OTUD5
entrez
55593
canonical
uniprot
Q96G74
canonical
ensembl
ENSG00000068308
resolver
ensembl
ENSG00000292211
resolver
ensp
ENSP00000156084
resolver
ensp
ENSP00000365671
resolver
ensp
ENSP00000379969
resolver
ensp
ENSP00000401629
resolver
ensp
ENSP00000578326
resolver
ensp
ENSP00000578328
resolver
genesymbol
OTUD5
resolver
hgnc
HGNC:25402
resolver
uniprot
B4DGG7
resolver
uniprot
G5E9D7
resolver
uniprot
Q4KMN9
resolver
uniprot
Q8N6T5
resolver
uniprot
Q9H650
resolver
uniprot
Q9H9U0
resolver
uniprot
Q9NT65
resolver
uniprot_entry
OTUD5_HUMAN
resolver
uniprot_sec
B4DGG7
resolver
uniprot_sec
G5E9D7
resolver
uniprot_sec
Q4KMN9
resolver
uniprot_sec
Q8N6T5
resolver
uniprot_sec
Q9H650
resolver
uniprot_sec
Q9H9U0
resolver
uniprot_sec
Q9NT65
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by N-ethyl-maleimide (NEM). {ECO:0000269|PubMed:17991829}.
uniprot
proteins
amino_acid_sequence
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHRWALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGAVGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHRDPPPDKS
uniprot
proteins
disease_involvement
DISEASE: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056]: An X-linked recessive, congenital disorder characterized by central nervous system, craniofacial, cardiac, skeletal, and genitourinary anomalies. Clinical features include poor growth, short stature, global developmental delay, impaired intellectual development, microcephaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and other variable abnormalities. Brain imaging typically shows ventriculomegaly and thin corpus callosum. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. {ECO:0000269|PubMed:33523931}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.19.12
uniprot
proteins
function
FUNCTION: Deubiquitinating enzyme that functions as a negative regulator of the innate immune system (PubMed:17991829, PubMed:22245969, PubMed:23827681, PubMed:33523931). Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:22245969). Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro) (PubMed:22245969). Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production (PubMed:17991829). Controls neuroectodermal differentiation through cleaving 'Lys-48'-linked ubiquitin chains to counteract degradation of select chromatin regulators such as ARID1A, HDAC2 and HCF1 (PubMed:33523931). Acts as a positive regulator of mTORC1 and mTORC2 signaling following phosphorylation by MTOR: acts by mediating deubiquitination of BTRC, leading to its stability (PubMed:33110214). {ECO:0000269|PubMed:17991829, ECO:0000269|PubMed:22245969, ECO:0000269|PubMed:23827681, ECO:0000269|PubMed:33110214, ECO:0000269|PubMed:33523931}.
uniprot
proteins
mass_dalton
60626
uniprot
proteins
mutagenesis
MUTAGEN 177; /note="S->D,E: Loss of deubiquitinase activity. Abolishes activation by protein kinases."; /evidence="ECO:0000269|PubMed:22245969"; MUTAGEN 224; /note="C->S: Loss of deubiquitinase activity. Loss of suppression of IFN production. No effect on nuclear location."; /evidence="ECO:0000269|PubMed:17991829, ECO:0000269|PubMed:22245969, ECO:0000269|PubMed:33110214, ECO:0000269|PubMed:33523931"; MUTAGEN 328; /note="S->A: Reduced phosphorylation. Reduced ability to promote stabilization of BTRC; when associated with A-337 and A-508."; /evidence="ECO:0000269|PubMed:33110214"; MUTAGEN 337; /note="S->A: Reduced phosphorylation. Reduced ability to promote stabilization of BTRC; when associated with A-328 and A-508."; /evidence="ECO:0000269|PubMed:33110214"; MUTAGEN 508; /note="S->A: Reduced phosphorylation. Reduced ability to promote stabilization of BTRC; when associated with A-328 and A-337."; /evidence="ECO:0000269|PubMed:33110214"; MUTAGEN 542; /note="L->A: Loss of 'K-48'- and 'K-63'-linked polyubiquitin chain binding. Partial loss of TRAF3 deubiquitination; when associated with A-549."; /evidence="ECO:0000269|PubMed:17991829"; MUTAGEN 549; /note="S->A: Loss of 'K-48'- and 'K-63'-linked polyubiquitin chain binding. Partial loss of TRAF3 deubiquitination; when associated with A-542."; /evidence="ECO:0000269|PubMed:17991829
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-177 is required for deubiquitinating activity (PubMed:22245969, PubMed:33523931). Phosphorylation at Ser-328, Ser-337 and Ser-508 by MTOR promotes its activity (PubMed:33110214). {ECO:0000269|PubMed:22245969, ECO:0000269|PubMed:33110214, ECO:0000269|PubMed:33523931}.
uniprot
proteins
protein_family
Peptidase C85 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
17991829
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22245969
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23827681
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33110214
uniprot
proteins
pubmed
33523931
uniprot
proteins
sequence_length
571
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:33523931}.
uniprot
proteins