OTUD6B

Protein identityUniProt · HPA

UniProt accession

Q8N6M0

Gene

OTUD6B

Ensembl

ENSG00000155100

Chromosome

8

Canonical length

293 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]

Canonical amino-acid sequenceUniProt

293 residues, UniProt reviewed canonical sequence.

>Q8N6M0|OTUD6B
     1  MEAVLTEELD EEEQLLRRHR KEKKELQAKI QGMKNAVPKN DKKRRKQLTE DVAKLEKEME
    61  QKHREELEQL KLTTKENKID SVAVNISNLV LENQPPRISK AQKRREKKAA LEKEREERIA
   121  EAEIENLTGA RHMESEKLAQ ILAARQLEIK QIPSDGHCMY KAIEDQLKEK DCALTVVALR
   181  SQTAEYMQSH VEDFLPFLTN PNTGDMYTPE EFQKYCEDIV NTAAWGGQLE LRALSHILQT
   241  PIEIIQADSP PIIVGEEYSK KPLILVYMRH AYGLGEHYNS VTRLVNIVTE NCS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTUD6B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

9.6 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTUD6B.

Disease | AllUniProt

Conditions OTUD6B is implicated in, by any mechanism.

• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) MIM:617452

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 111 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
• Epilepsy
• Dysmorphic features
• Intellectual disability
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.32

gnomAD pLI

0

gnomAD missense Z

0.3

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell population proliferation
• negative regulation of translation
• positive regulation of translation
• proteasome assembly
• protein deubiquitination
• proteolysis

Molecular functions

• cysteine-type deubiquitinase activity

Protein domainsUniProt · Pfam · InterPro

• OTU domain
• Papain-like cysteine peptidase superfamily
• OTU domain-containing protein 6A/6B, ovarian tumor domain
• Peptidase C85-like
• OTU-like cysteine protease

KeywordsUniProt

• Acetylation
• Epilepsy
• Hydrolase
• Intellectual disability
• Protease
• Thiol protease
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of OTUD6B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• OTUB1