Aliases for OTUD3 Gene

Aliases for OTUD3 Gene

  • OTU Deubiquitinase 3 2 3 5
  • OTU Domain-Containing Protein 3 3 4
  • OTU Domain Containing 3 2 3
  • KIAA0459 2 4
  • DUBA4 2 3
  • EC 4
  • OTUD3 5

External Ids for OTUD3 Gene

Previous GeneCards Identifiers for OTUD3 Gene

  • GC01P019977
  • GC01P020081
  • GC01P020208
  • GC01P018454

Summaries for OTUD3 Gene

GeneCards Summary for OTUD3 Gene

OTUD3 (OTU Deubiquitinase 3) is a Protein Coding gene. Diseases associated with OTUD3 include Dysbaric Osteonecrosis and Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy. Among its related pathways are Protein ubiquitination and Deubiquitination. Gene Ontology (GO) annotations related to this gene include thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTUD4.

UniProtKB/Swiss-Prot Summary for OTUD3 Gene

  • Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys-11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTUD3 Gene

Genomics for OTUD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OTUD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTUD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTUD3

Top Transcription factor binding sites by QIAGEN in the OTUD3 gene promoter:
  • AP-2rep
  • CUTL1
  • Elk-1
  • Evi-1
  • GATA-1
  • GATA-2
  • GATA-3
  • Pax-5
  • S8
  • STAT1

Genomic Locations for OTUD3 Gene

Latest Assembly
31,238 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
30,551 bases
Plus strand

(GRCh37/hg19 by Ensembl)
30,433 bases
Plus strand

Genomic View for OTUD3 Gene

Genes around OTUD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTUD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTUD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTUD3 Gene

Proteins for OTUD3 Gene

  • Protein details for OTUD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    OTU domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • O75047

    Protein attributes for OTUD3 Gene

    398 amino acids
    Molecular mass:
    45124 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA32304.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OTUD3 Gene

neXtProt entry for OTUD3 Gene

Post-translational modifications for OTUD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTUD3 Gene

No data available for DME Specific Peptides for OTUD3 Gene

Domains & Families for OTUD3 Gene

Gene Families for OTUD3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for OTUD3 Gene

Suggested Antigen Peptide Sequences for OTUD3 Gene

GenScript: Design optimal peptide antigens:
  • OTU domain-containing protein 3 (OTUD3_HUMAN)
  • OTUD3 protein (Q0VDK5_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • The UBA-like domain has no influence on ubiquitin hydrolysis.
  • The UBA-like domain has no influence on ubiquitin hydrolysis.
  • Specificity is given by the S1' ubiquitin-binding site within the OTU domain composed of the Cys-, His- and Variable-loops.
genes like me logo Genes that share domains with OTUD3: view

Function for OTUD3 Gene

Molecular function for OTUD3 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys-11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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).; EC=; Evidence={ECO:0000269|PubMed:23827681};.

Enzyme Numbers (IUBMB) for OTUD3 Gene

Phenotypes From GWAS Catalog for OTUD3 Gene

Gene Ontology (GO) - Molecular Function for OTUD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IMP 26280536
GO:0005515 protein binding IPI 26280536
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with OTUD3: view
genes like me logo Genes that share phenotypes with OTUD3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTUD3

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OTUD3 Gene

Localization for OTUD3 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTUD3 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OTUD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 26280536
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with OTUD3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for OTUD3 Gene

Pathways & Interactions for OTUD3 Gene

genes like me logo Genes that share pathways with OTUD3: view

Pathways by source for OTUD3 Gene

Gene Ontology (GO) - Biological Process for OTUD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination IBA,TAS --
GO:0018215 protein phosphopantetheinylation IEA --
GO:0035871 protein K11-linked deubiquitination IBA,IDA 23827681
GO:0044313 protein K6-linked deubiquitination IDA 23827681
genes like me logo Genes that share ontologies with OTUD3: view

No data available for SIGNOR curated interactions for OTUD3 Gene

Drugs & Compounds for OTUD3 Gene

No Compound Related Data Available

Transcripts for OTUD3 Gene

mRNA/cDNA for OTUD3 Gene

5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTUD3

Alternative Splicing Database (ASD) splice patterns (SP) for OTUD3 Gene

No ASD Table

Relevant External Links for OTUD3 Gene

GeneLoc Exon Structure for

Expression for OTUD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OTUD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for OTUD3 Gene

This gene is overexpressed in Testis (35.0) and Adipocyte (31.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OTUD3 Gene

Protein tissue co-expression partners for OTUD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTUD3

SOURCE GeneReport for Unigene cluster for OTUD3 Gene:


Evidence on tissue expression from TISSUES for OTUD3 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with OTUD3: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTUD3 Gene

Orthologs for OTUD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTUD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OTUD3 29 30
  • 99.25 (n)
(Canis familiaris)
Mammalia OTUD3 29 30
  • 91.96 (n)
(Bos Taurus)
Mammalia OTUD3 29 30
  • 90.26 (n)
(Mus musculus)
Mammalia Otud3 29 16 30
  • 84.43 (n)
(Rattus norvegicus)
Mammalia Otud3 29
  • 84.23 (n)
(Monodelphis domestica)
Mammalia -- 30
  • 83 (a)
-- 30
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 79 (a)
-- 30
  • 67 (a)
(Gallus gallus)
Aves OTUD3 29 30
  • 69.06 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia otud3 29
  • 64.84 (n)
(Danio rerio)
Actinopterygii otud3 29 30
  • 58.82 (n)
Species where no ortholog for OTUD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for OTUD3 Gene

Gene Tree for OTUD3 (if available)
Gene Tree for OTUD3 (if available)
Evolutionary constrained regions (ECRs) for OTUD3: view image
Alliance of Genome Resources:
Additional Orthologs for OTUD3

Paralogs for OTUD3 Gene

Paralogs for OTUD3 Gene

genes like me logo Genes that share paralogs with OTUD3: view

Variants for OTUD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTUD3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10916668 -- p.Ala333Thr
rs2298110 -- p.Asn321Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTUD3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OTUD3 Gene

Variant ID Type Subtype PubMed ID
nsv1003518 CNV loss 25217958
nsv460717 CNV loss 19166990
nsv545730 CNV loss 21841781

Variation tolerance for OTUD3 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTUD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTUD3 Gene

Disorders for OTUD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OTUD3 Gene - From: COP

Disorder Aliases PubMed IDs
dysbaric osteonecrosis
  • caisson disease of bone
autosomal dominant adult-onset proximal spinal muscular atrophy
  • autosomal dominant adult proximal spinal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search OTUD3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OTUD3

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OTUD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OTUD3 Gene

Publications for OTUD3 Gene

  1. OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis. (PMID: 23827681) Mevissen TE … Komander D (Cell 2013) 2 3 4
  2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PMID: 20228799) McGovern DP … Seielstad M (Nature genetics 2010) 3 40
  4. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). (PMID: 20228798) Franke A … Schreiber S (Nature genetics 2010) 3 40
  5. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (PMID: 19122664) Silverberg MS … Duerr RH (Nature genetics 2009) 3 40

Products for OTUD3 Gene

Sources for OTUD3 Gene