MPC1 (mitochondrial pyruvate carrier 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51660
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial pyruvate carrier 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MPC1
Synonyms (NCBI Gene) Gene synonyms aliases
BRP44L, CGI-129, MPYCD, SLC54A1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
Summary Summary of gene provided in NCBI Entrez 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 pyruv
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614738 21606 ENSG00000060762
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Pyruvate Carrier Deficiency mitochondrial pyruvate carrier deficiency rs387907237, rs387907238, rs1554264977 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease 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