PPP2R5D
entrez
5528
canonical
uniprot
Q14738
canonical
ensembl
ENSG00000112640
resolver
ensp
ENSP00000377669
resolver
ensp
ENSP00000417963
resolver
ensp
ENSP00000420674
resolver
genesymbol
PPP2R5D
resolver
hgnc
HGNC:9312
resolver
uniprot
A8K3I9
resolver
uniprot
B5BUA6
resolver
uniprot
O00494
resolver
uniprot
O00696
resolver
uniprot
Q15171
resolver
uniprot
Q5TC39
resolver
uniprot_entry
2A5D_HUMAN
resolver
uniprot_sec
A8K3I9
resolver
uniprot_sec
B5BUA6
resolver
uniprot_sec
O00494
resolver
uniprot_sec
O00696
resolver
uniprot_sec
Q15171
resolver
uniprot_sec
Q5TC39
resolver
amino_acid_sequence
MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL
uniprot
proteins
disease_involvement
DISEASE: Houge-Janssens syndrome 1 (HJS1) [MIM:616355]: An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Additional more variable features may include macrocephaly and seizures. {ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:25972378, ECO:0000269|PubMed:26168268}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.
uniprot
proteins
mass_dalton
69992
uniprot
proteins
protein_family
Phosphatase 2A regulatory subunit B56 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541025
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22976297
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25533962
uniprot
proteins
pubmed
25972378
uniprot
proteins
pubmed
26168268
uniprot
proteins
pubmed
30615140
uniprot
proteins
pubmed
37761890
uniprot
proteins
pubmed
8566219
uniprot
proteins
pubmed
8703017
uniprot
proteins
pubmed
9180267
uniprot
proteins
sequence_length
602
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Nuclear in interphase, nuclear during mitosis.
uniprot
proteins