PDP1
entrez
54704
canonical
uniprot
Q9P0J1
canonical
ensembl
ENSG00000164951
resolver
ensp
ENSP00000297598
resolver
ensp
ENSP00000379503
resolver
ensp
ENSP00000555522
resolver
ensp
ENSP00000612062
resolver
ensp
ENSP00000612066
resolver
ensp
ENSP00000612068
resolver
genesymbol
PDP1
resolver
genesymbol
PPM2C
resolver
genesymbol_syn
PDP
resolver
genesymbol_syn
PPM2C
resolver
hgnc
HGNC:9279
resolver
uniprot
B3KX71
resolver
uniprot
J3KPU0
resolver
uniprot
Q5U5K1
resolver
uniprot
Q6P1N1
resolver
uniprot_entry
PDP1_HUMAN
resolver
uniprot_entry
Q6P1N1_HUMAN
resolver
uniprot_sec
B3KX71
resolver
uniprot_sec
J3KPU0
resolver
uniprot_sec
Q5U5K1
resolver
activity_regulation
ACTIVITY REGULATION: Magnesium-dependent and calcium-stimulated (By similarity). PDP1 activity strongly depends on its Ca(2+)-dependent binding to the lipoyl domain of E2 subunit of component of the pyruvate dehydrogenase complex (PubMed:15554715). {ECO:0000250|UniProtKB:P35816, ECO:0000269|PubMed:15554715}.
uniprot
proteins
amino_acid_sequence
MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
uniprot
proteins
disease_involvement
DISEASE: Pyruvate dehydrogenase phosphatase deficiency (PDP deficiency) [MIM:608782]: Results in lactic acidosis leading to neurological dysfunction. {ECO:0000269|PubMed:15855260, ECO:0000269|PubMed:19184109}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.43
uniprot
proteins
function
FUNCTION: Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA. {ECO:0000269|PubMed:15554715, ECO:0000305|PubMed:15855260}.
uniprot
proteins
mass_dalton
61054
uniprot
proteins
protein_family
PP2C family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15554715
uniprot
proteins
pubmed
15855260
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19184109
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
537
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19184109}.
uniprot
proteins