OTUD6B
entrez
51633
canonical
uniprot
Q8N6M0
canonical
ensembl
ENSG00000155100
resolver
ensp
ENSP00000285420
resolver
ensp
ENSP00000384190
resolver
ensp
ENSP00000481196
resolver
ensp
ENSP00000483706
resolver
ensp
ENSP00000580681
resolver
ensp
ENSP00000681972
resolver
enst
ENST00000285420
resolver
enst
ENST00000617869
resolver
genesymbol
OTUD6B
resolver
genesymbol_syn
DUBA5
resolver
hgnc
HGNC:24281
resolver
uniprot
A0A087X0W9
resolver
uniprot
A8K6I1
resolver
uniprot
B4DEY0
resolver
uniprot
Q9NTA4
resolver
uniprot
Q9Y387
resolver
uniprot_entry
A0A087X0W9_HUMAN
resolver
uniprot_entry
OTU6B_HUMAN
resolver
uniprot_sec
A8K6I1
resolver
uniprot_sec
B4DEY0
resolver
uniprot_sec
Q9NTA4
resolver
uniprot_sec
Q9Y387
resolver
amino_acid_sequence
MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEMEQKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRREKKAALEKEREERIAEAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALRSQTAEYMQSHVEDFLPFLTNPNTGDMYTPEEFQKYCEDIVNTAAWGGQLELRALSHILQTPIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRLVNIVTENCS
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) [MIM:617452]: An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. {ECO:0000269|PubMed:28343629}. 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: [Isoform 1]: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629). {ECO:0000269|PubMed:21267069, ECO:0000269|PubMed:27864334, ECO:0000269|PubMed:28343629}.; FUNCTION: [Isoform 2]: Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability. {ECO:0000269|PubMed:27864334}.
uniprot
proteins
mass_dalton
33813
uniprot
proteins
mutagenesis
MUTAGEN 158; /note="C->S: Abolishes the deubiquitinating enzyme activity."; /evidence="ECO:0000269|PubMed:21267069
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21267069
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23827681
uniprot
proteins
pubmed
27864334
uniprot
proteins
pubmed
28343629
uniprot
proteins
sequence_length
293
uniprot
proteins