• Gene id: 51660

Gene Summary

• Gene Symbol: MPC1   Gene   UCSC   Ensembl
• Aliases: BRP44L, CGI-129, MPYCD, SLC54A1
• Gene name: mitochondrial pyruvate carrier 1
• Alternate names: mitochondrial pyruvate carrier 1, HSPC040 protein, brain protein 44-like protein,
• Gene location: 6q27 (166382939: 166364918)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 614738

Protein Summary

• Protein general information: Q9Y5U8  
  • Name: Mitochondrial pyruvate carrier 1 (Brain protein 44 like protein)
  • Length: 109  
  • Mass: 12347
• Sequence:

  MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGLPIAAINDMKKSPEIISGRMTFALCCYSLTFMRFAYKVQP
  RNWLLFACHATNEVAQLIQGGRLIKHEMTKTASA

• Structural information:
  • Interpro: IPR005336  
  • STRING: ENSP00000354223
• Other Databases: GeneCards:  MPC1  Malacards:  MPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006850	mitochondrial pyruvate transmembrane transport	IBA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0050833	pyruvate transmembrane transporter activity	IBA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006850	mitochondrial pyruvate transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0061732	mitochondrial acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0050833	pyruvate transmembrane transporter activity	IEA	molecular function
GO:0006850	mitochondrial pyruvate transmembrane transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Mitochondrial pyruvate carrier deficiency	KEGG:H02197
Mitochondrial pyruvate carrier deficiency	KEGG:H02197
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881