MPC1 (mitochondrial pyruvate carrier 1)

Gene

• Entrez ID: 51660
• Gene name: Mitochondrial pyruvate carrier 1
• Gene symbol: MPC1
• Synonyms (NCBI Gene): BRP44L, CGI-129, MPYCD, SLC54A1
• 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 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT030294	hsa-miR-26b-5p	Microarray	19088304
MIRT043460	hsa-miR-331-3p	CLASH	23622248

Gene ontology (GO)

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
GO:0005743	Component	Mitochondrial inner membrane	IDA	26253029, 32403431
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0006850	Process	Pyruvate import into mitochondria	IBA
GO:0006850	Process	Pyruvate import into mitochondria	IDA	26253029, 27317664
GO:0006850	Process	Pyruvate import into mitochondria	IEA
GO:0006850	Process	Pyruvate import into mitochondria	ISS
GO:0016020	Component	Membrane	IEA
GO:0050833	Function	Pyruvate transmembrane transporter activity	IBA
GO:0098800	Component	Inner mitochondrial membrane protein complex	ISS

Other IDs

• MIM: 614738
• HGNC: 21606
• e!Ensembl: ENSG00000060762

Protein

• 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:

  MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGLPIAAINDMKKSPEIISGRMTFALC
  CYSLTFMRFAYKVQPRNWLLFACHATNEVAQLIQGGRLIKHEMTKTASA

• Sequence length: 109

Pathways

KEGG:

Diabetic cardiomyopathy

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial pyruvate carrier deficiency	Likely pathogenic; Pathogenic	rs867958037, rs1779135449, rs2114943862, rs387907237, rs387907238, rs1554264977	RCV001843375 RCV001843376 RCV002051591 RCV000029223 RCV000029224 RCV000578465	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser syndrome 3	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MPC1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30770798		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31813825		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	29286150		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20198662		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33276082	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29700317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32851100	Inhibit	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29669911, 30291323		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30764873		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30764873		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32664896	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38196829	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	27852261		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29547090, 29928345, 31236818		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29547090, 29928345, 31236818		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29547090, 29928345		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35242216	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31198086		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29286150		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29805642		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	30764873		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	30009661	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20198662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27852261		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26895100, 27852261, 28624784, 29286150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29123413		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26895100, 27852261, 29805642, 30801869		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	Mitochondrial Pyruvate Carrier Deficiency	ORPHANET_DG	22628558		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	Mitochondrial Pyruvate Carrier Deficiency	UNIPROT_DG	22628558		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial pyruvate carrier deficiency	Mitochondrial Pyruvate Carrier Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	Mitochondrial Pyruvate Carrier Deficiency	GENOMICS_ENGLAND_DG	27835892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	Mitochondrial Pyruvate Carrier Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	Mitochondrial Pyruvate Carrier Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	10911386, 36920785, 7780154, 8490175	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30887866, 31342211		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	30764873		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29123413, 29547090, 30291323, 31236818, 31641207		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36207479	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31641207		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26895100, 27852261, 28624784, 29286150		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29669911, 30291323		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29123413		★☆☆☆☆ Found in Text Mining only