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Protein

Deubiquitinase OTUD6B

Gene

OTUD6B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).3 Publications
Isoform 2: Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability.1 Publication

Caution

Initially, no deubiquitinase activity could be detected when tested (PubMed:23827681). Other studies, show an obvious deubiquitinase activity (PubMed:21267069, PubMed:28343629, PubMed:27864334).4 Publications

Catalytic activityi

Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei155By similarity1
Active sitei158Nucleophile1 Publication1
Active sitei277By similarity1

GO - Molecular functioni

  • thiol-dependent ubiquitinyl hydrolase activity Source: UniProtKB

GO - Biological processi

  • cell proliferation Source: UniProtKB
  • negative regulation of translation Source: UniProtKB
  • positive regulation of translation Source: UniProtKB
  • proteasome assembly Source: UniProtKB
  • protein deubiquitination Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Protease, Thiol protease
Biological processUbl conjugation pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Deubiquitinase OTUD6BCurated (EC:3.4.19.121 Publication)
Alternative name(s):
DUBA-5
OTU domain-containing protein 6BImported
Gene namesi
Name:OTUD6BImported
Synonyms:DUBA5
ORF Names:CGI-771 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000155100.10
HGNCiHGNC:24281 OTUD6B
MIMi612021 gene
neXtProtiNX_Q8N6M0

Pathology & Biotechi

Involvement in diseasei

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:617452
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080403145 – 293Missing in IDDFSDA. 1 PublicationCorresponds to variant dbSNP:rs368313959Add BLAST149
Natural variantiVAR_080404186Y → C in IDDFSDA; unknown pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi158C → S: Abolishes the deubiquitinating enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MalaCardsiOTUD6B
MIMi617452 phenotype
OpenTargetsiENSG00000155100
PharmGKBiPA142671219

Polymorphism and mutation databases

BioMutaiOTUD6B
DMDMi74729149

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000762791 – 293Deubiquitinase OTUD6BAdd BLAST293

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8N6M0
MaxQBiQ8N6M0
PaxDbiQ8N6M0
PeptideAtlasiQ8N6M0
PRIDEiQ8N6M0

PTM databases

iPTMnetiQ8N6M0
PhosphoSitePlusiQ8N6M0

Expressioni

Gene expression databases

BgeeiENSG00000155100
CleanExiHS_OTUD6B
ExpressionAtlasiQ8N6M0 baseline and differential
GenevisibleiQ8N6M0 HS

Organism-specific databases

HPAiHPA024046
HPA024503
HPA024772

Interactioni

Subunit structurei

Interacts with the eukaryotic translation initiation factor 4F complex.1 Publication

Protein-protein interaction databases

BioGridi119647, 32 interactors
IntActiQ8N6M0, 13 interactors
STRINGi9606.ENSP00000285420

Structurei

3D structure databases

ProteinModelPortaliQ8N6M0
SMRiQ8N6M0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini147 – 284OTUPROSITE-ProRule annotationAdd BLAST138

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni152 – 158Cys-loopBy similarity7
Regioni219 – 229Variable-loopBy similarityAdd BLAST11
Regioni267 – 277His-loopBy similarityAdd BLAST11

Phylogenomic databases

eggNOGiKOG2606 Eukaryota
COG5539 LUCA
GeneTreeiENSGT00390000012840
HOGENOMiHOG000192906
HOVERGENiHBG080227
InParanoidiQ8N6M0
KOiK18342
PhylomeDBiQ8N6M0
TreeFamiTF315010

Family and domain databases

InterProiView protein in InterPro
IPR003323 OTU_dom
PfamiView protein in Pfam
PF02338 OTU, 1 hit
PROSITEiView protein in PROSITE
PS50802 OTU, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N6M0-1) [UniParc]FASTAAdd to basket
Also known as: OTUD6B-11 Publication

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.

« Hide

        10         20         30         40         50
MEAVLTEELD EEEQLLRRHR KEKKELQAKI QGMKNAVPKN DKKRRKQLTE
60 70 80 90 100
DVAKLEKEME QKHREELEQL KLTTKENKID SVAVNISNLV LENQPPRISK
110 120 130 140 150
AQKRREKKAA LEKEREERIA EAEIENLTGA RHMESEKLAQ ILAARQLEIK
160 170 180 190 200
QIPSDGHCMY KAIEDQLKEK DCALTVVALR SQTAEYMQSH VEDFLPFLTN
210 220 230 240 250
PNTGDMYTPE EFQKYCEDIV NTAAWGGQLE LRALSHILQT PIEIIQADSP
260 270 280 290
PIIVGEEYSK KPLILVYMRH AYGLGEHYNS VTRLVNIVTE NCS
Length:293
Mass (Da):33,813
Last modified:October 1, 2002 - v1
Checksum:i468DB88E2637D869
GO
Isoform 2 (identifier: Q8N6M0-2) [UniParc]FASTAAdd to basket
Also known as: OTUD6B-21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: MEAVLTEELD...PRISKAQKRR → MISK

Show »
Length:192
Mass (Da):21,809
Checksum:iDB3F389CEE3BEB3E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti285 – 293VNIVTENCS → GKHSY in AAD34073 (PubMed:10810093).Curated9

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080403145 – 293Missing in IDDFSDA. 1 PublicationCorresponds to variant dbSNP:rs368313959Add BLAST149
Natural variantiVAR_080404186Y → C in IDDFSDA; unknown pathological significance. 1 Publication1
Natural variantiVAR_034144283R → Q1 PublicationCorresponds to variant dbSNP:rs3210518Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0553781 – 105MEAVL…AQKRR → MISK in isoform 2. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151836 mRNA Translation: AAD34073.1
AK291646 mRNA Translation: BAF84335.1
AK293843 mRNA Translation: BAG57241.1
AC087439 Genomic DNA No translation available.
BC029760 mRNA Translation: AAH29760.1
AL137441 mRNA Translation: CAB70738.1
CCDSiCCDS69513.1 [Q8N6M0-2]
PIRiT46264
RefSeqiNP_001273674.1, NM_001286745.1 [Q8N6M0-2]
NP_057107.3, NM_016023.3
XP_011515431.2, XM_011517129.2 [Q8N6M0-2]
UniGeneiHs.30532

Genome annotation databases

EnsembliENST00000404789; ENSP00000384190; ENSG00000155100 [Q8N6M0-1]
ENST00000615618; ENSP00000481196; ENSG00000155100 [Q8N6M0-2]
GeneIDi51633
KEGGihsa:51633
UCSCiuc011lgh.3 human [Q8N6M0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiOTU6B_HUMAN
AccessioniPrimary (citable) accession number: Q8N6M0
Secondary accession number(s): A8K6I1
, B4DEY0, Q9NTA4, Q9Y387
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 113 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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