MPC1

Protein identityUniProt · HPA

UniProt accession

Q9Y5U8

Gene

MPC1

Ensembl

ENSG00000060762

Chromosome

6

Canonical length

109 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Mitochondria,Principal piece

Quaternary structure

Homodimer

OverviewNCBI 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 pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

109 residues, UniProt reviewed canonical sequence.

>Q9Y5U8|MPC1
     1  MAGALVRKAA DYVRSKDFRD YLMSTHFWGP VANWGLPIAA INDMKKSPEI ISGRMTFALC
    61  CYSLTFMRFA YKVQPRNWLL FACHATNEVA QLIQGGRLIK HEMTKTASA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MPC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

3

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

692 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MPC1.

Disease | AllUniProt

Conditions MPC1 is implicated in, by any mechanism.

• Mitochondrial pyruvate carrier deficiency (MPYCD) MIM:614741

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 65 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial pyruvate carrier deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.19

gnomAD pLI

0.04

gnomAD missense Z

1.07

DepMap mean gene effect

0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• pyruvate import into mitochondria

Molecular functions

• pyruvate transmembrane transporter activity

Cellular components

• inner mitochondrial membrane protein complex
• mitochondrial inner membrane
• mitochondrion
• sperm principal piece

Protein domainsUniProt · Pfam · InterPro

• Mitochondrial pyruvate carrier
• Mitochondrial pyruvate carriers

KeywordsUniProt

• Acetylation
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of MPC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MPC2