewer (GRCh38)
Pathways from PubChem
Go to the top of the pageInteractions
Go to the top of the page Help| Products | Interactant | Other Gene | Complex | Source | Pubs | Description |
|---|
General gene information
Go to the top of the page HelpMarkers
- D6S2045 (e-PCR)
- UniSTS:47929
- STS-H93543 (e-PCR)
- UniSTS:67136
- STS-T87067 (e-PCR)
- UniSTS:41793
- G20555 (e-PCR)
- UniSTS:7869
- STS-G20555 (e-PCR)
- UniSTS:7870
- RH46753 (e-PCR)
- UniSTS:85448
- RH79004 (e-PCR)
- UniSTS:23274
Homology
- NCBI Orthologs Orthologs from OrthoDB
Gene Ontology Provided by GOA
| Function | Evidence Code | Pubs |
|---|---|---|
| enables pyruvate transmembrane transporter activity | IBA Inferred from Biological aspect of Ancestormore info |
| Process | Evidence Code | Pubs |
|---|---|---|
| involved_in pyruvate import into mitochondria | IBA Inferred from Biological aspect of Ancestormore info | |
| involved_in pyruvate import into mitochondria | IDA Inferred from Direct Assaymore info | PubMed |
| involved_in pyruvate import into mitochondria | IEA Inferred from Electronic Annotationmore info | |
| involved_in pyruvate import into mitochondria | ISS Inferred from Sequence or Structural Similaritymore info |
| Component | Evidence Code | Pubs |
|---|---|---|
| part_of inner mitochondrial membrane protein complex | ISS Inferred from Sequence or Structural Similaritymore info | |
| is_active_in mitochondrial inner membrane | IBA Inferred from Biological aspect of Ancestormore info | |
| located_in mitochondrial inner membrane | IDA Inferred from Direct Assaymore info | PubMed |
| located_in mitochondrial inner membrane | IEA Inferred from Electronic Annotationmore info | |
| located_in mitochondrion | HTP more info | PubMed |
| located_in mitochondrion | IDA Inferred from Direct Assaymore info |
General protein information
Go to the top of the page Help Preferred Names mitochondrial pyruvate carrier 1 Names HSPC040 protein brain protein 44-like proteinNCBI Reference Sequences (RefSeq)
Go to the top of the page HelpNEW 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
-
NG_032888.1 RefSeqGene
Range 5074..23095 Download GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
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 pfam03650Location:1 → 66 MPC; Uncharacterized protein family (UPF0041) -
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 pfam03650Location:1 → 66 MPC; Uncharacterized protein family (UPF0041) -
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 pfam03650Location:1 → 66 MPC; Uncharacterized protein family (UPF0041) -
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 pfam03650Location:1 → 66 MPC; Uncharacterized protein family (UPF0041) -
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 pfam03650Location:1 → 66 MPC; Uncharacterized protein family (UPF0041) -
NM_001376569.1 → NP_001363498.1 mitochondrial pyruvate carrier 1 isoform 3
Status: REVIEWED
Source sequence(s) AL022069 Conserved Domains (1) summary pfam03650Location:24 → 58 MPC; Uncharacterized protein family (UPF0041) -
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 pfam03650Location:24 → 109 MPC; Uncharacterized protein family (UPF0041)
RNA
-
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 -
NR_164828.1 RNA Sequence
Status: REVIEWED
Source sequence(s) AL022069 -
NR_164829.1 RNA Sequence
Status: REVIEWED
Source sequence(s) AL022069 -
NR_164830.1 RNA Sequence
Status: REVIEWED
Source sequence(s) AL022069 -
NR_164831.1 RNA Sequence
Status: REVIEWED
Source sequence(s) AL022069
RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08
The following sections contain reference sequences that belong to a specific genome build. Explain
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000006.12 Reference GRCh38.p14 Primary Assembly
Range 166364919..166382940 complement Download GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060930.1 Alternate T2T-CHM13v2.0
Range 167741850..167759859 complement Download GenBank, FASTA, Sequence Viewer (Graphics)
Related sequences
Go to the top of the page Help| Nucleotide | Protein | |
|---|---|---|
| Heading | Accession and Version | |
| Protein Accession | Links | |
|---|---|---|
| GenPept Link | UniProtKB Link | |
| Q9Y5U8.1 | GenPept | UniProtKB/Swiss-Prot:Q9Y5U8 |
Additional links
Go to the top of the pageHelpGene LinkOut
The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.
Chemical Information- Interologous Interaction Database
- Interologous Interaction Database
- MilliporeSigma
- Mpc1 products
- Bgee database
- MPC1 gene expression
- BioGPS
- BioGPS
- BioGRID Open Repository of CRISPR Screens (ORCS)
- BioGRID CRISPR Screen Phenotypes (23 hits/1391 screens)
- CTD: Comparative Toxicogenomics Database
- CTD: Comparative Toxicogenomics Database - MPC1
- GlyGen glycoinformatics resource
- GlyGen glycoinformatics resource
- Guide to Pharmacology
- mitochondrial pyruvate carrier 1 / SLC54A1 gene
- Human eFP Browser
- Human eFP Browser
- Human eFP Browser
- Human eFP Browser
- Ingenuity Pathways Analysis
- Ingenuity Pathways Analysis
- InnateDB
- InnateDB
- InterMine
- InterMine
- Kyoto Encyclopedia of Genes and Genomes
- Kyoto Encyclopedia of Genes and Genomes
- OMA Browser: Orthologous MAtrix
- OMA Browser: Orthologous MAtrix
- OMA Browser: Orthologous MAtrix
- OMA Browser: Orthologous MAtrix
- OrthoDB catalog of orthologs
- Orthologs
- PhosphoSitePlus
- PhosphoSitePlus® - comprehensive post-translational modification resource
- The Weizmann Institute of Science GeneCards and MalaCards databases
- GeneCard for MPC1
- Addgene Non-profit plasmid repository
- Get Plasmids - Addgene
- Bio-Techne
- BRP44L Lysates
- BRP44L Proteins
- BRP44L Antibodies
- Creative Biogene
- mitochondrial pyruvate carrier 1
- mitochondrial pyruvate carrier 1
- ExactAntigen/Labome
- reagents
- reagent review
- GenScript latest version of gene cDNA ORF Clone
- GenScript latest version of gene cDNA ORF Clone
- GeneCopoeia Inc.
- Order TALEN/CRISPR clones
- Order miRNA target clones
- Order full-length ORF clone
- OriGene Technologies
- Order GeneID 51660 cDNA Clone|Lysate|Protein|Antibody|RNAi
- GeneMANIA
- GeneMANIA
- Reactome
- Reactome Event:Metabolism
- Reactome Entity:Q9Y5U8
Supplemental Content
Table of contents
- Summary
- Genomic context
- Genomic regions, transcripts, and products
- Expression
- Bibliography
- Phenotypes
- Variation
- Pathways from PubChem
- Interactions
- General gene information Markers, Homology, Gene Ontology
- General protein information
- NCBI Reference Sequences (RefSeq)
- Related sequences
- Additional links
Genome Browsers
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Related information
- Order cDNA clone Order cDNA clone
- 3D structures 3D structure of a gene
- BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
- BioAssay by Target (Summary) Summarized PubChem Data on the gene, showing the active data by default
- BioAssay, by Gene target PubChem BioAssays done on the Gene target
- BioAssays, RNAi Target, Active BioAssays that contain the gene as the target of a RNAi reagent, which is identified as a hit in a RNAi screening and flagged as "active" in the corresponding BioAssay record
- BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
- BioProjects BioProjects related to a gene
- CCDS Link to CCDS
- ClinVar Related medical variations
- Conserved Domains Related CDD
- dbVar Link from Gene to dbVar
- Full text in PMC PMC links
- Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
- GAP GAP Links
- Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
- Genes with a similar H3K4me3 profile Genes with a similar profile of promoter-activating H3K4me3 modifications across several tissue types
- Genome Related Genome
- GEO Profiles Related GEO
- GTR Tests for this gene in the NIH Genetic Testing Registry
- HomoloGene Related HomoloGene
- MedGen Related information in MedGen
- Nucleotide Link to related Nucleotide entry
- OMIM Link to related OMIM entry
- Protein Link to related protein entry
- PubChem Compound PubChem Compounds
- PubChem Substance PubChem Substances
- PubMed Link to related PubMed entry
- PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
- PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
- PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
- RefSeq Proteins Link to Protein RefSeqs
- RefSeq RNAs Link to Nucleotide RefSeq RNAs
- RefSeqGene Link to Nucleotide RefSeqGenes
- SNP Related SNP records
- Taxonomy Link to related taxonomy entry
- Variation Viewer Related Variants
Links to other resources
- HGNC
- Ensembl
- AllianceGenome
- AceView
- UCSC
- MGC
- HuGE Navigator
- KEGG
- Reactome
General information
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