Q8N6M0 · OTU6B_HUMAN
- ProteinDeubiquitinase OTUD6B
- GeneOTUD6B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids293 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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).
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).
Isoform 2
Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability.
Catalytic activity
Features
Showing features for active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 155 | |||||
Sequence: D | ||||||
Active site | 158 | Nucleophile | ||||
Sequence: C | ||||||
Active site | 277 | |||||
Sequence: H |
GO annotations
Aspect | Term | |
---|---|---|
Molecular Function | cysteine-type deubiquitinase activity | |
Biological Process | cell population proliferation | |
Biological Process | negative regulation of translation | |
Biological Process | positive regulation of translation | |
Biological Process | proteasome assembly | |
Biological Process | protein deubiquitination | |
Biological Process | proteolysis |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameDeubiquitinase OTUD6B
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N6M0
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA)
- Note
- DescriptionAn 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.
- See alsoMIM:617452
Natural variants in IDDFSDA
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080403 | 145-293 | missing | in IDDFSDA; dbSNP:rs368313959 | |
VAR_080404 | 186 | Y>C | in IDDFSDA; uncertain significance; dbSNP:rs1064797103 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_080403 | 145-293 | in IDDFSDA; dbSNP:rs368313959 | |||
Sequence: Missing | ||||||
Mutagenesis | 158 | Abolishes the deubiquitinating enzyme activity. | ||||
Sequence: C → S | ||||||
Natural variant | VAR_080404 | 186 | in IDDFSDA; uncertain significance; dbSNP:rs1064797103 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_034144 | 283 | in dbSNP:rs3210518 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 388 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for modified residue, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Modified residue | 1 | UniProt | N-acetylmethionine | ||||
Sequence: M | |||||||
Chain | PRO_0000076279 | 1-293 | UniProt | Deubiquitinase OTUD6B | |||
Sequence: MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEMEQKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRREKKAALEKEREERIAEAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALRSQTAEYMQSHVEDFLPFLTNPNTGDMYTPEEFQKYCEDIVNTAAWGGQLELRALSHILQTPIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRLVNIVTENCS | |||||||
Modified residue (large scale data) | 272 | PRIDE | Phosphotyrosine | ||||
Sequence: Y |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with the eukaryotic translation initiation factor 4F complex.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8N6M0 | BTBD1 Q9H0C5 | 4 | EBI-2510892, EBI-935503 | |
BINARY | Q8N6M0 | OTUB1 Q96FW1 | 2 | EBI-2510892, EBI-1058491 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 147-284 | OTU | ||||
Sequence: LEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALRSQTAEYMQSHVEDFLPFLTNPNTGDMYTPEEFQKYCEDIVNTAAWGGQLELRALSHILQTPIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRL | ||||||
Region | 152-158 | Cys-loop | ||||
Sequence: IPSDGHC | ||||||
Region | 219-229 | Variable-loop | ||||
Sequence: IVNTAAWGGQL | ||||||
Region | 267-277 | His-loop | ||||
Sequence: YMRHAYGLGEH |
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q8N6M0-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsOTUD6B-1
- Length293
- Mass (Da)33,813
- Last updated2002-10-01 v1
- Checksum468DB88E2637D869
Q8N6M0-2
- Name2
- SynonymsOTUD6B-2
- Differences from canonical
- 1-105: MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEMEQKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRR → MISK
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A0C4DH76 | A0A0C4DH76_HUMAN | OTUD6B | 108 | ||
A0A087X0W9 | A0A087X0W9_HUMAN | OTUD6B | 323 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_055378 | 1-105 | in isoform 2 | |||
Sequence: MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEMEQKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRR → MISK | ||||||
Sequence conflict | 285-293 | in Ref. 1; AAD34073 | ||||
Sequence: VNIVTENCS → GKHSY |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF151836 EMBL· GenBank· DDBJ | AAD34073.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291646 EMBL· GenBank· DDBJ | BAF84335.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293843 EMBL· GenBank· DDBJ | BAG57241.1 EMBL· GenBank· DDBJ | mRNA | ||
AC087439 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC029760 EMBL· GenBank· DDBJ | AAH29760.1 EMBL· GenBank· DDBJ | mRNA | ||
AL137441 EMBL· GenBank· DDBJ | CAB70738.1 EMBL· GenBank· DDBJ | mRNA |