PSMD12
entrez
5718
canonical
uniprot
O00232
canonical
ensembl
ENSG00000197170
resolver
ensp
ENSP00000348442
resolver
ensp
ENSP00000349667
resolver
ensp
ENSP00000675834
resolver
genesymbol
PSMD12
resolver
hgnc
HGNC:9557
resolver
uniprot
A0A0S2Z476
resolver
uniprot
A0A0S2Z489
resolver
uniprot
A6NP15
resolver
uniprot
Q53HA2
resolver
uniprot
Q6P053
resolver
uniprot_entry
A0A0S2Z476_HUMAN
resolver
uniprot_entry
A0A0S2Z489_HUMAN
resolver
uniprot_entry
PSD12_HUMAN
resolver
uniprot_sec
A6NP15
resolver
uniprot_sec
Q53HA2
resolver
uniprot_sec
Q6P053
resolver
amino_acid_sequence
MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDMVSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPIKLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKKERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSYLSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIPKYKDLLKLFTTMELMRWSTLVEDYGMELRKGSLESPATDVFGSTEEGEKRWKDLKNRVVEHNIRIMAKYYTRITMKRMAQLLDLSVDESEAFLSNLVVNKTIFAKVDRLAGIINFQRPKDPNNLLNDWSQKLNSLMSLVNKTTHLIAKEEMIHNLQ
uniprot
proteins
disease_involvement
DISEASE: Stankiewicz-Isidor syndrome (STISS) [MIM:617516]: A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems. {ECO:0000269|PubMed:28132691}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. {ECO:0000269|PubMed:1317798}.
uniprot
proteins
mass_dalton
52904
uniprot
proteins
protein_family
Proteasome subunit p55 family
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
1317798
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17323924
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26030138
uniprot
proteins
pubmed
27342858
uniprot
proteins
pubmed
27428775
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28132691
uniprot
proteins
pubmed
9426256
uniprot
proteins
sequence_length
456
uniprot
proteins