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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
  • SLC54A1 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and 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 for MPC1 Gene

  • Mediates the uptake of pyruvate into mitochondria.

Additional gene information for MPC1 Gene

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

Genomics for MPC1 Gene

GeneHancer (GH) Regulatory Elements for MPC1 Gene

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
GH06I166381 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 227 3.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000261420 MPC1 GC06P166385 HNRNPA1P49 PRR18 SFT2D1 GC06M166360
GH06I166340 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.9 +40.5 40543 3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B SFT2D1 LOC100289495 MPC1 PRR18 HNRNPA1P49
GH06I166360 Enhancer 1.2 Ensembl ENCODE 12 +22.1 22064 1.5 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 ZNF121 GC06M166360 PRR18 MPC1 LOC100289495
GH06I166332 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.2 +49.2 49151 2 PKNOX1 EBF1 BATF IRF4 RELA GLIS2 POLR2A NFATC1 SCRT2 ETV6 HNRNPA1P49 MPC1 PRR18 SFT2D1
GH06I166351 Enhancer 1.1 Ensembl ENCODE 11.4 +30.8 30841 0.7 HDAC1 ELF3 PKNOX1 FOXA2 INSM2 ARID4B YY1 ZSCAN5C ZNF143 ATF7 MPC1 LOC100289495 GC06M166360
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPC1 on UCSC Golden Path with GeneCards custom track

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)

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=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MPC1 Gene

Post-translational modifications for MPC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPC1 Gene

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:
ProtoNet:

Suggested Antigen Peptide Sequences for MPC1 Gene

GenScript: Design optimal peptide antigens:

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.

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 IBA,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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 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:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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

Interacting Proteins for MPC1 Gene

Gene Ontology (GO) - Biological Process for MPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006850 mitochondrial pyruvate transmembrane transport IEA --
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

Unigene Clusters for MPC1 Gene

Mitochondrial pyruvate carrier 1:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MPC1 Gene



Protein tissue co-expression partners for MPC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MPC1 Gene:

MPC1

SOURCE GeneReport for Unigene cluster for MPC1 Gene:

Hs.172755

Evidence on tissue expression from TISSUES for MPC1 Gene

  • Liver(4.5)
  • Muscle(4.5)
  • Blood(4.3)
  • Bone marrow(2.5)
  • Heart(2.4)
  • Kidney(2)
  • Nervous system(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 33 34
  • 99.08 (n)
cow
(Bos Taurus)
Mammalia MPC1 34
  • 97 (a)
OneToOne
BRP44L 33
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MPC1 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPC1 33
  • 92.35 (n)
mouse
(Mus musculus)
Mammalia Mpc1 33 16 34
  • 89.91 (n)
oppossum
(Monodelphis domestica)
Mammalia MPC1 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpc1 33
  • 88.07 (n)
chicken
(Gallus gallus)
Aves BRP44L 33 34
  • 81.27 (n)
lizard
(Anolis carolinensis)
Reptilia MPC1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpc1 33
  • 74.6 (n)
Str.6055 33
zebrafish
(Danio rerio)
Actinopterygii mpc1 33 34
  • 73.97 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10974 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001417 33
  • 64.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mpc1 33
  • 63.23 (n)
CG14290 34
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R07E5.13 33 34
  • 56.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19361g 33
  • 58.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP37 33 34
  • 58.24 (n)
MPC1 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL074C 33
  • 58.14 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G20090 33
  • 59.91 (n)
rice
(Oryza sativa)
Liliopsida Os09g0373000 33
  • 63.06 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.7264 33
wheat
(Triticum aestivum)
Liliopsida Ta.20990 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02507 33
  • 55.1 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1235.11 33
  • 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 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

Paralogs for MPC1 Gene

(3) 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

Variants for MPC1 Gene

Sequence variations from dbSNP and Humsavar for MPC1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs387907237 pathogenic, Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741] 166,365,990(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs387907238 pathogenic, Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741] 166,366,043(-) A/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs79498685 likely-benign, not specified 166,382,847(-) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs139163077 uncertain-significance, not specified 166,365,442(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11557064 benign, not specified 166,366,861(-) G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

(2) MalaCards diseases for MPC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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.

Additional Disease Information for MPC1

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 58
  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 58
  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 22 58
  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 58
  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 58

Products for MPC1 Gene

Sources for MPC1 Gene

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