Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MPC1 Gene

Aliases for MPC1 Gene

  • Mitochondrial Pyruvate Carrier 1 2 3 5
  • Brain Protein 44-Like Protein 3 4
  • BRP44L 3 4
  • Brain Protein 44-Like 2
  • HSPC040 Protein 3
  • DJ68L15.3 3
  • CGI-129 3
  • MPYCD 3

External Ids for MPC1 Gene

Previous HGNC Symbols for MPC1 Gene

  • BRP44L

Previous GeneCards Identifiers for MPC1 Gene

  • GC06M166778

Summaries for MPC1 Gene

Entrez Gene Summary for MPC1 Gene

  • 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]

GeneCards Summary for MPC1 Gene

MPC1 (Mitochondrial Pyruvate Carrier 1) is a Protein Coding gene. Diseases associated with MPC1 include Mitochondrial Pyruvate Carrier Deficiency and Kabuki Syndrome 1. Among its related pathways are Glucose / Energy Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include pyruvate transmembrane transporter activity.

UniProtKB/Swiss-Prot for MPC1 Gene

  • Mediates the uptake of pyruvate into mitochondria.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPC1 Gene

Genomics for MPC1 Gene

Regulatory Elements for MPC1 Gene

Enhancers for MPC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MPC1 on UCSC Golden Path with GeneCards custom track

Promoters for MPC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MPC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MPC1 Gene

166,364,919 bp from pter
166,383,013 bp from pter
18,095 bases
Minus strand

Genomic View for MPC1 Gene

Genes around MPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPC1 Gene

Proteins for MPC1 Gene

  • Protein details for MPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mitochondrial pyruvate carrier 1
    Protein Accession:
    Secondary Accessions:
    • B2R5I7
    • Q5TI66
    • Q9HB67
    • Q9UQN4

    Protein attributes for MPC1 Gene

    109 amino acids
    Molecular mass:
    12347 Da
    Quaternary structure:
    • The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2.
    • Sequence=AAG23822.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MPC1 Gene

Proteomics data for MPC1 Gene at MOPED

Post-translational modifications for MPC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPC1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MPC1 (BRP44L)
  • Santa Cruz Biotechnology (SCBT) Antibodies for MPC1

No data available for DME Specific Peptides for MPC1 Gene

Domains & Families for MPC1 Gene

Protein Domains for MPC1 Gene


Suggested Antigen Peptide Sequences for MPC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.
  • Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.
genes like me logo Genes that share domains with MPC1: view

No data available for Gene Families for MPC1 Gene

Function for MPC1 Gene

Molecular function for MPC1 Gene

UniProtKB/Swiss-Prot Function:
Mediates the uptake of pyruvate into mitochondria.

Gene Ontology (GO) - Molecular Function for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050833 pyruvate transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with MPC1: view
genes like me logo Genes that share phenotypes with MPC1: view

Human Phenotype Ontology for MPC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MPC1 Gene

miRTarBase miRNAs that target MPC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MPC1 Gene

Localization for MPC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPC1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for MPC1 Gene COMPARTMENTS Subcellular localization image for MPC1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MPC1 Gene

Pathways & Interactions for MPC1 Gene

genes like me logo Genes that share pathways with MPC1: view

Pathways by source for MPC1 Gene

Interacting Proteins for MPC1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
Selected Interacting proteins: ENSP00000354223 Q9Y5U8-MPC1_HUMAN for MPC1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0008150 biological_process ND --
GO:1902361 mitochondrial pyruvate transmembrane transport IEA --
genes like me logo Genes that share ontologies with MPC1: view

No data available for SIGNOR curated interactions for MPC1 Gene

Drugs & Compounds for MPC1 Gene

No Compound Related Data Available

Transcripts for MPC1 Gene

Unigene Clusters for MPC1 Gene

Mitochondrial pyruvate carrier 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MPC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP3: -
SP4: -

Relevant External Links for MPC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MPC1 Gene

mRNA expression in normal human tissues for MPC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPC1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.3) and Liver (x4.3).

Protein differential expression in normal tissues from HIPED for MPC1 Gene

This gene is overexpressed in Nasal epithelium (37.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MPC1 Gene

SOURCE GeneReport for Unigene cluster for MPC1 Gene Hs.172755

genes like me logo Genes that share expression patterns with MPC1: view

Protein tissue co-expression partners for MPC1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MPC1 Gene

Orthologs for MPC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BRP44L 35
  • 88.99 (n)
  • 97.25 (a)
MPC1 36
  • 97 (a)
(Canis familiaris)
Mammalia MPC1 35
  • 92.35 (n)
  • 97.25 (a)
(Mus musculus)
Mammalia Mpc1 35
  • 89.91 (n)
  • 94.5 (a)
Mpc1 16
Mpc1 36
  • 94 (a)
(Pan troglodytes)
Mammalia BRP44L 35
  • 99.08 (n)
  • 99.08 (a)
BRP44L 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Mpc1 35
  • 88.07 (n)
  • 94.5 (a)
(Monodelphis domestica)
Mammalia MPC1 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia MPC1 36
  • 94 (a)
(Gallus gallus)
Aves BRP44L 35
  • 81.27 (n)
  • 92.38 (a)
BRP44L 36
  • 89 (a)
(Anolis carolinensis)
Reptilia MPC1 36
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mpc1 35
  • 74.6 (n)
  • 86.67 (a)
Str.6055 35
(Danio rerio)
Actinopterygii mpc1 35
  • 73.97 (n)
  • 84.76 (a)
mpc1 36
  • 82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10974 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001417 35
  • 64.58 (n)
  • 67.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mpc1 35
  • 63.23 (n)
  • 65.98 (a)
CG14290 36
  • 60 (a)
(Caenorhabditis elegans)
Secernentea R07E5.13 35
  • 56.7 (n)
  • 56.7 (a)
R07E5.13 36
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL074C 35
  • 58.14 (n)
  • 56.98 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19361g 35
  • 58.33 (n)
  • 57.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP37 35
  • 58.24 (n)
  • 57.47 (a)
FMP37 36
  • 42 (a)
MPC1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G20090 35
  • 59.91 (n)
  • 62.16 (a)
(Hordeum vulgare)
Liliopsida Hv.7264 35
(Oryza sativa)
Liliopsida Os09g0373000 35
  • 63.06 (n)
  • 64.86 (a)
(Triticum aestivum)
Liliopsida Ta.20990 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02507 35
  • 55.1 (n)
  • 58.16 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1235.11 35
  • 54.42 (n)
  • 55.1 (a)
Species with no ortholog for MPC1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MPC1 Gene

Gene Tree for MPC1 (if available)
Gene Tree for MPC1 (if available)

Paralogs for MPC1 Gene

(3) SIMAP similar genes for MPC1 Gene using alignment to 2 proteins: Pseudogenes for MPC1 Gene

genes like me logo Genes that share paralogs with MPC1: view

No data available for Paralogs for MPC1 Gene

Variants for MPC1 Gene

Sequence variations from dbSNP and Humsavar for MPC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs11557064 - 166,366,861(-) GGGGT(A/C)TTCCC nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_068099 Mitochondrial pyruvate carrier deficiency (MPYCD)
VAR_068100 Mitochondrial pyruvate carrier deficiency (MPYCD)
rs1140900 -- 166,382,829(-) AGCAA(G/T)GATAT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs5881693 -- 166,378,418(+) ATACA(-/AT/TG/TGTG)TGTGT intron-variant

Variation tolerance for MPC1 Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPC1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MPC1 Gene

Disorders for MPC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MPC1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial pyruvate carrier deficiency
  • mpycd
kabuki syndrome 1
  • kabuki syndrome
plasma cell neoplasm
  • multiple myeloma
- elite association - COSMIC cancer census association via MalaCards
Search MPC1 in MalaCards View complete list of genes associated with diseases


  • Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]: An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. {ECO:0000269 PubMed:22628558}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MPC1: view

No data available for Genatlas for MPC1 Gene

Publications for MPC1 Gene

  1. A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. (PMID: 22628558) Bricker D.K. … Rutter J. (Science 2012) 2 3 4 67
  2. Synteny of orthologous genes conserved in mammals, snake, fly, nematode, and fission yeast. (PMID: 11252172) Trachtulec Z. … Forejt J. (Mamm. Genome 2001) 3 23
  3. A role for the mitochondrial pyruvate carrier as a repressor of the Warburg effect and colon cancer cell growth. (PMID: 25458841) Schell J.C. … Rutter J. (Mol. Cell 2014) 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3

Products for MPC1 Gene

Sources for MPC1 Gene