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Aliases for MPC1 Gene

Aliases for MPC1 Gene

  • Mitochondrial Pyruvate Carrier 1 2 3
  • BRP44L 3 4 6
  • Brain Protein 44-Like Protein 3 4
  • MPYCD 3 6
  • Brain Protein 44-Like 2
  • HSPC040 Protein 3
  • DJ68L15.3 3
  • CGI-129 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. Among its related pathways are 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MPC1 Gene

Start:
166,364,919 bp from pter
End:
166,383,013 bp from pter
Size:
18,095 bases
Orientation:
Minus strand

Genomic View for MPC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPC1 Gene

No data available for Regulatory Elements 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=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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MPC1 Gene

Domains for MPC1 Gene

Protein Domains for MPC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y5U8

UniProtKB/Swiss-Prot:

MPC1_HUMAN :
  • Q9Y5U8
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 and Suggested Antigen Peptide Sequences 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:0003674 molecular_function ND --
GO:0050833 pyruvate transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with MPC1: view

Phenotypes for MPC1 Gene

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

Animal Model Products

CRISPR Products

miRNA for MPC1 Gene

miRTarBase miRNAs that target MPC1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MPC1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPC1: view

No data available for Subcellular locations from COMPARTMENTS for MPC1 Gene

Pathways for MPC1 Gene

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

Interacting Proteins for MPC1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000354223%0d%0a9606.ENSP00000307241%0d%0a9606.ENSP00000369134%0d%0a9606.ENSP00000227868%0d%0a9606.ENSP00000205402%0d%0a9606.ENSP00000352657%0d%0a
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:0006850 mitochondrial pyruvate transport IEA --
GO:0008150 biological_process ND --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MPC1: view

Transcripts for MPC1 Gene

Unigene Clusters for MPC1 Gene

Mitochondrial pyruvate carrier 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MPC1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MPC1

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 (5.3) and Liver (4.3).

Integrated Proteomics: protein expression 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 expressions with MPC1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia BRP44L 35
  • 99.08 (n)
  • 99.08 (a)
BRP44L 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRP44L 35
  • 88.99 (n)
  • 97.25 (a)
MPC1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPC1 35
  • 92.35 (n)
  • 97.25 (a)
mouse
(Mus musculus)
Mammalia Mpc1 35
  • 89.91 (n)
  • 94.5 (a)
Mpc1 16
Mpc1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPC1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPC1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpc1 35
  • 88.07 (n)
  • 94.5 (a)
chicken
(Gallus gallus)
Aves BRP44L 35
  • 81.27 (n)
  • 92.38 (a)
BRP44L 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPC1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpc1 35
  • 74.6 (n)
  • 86.67 (a)
Str.6055 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10974 35
zebrafish
(Danio rerio)
Actinopterygii mpc1 35
  • 73.97 (n)
  • 84.76 (a)
mpc1 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001417 35
  • 64.58 (n)
  • 67.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14290 36
  • 60 (a)
OneToOne
Mpc1 35
  • 63.23 (n)
  • 65.98 (a)
worm
(Caenorhabditis elegans)
Secernentea R07E5.13 35
  • 56.7 (n)
  • 56.7 (a)
R07E5.13 36
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL074C 35
  • 58.14 (n)
  • 56.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP37 35
  • 58.24 (n)
  • 57.47 (a)
FMP37 36
  • 42 (a)
OneToOne
FMP37 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19361g 35
  • 58.33 (n)
  • 57.95 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G20090 35
  • 59.91 (n)
  • 62.16 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.7264 35
rice
(Oryza sativa)
Liliopsida Os09g0373000 35
  • 63.06 (n)
  • 64.86 (a)
wheat
(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

ENSEMBL:
Gene Tree for MPC1 (if available)
TreeFam:
Gene Tree for MPC1 (if available)

Paralogs for MPC1 Gene

Selected SIMAP similar genes for MPC1 Gene using alignment to 2 proteins:

Pseudogenes.org 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 MAF
rs3728 -- 166,365,191(+) AGAAA(G/T)TATTA utr-variant-3-prime, nc-transcript-variant
rs1140900 -- 166,382,829(-) AGCAA(G/T)GATAT utr-variant-5-prime, reference, missense, nc-transcript-variant
rs1546853 -- 166,383,423(-) CGTGG(A/G)TGTGG upstream-variant-2KB
rs1546854 -- 166,382,945(-) TGGCC(G/T)GGGTG utr-variant-5-prime, nc-transcript-variant
rs1546855 -- 166,382,498(-) TGGGC(A/G)CTCCT intron-variant

Relevant External Links for MPC1 Gene

HapMap Linkage Disequilibrium report
MPC1
Human Gene Mutation Database (HGMD)
MPC1

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

MalaCards: The human disease database. (1) Diseases for MPC1 Gene including...

Search for MPC1 Gene in MalaCards »

(1) OMIM Diseases for MPC1 Gene (614738)

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

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
  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. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4
  4. 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 Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for MPC1 Gene

Sources for MPC1 Gene

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