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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 nameGene Name - the full gene name approved by the HGNC.
Mitochondrial pyruvate carrier 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MPC1
SynonymsGene synonyms aliases
BRP44L, CGI-129, MPYCD, SLC54A1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion IDA
GO:0006850 Process Mitochondrial pyruvate transmembrane transport IBA 21873635
GO:0008150 Process Biological_process ND
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Diabetic cardiomyopathy  
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mitochondrial pyruvate carrier deficiency MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY rs387907237, rs387907238, rs1554264977 22628558, 27835892
Unknown
Disease name Disease term dbSNP ID References
Hypoglycemia Hypoglycemia

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