MPC1
entrez
51660
canonical
uniprot
Q9Y5U8
canonical
ensembl
ENSG00000060762
resolver
ensp
ENSP00000354223
resolver
enst
ENST00000360961
resolver
genesymbol
MPC1
resolver
genesymbol_syn
BRP44L
resolver
hgnc
HGNC:21606
resolver
uniprot
B2R5I7
resolver
uniprot
Q5TI66
resolver
uniprot
Q9HB67
resolver
uniprot
Q9UQN4
resolver
uniprot_entry
MPC1_HUMAN
resolver
uniprot_sec
B2R5I7
resolver
uniprot_sec
Q5TI66
resolver
uniprot_sec
Q9HB67
resolver
uniprot_sec
Q9UQN4
resolver
amino_acid_sequence
MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGLPIAAINDMKKSPEIISGRMTFALCCYSLTFMRFAYKVQPRNWLLFACHATNEVAQLIQGGRLIKHEMTKTASA
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]: An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. {ECO:0000269|PubMed:22628558}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation (PubMed:22628558, PubMed:26253029, PubMed:27317664, PubMed:40044865, PubMed:40101766). Plays an essential role in cellular metabolism (PubMed:40044865, PubMed:40101766). {ECO:0000269|PubMed:22628558, ECO:0000269|PubMed:26253029, ECO:0000269|PubMed:27317664, ECO:0000269|PubMed:40044865, ECO:0000269|PubMed:40101766}.
uniprot
proteins
mass_dalton
12347
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="S->A: Impairs pyruvate uptake."; /evidence="ECO:0000269|PubMed:40101766
uniprot
proteins
protein_family
Mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22628558
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26253029
uniprot
proteins
pubmed
27317664
uniprot
proteins
pubmed
32403431
uniprot
proteins
pubmed
35278701
uniprot
proteins
pubmed
40044865
uniprot
proteins
pubmed
40101766
uniprot
proteins
sequence_length
109
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:22628558, ECO:0000269|PubMed:26253029}; Multi-pass membrane protein {ECO:0000269|PubMed:40044865, ECO:0000269|PubMed:40101766}.
uniprot
proteins
transmembrane_region
TRANSMEM 28..44; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:40044865, ECO:0000269|PubMed:40101766, ECO:0007744|PDB:8YW6, ECO:0007744|PDB:8YW8, ECO:0007744|PDB:8YW9, ECO:0007744|PDB:9KNW, ECO:0007744|PDB:9KNX, ECO:0007744|PDB:9KNY, ECO:0007744|PDB:9MNW, ECO:0007744|PDB:9MNX, ECO:0007744|PDB:9MNY, ECO:0007744|PDB:9MNZ, ECO:0007744|PDB:9MO0"; TRANSMEM 55..67; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:40044865, ECO:0000269|PubMed:40101766, ECO:0007744|PDB:8YW6, ECO:0007744|PDB:8YW8, ECO:0007744|PDB:8YW9, ECO:0007744|PDB:9KNW, ECO:0007744|PDB:9KNX, ECO:0007744|PDB:9KNY, ECO:0007744|PDB:9MNW, ECO:0007744|PDB:9MNX, ECO:0007744|PDB:9MNY, ECO:0007744|PDB:9MNZ, ECO:0007744|PDB:9MO0"; TRANSMEM 78..99; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:40044865, ECO:0000269|PubMed:40101766, ECO:0007744|PDB:8YW6, ECO:0007744|PDB:8YW8, ECO:0007744|PDB:8YW9, ECO:0007744|PDB:9KNW, ECO:0007744|PDB:9KNX, ECO:0007744|PDB:9KNY, ECO:0007744|PDB:9MNW, ECO:0007744|PDB:9MNX, ECO:0007744|PDB:9MNY, ECO:0007744|PDB:9MNZ, ECO:0007744|PDB:9MO0
uniprot
proteins