PPM1D
entrez
8493
canonical
uniprot
O15297
canonical
ensembl
ENSG00000170836
resolver
ensp
ENSP00000306682
resolver
genesymbol
PPM1D
resolver
genesymbol_syn
WIP1
resolver
hgnc
HGNC:9277
resolver
uniprot
A0A0S2Z4M2
resolver
uniprot
Q53XP4
resolver
uniprot
Q6P991
resolver
uniprot
Q8IVR6
resolver
uniprot_entry
A0A0S2Z4M2_HUMAN
resolver
uniprot_entry
PPM1D_HUMAN
resolver
uniprot_sec
Q53XP4
resolver
uniprot_sec
Q6P991
resolver
uniprot_sec
Q8IVR6
resolver
amino_acid_sequence
MAGLYSLGVSVFSDQGGRKYMEDVTQIVVEPEPTAEEKPSPRRSLSQPLPPRPSPAALPGGEVSGKGPAVAAREARDPLPDAGASPAPSRCCRRRSSVAFFAVCDGHGGREAAQFAREHLWGFIKKQKGFTSSEPAKVCAAIRKGFLACHLAMWKKLAEWPKTMTGLPSTSGTTASVVIIRGMKMYVAHVGDSGVVLGIQDDPKDDFVRAVEVTQDHKPELPKERERIEGLGGSVMNKSGVNRVVWKRPRLTHNGPVRRSTVIDQIPFLAVARALGDLWSYDFFSGEFVVSPEPDTSVHTLDPQKHKYIILGSDGLWNMIPPQDAISMCQDQEEKKYLMGEHGQSCAKMLVNRALGRWRQRMLRADNTSAIVICISPEVDNQGNFTNEDELYLNLTDSPSYNSQETCVMTPSPCSTPPVKSLEEDPWPRVNSKDHIPALVRSNAFSENFLEVSAEIARENVQGVVIPSKDPEPLEENCAKALTLRIHDSLNNSLPIGLVPTNSTNTVMDQKNLKMSTPGQMKAQEIERTPPTNFKRTLEESNSGPLMKKHRRNGLSRSSGAQPASLPTTSQRKNSVKLTMRRRLRGQKKIGNPLLHQHRKTVCVC
uniprot
proteins
disease_involvement
DISEASE: Jansen-de Vries syndrome (JDVS) [MIM:617450]: An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. {ECO:0000269|PubMed:28343630}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:23242139}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:23242139}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.16
uniprot
proteins
function
FUNCTION: Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity). {ECO:0000250|UniProtKB:Q9QZ67, ECO:0000269|PubMed:15870257, ECO:0000269|PubMed:16311512, ECO:0000269|PubMed:21283629, ECO:0000269|PubMed:23242139}.
uniprot
proteins
mass_dalton
66675
uniprot
proteins
mutagenesis
MUTAGEN 314; /note="D->A: Abrogates phosphatase activity."; /evidence="ECO:0000269|PubMed:15870257
uniprot
proteins
protein_family
PP2C family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15870257
uniprot
proteins
pubmed
16311512
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21283629
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23242139
uniprot
proteins
pubmed
28343630
uniprot
proteins
pubmed
9177166
uniprot
proteins
sequence_length
605
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28343630, ECO:0000269|PubMed:9177166}. Cytoplasm, cytosol {ECO:0000269|PubMed:28343630}.
uniprot
proteins