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... See more...

Aliases for MPC1 Gene

Aliases for MPC1 Gene

  • Mitochondrial Pyruvate Carrier 1 2 3 4 5
  • Brain Protein 44-Like Protein 3 4
  • CGI-129 2 3
  • SLC54A1 2 3
  • BRP44L 3 4
  • Brain Protein 44-Like 2
  • HSPC040 Protein 3
  • DJ68L15.3 2
  • MPYCD 3
  • MPC1 5

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 Pyruvate metabolism and Citric Acid (TCA) cycle and Glucose metabolism. Gene Ontology (GO) annotations related to this gene include pyruvate transmembrane transporter activity. An important paralog of this gene is MPC1L.

UniProtKB/Swiss-Prot Summary for MPC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPC1 Gene

Genomics for MPC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MPC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J166381 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 312 3.8 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 RFX1 NFKBIZ ZNF692 POLR2A ENSG00000261420 MPC1 lnc-MPC1-2 SFT2D1 PRR18 piR-40666-016
GH06J166340 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.9 +40.5 40527 3 SP1 HNRNPL ZNF629 KDM1A ZNF692 POLR2A BACH1 JUND LARP7 STAT3 SFT2D1 LOC100289495 lnc-PRR18-1 HNRNPA1P49 MPC1 PRR18
GH06J166360 Enhancer 1 ENCODE 12 +22.1 22064 1.5 GATAD2A REST TFE3 SOX13 NFKBIZ RCOR2 ZNF7 JUND GABPA ZIC2 PRR18 MPC1 piR-40666-016 RF00994-974 SFT2D1
GH06J166332 Enhancer 0.9 ENCODE dbSUPER 12.2 +49.2 49151 2 SP1 IKZF1 POLR2A RELA PKNOX1 YY1 SCRT2 RELB RUNX3 GATAD2B HNRNPA1P49 MPC1 PRR18 SFT2D1 lnc-PRR18-1 piR-55029-014
GH06J166317 Enhancer 0.9 ENCODE dbSUPER 11.7 +64.4 64409 2.1 POLR2A ZIC2 PKNOX1 SMAD5 HDAC1 EGR1 CTBP1 ZNF316 ZSCAN5C MAFF SFT2D1 MPC1 HNRNPA1P49 piR-55029-014 PRR18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPC1

Genomic Locations for MPC1 Gene

Genomic Locations for MPC1 Gene
chr6:166,364,919-166,383,013
(GRCh38/hg38)
Size:
18,095 bases
Orientation:
Minus strand
chr6:166,778,407-166,796,486
(GRCh37/hg19)
Size:
18,080 bases
Orientation:
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:
    Q9Y5U8-MPC1_HUMAN
    Recommended name:
    Mitochondrial pyruvate carrier 1
    Protein Accession:
    Q9Y5U8
    Secondary Accessions:
    • B2R5I7
    • Q5TI66
    • Q9HB67
    • Q9UQN4

    Protein attributes for MPC1 Gene

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

neXtProt entry for MPC1 Gene

Post-translational modifications for MPC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MPC1 Gene

Domains & Families for MPC1 Gene

Gene Families for MPC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for MPC1 Gene

InterPro:
Blocks:
  • Protein of unknown function UPF0041
ProtoNet:

Suggested Antigen Peptide Sequences for MPC1 Gene

GenScript: Design optimal peptide antigens:
  • Brain protein 44-like protein (BR44L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5U8

UniProtKB/Swiss-Prot:

MPC1_HUMAN :
  • Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.
Family:
  • Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.
genes like me logo Genes that share domains with MPC1: view

Function for MPC1 Gene

Molecular function for MPC1 Gene

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

Phenotypes From GWAS Catalog for MPC1 Gene

Gene Ontology (GO) - Molecular Function for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0050833 pyruvate transmembrane transporter activity IEA,IBA 21873635
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

CRISPR Products

miRNA for MPC1 Gene

miRTarBase miRNAs that target MPC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPC1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IBA 21873635
genes like me logo Genes that share ontologies with MPC1: view

Pathways & Interactions for MPC1 Gene

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

Pathways by source for MPC1 Gene

Gene Ontology (GO) - Biological Process for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006850 mitochondrial pyruvate transmembrane transport IEA,IBA 21873635
GO:0008150 biological_process ND --
GO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate IEA --
GO:1990830 cellular response to leukemia inhibitory factor 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

(1) Drugs for MPC1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
UK 5099 Pharma MCTs and MPC inhibitor, MCT inhibitor; also inhibits of pyruvate transport 0

(1) ApexBio Compounds for MPC1 Gene

Compound Action Cas Number
UK-5099 MCTs and MPC inhibitor 56396-35-1
genes like me logo Genes that share compounds with MPC1: view

Drug Products

Transcripts for MPC1 Gene

mRNA/cDNA for MPC1 Gene

7 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPC1

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP2:
SP3: -
SP4: -

Relevant External Links for MPC1 Gene

GeneLoc Exon Structure for
MPC1

Expression for MPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MPC1 Gene



Protein tissue co-expression partners for MPC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPC1

SOURCE GeneReport for Unigene cluster for MPC1 Gene:

Hs.172755

Evidence on tissue expression from TISSUES for MPC1 Gene

  • Muscle(4.6)
  • Liver(4.6)
  • Blood(4.4)
  • Heart(3.2)
  • Nervous system(2.8)
  • Kidney(2.7)
  • Skin(2.5)
  • Bone marrow(2.5)
  • Intestine(2.3)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MPC1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia BRP44L 30 31
  • 99.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MPC1 31
  • 97 (a)
OneToOne
BRP44L 30
  • 88.99 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MPC1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MPC1 30
  • 92.35 (n)
Mouse
(Mus musculus)
Mammalia Mpc1 30 17 31
  • 89.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MPC1 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mpc1 30
  • 88.07 (n)
Chicken
(Gallus gallus)
Aves BRP44L 30 31
  • 81.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MPC1 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mpc1 30
  • 74.6 (n)
Str.6055 30
Zebrafish
(Danio rerio)
Actinopterygii mpc1 30 31
  • 73.97 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10974 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001417 30
  • 64.58 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Mpc1 30
  • 63.23 (n)
CG14290 31
  • 60 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R07E5.13 30 31
  • 56.7 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19361g 30
  • 58.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP37 30 31
  • 58.24 (n)
OneToOne
MPC1 33
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL074C 30
  • 58.14 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G20090 30
  • 59.91 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0373000 30
  • 63.06 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.7264 30
Wheat
(Triticum aestivum)
Liliopsida Ta.20990 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU02507 30
  • 55.1 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1235.11 30
  • 54.42 (n)
Species where no ortholog for MPC1 was found in the sources mined by GeneCards:
  • 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 Vase (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

ENSEMBL:
Gene Tree for MPC1 (if available)
TreeFam:
Gene Tree for MPC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPC1: view image

Paralogs for MPC1 Gene

Paralogs for MPC1 Gene

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

  • MPC1_HUMAN
  • H7BXW7_HUMAN

Pseudogenes.org Pseudogenes for MPC1 Gene

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

Variants for MPC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPC1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
650389 Uncertain Significance: not provided 166,366,893(-) T/C SPLICE_ACCEPTOR_VARIANT
669503 Benign: not provided 166,383,177(-) C/T
673173 Likely Benign: not provided 166,383,333(-) G/A
682624 Benign: not provided 166,383,344(-) C/G
682625 Benign: not provided 166,383,232(-) T/C

Additional dbSNP identifiers (rs#s) for MPC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MPC1 Gene

Variant ID Type Subtype PubMed ID
nsv523548 CNV loss 19592680

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)

Additional Variant Information for MPC1 Gene

Human Gene Mutation Database (HGMD)
MPC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPC1 Gene

Disorders for MPC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MPC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MPC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPC1_HUMAN
  • 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.
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 DK … Rutter J (Science (New York, N.Y.) 2012) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Synteny of orthologous genes conserved in mammals, snake, fly, nematode, and fission yeast. (PMID: 11252172) Trachtulec Z … Forejt J (Mammalian genome : official journal of the International Mammalian Genome Society 2001) 3 23
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4

Products for MPC1 Gene

  • Signalway ELISA kits for MPC1
  • Signalway Proteins for MPC1

Sources for MPC1 Gene