MPC1 (mitochondrial pyruvate carrier 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51660
Gene name Mitochondrial pyruvate carrier 1
Gene symbol MPC1
Synonyms (NCBI Gene)
BRP44LCGI-129MPYCDSLC54A1
Chromosome 6
Chromosome location 6q27
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 pyruv
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs387907237 G>A Pathogenic 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs387907238 A>C,T Pathogenic Coding sequence variant, synonymous variant, missense variant, non coding transcript variant, intron variant
rs1554264977 T>C Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT030294 hsa-miR-26b-5p Microarray 19088304
MIRT043460 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31145700, 32296183, 33961781, 35278701
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614738 21606 ENSG00000060762
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5U8
Protein name Mitochondrial pyruvate carrier 1 (Brain protein 44-like protein)
Protein function Mediates the uptake of pyruvate into mitochondria.
PDB 8YW6 , 8YW8 , 8YW9 , 9KNW , 9KNX , 9KNY , 9MNW , 9MNX , 9MNY , 9MNZ , 9MO0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03650 MPC 10 → 109 Mitochondrial pyruvate carriers Family
Sequence
Sequence length 109
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Diabetic cardiomyopathy  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial pyruvate carrier deficiency Likely pathogenic; Pathogenic rs867958037, rs1779135449, rs2114943862, rs387907237, rs387907238, rs1554264977 RCV001843375
RCV001843376
RCV002051591
RCV000029223
RCV000029224
RCV000578465
Show/Hide Unknown Diseases (18)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs12205572 RCV005886643
Cervical cancer Benign rs12205572 RCV005886644
Cholangiocarcinoma Benign rs12205572 RCV005886652
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs12205572 RCV005886654
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 33276082
Colorectal Neoplasms Inhibit 32851100
Creutzfeldt Jakob Syndrome Inhibit 30009661
Diabetic Nephropathies Inhibit 32664896
Esophageal Neoplasms Associate 38196829
Glioma Associate 35242216
Malformations of Cortical Development Associate 30009661
Multiple Myeloma Associate 10911386, 36920785, 7780154, 8490175
Neoplasm Metastasis Inhibit 32851100
Neoplasms Associate 33243007