Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] See more...

Aliases for OTUD1 Gene

Aliases for OTUD1 Gene

  • OTU Deubiquitinase 1 2 3 5
  • OTU Domain-Containing Protein 1 3 4
  • OTU Domain Containing 1 2 3
  • DUBA-7 3 4
  • OTDC1 3 4
  • DUBA7 3 4
  • EC 3.4.19.12 4

External Ids for OTUD1 Gene

Previous HGNC Symbols for OTUD1 Gene

  • OTDC1

Previous GeneCards Identifiers for OTUD1 Gene

  • GC10P023693
  • GC10P023768
  • GC10P023389
  • GC10P023728

Summaries for OTUD1 Gene

Entrez Gene Summary for OTUD1 Gene

  • Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]

GeneCards Summary for OTUD1 Gene

OTUD1 (OTU Deubiquitinase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTUD5.

UniProtKB/Swiss-Prot Summary for OTUD1 Gene

  • Deubiquitinating enzyme that specifically hydrolyzes 'Lys-63'-linked polyubiquitin to monoubiquitin.

Additional gene information for OTUD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTUD1 Gene

Genomics for OTUD1 Gene

GeneHancer (GH) Regulatory Elements for OTUD1 Gene

Promoters and enhancers for OTUD1 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 OTUD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OTUD1 gene promoter:
  • AP-4
  • C/EBPbeta
  • CREB
  • E2F
  • E2F-1
  • Elk-1
  • FOXI1
  • HFH-3
  • S8
  • TBP

Genomic Locations for OTUD1 Gene

Genomic Locations for OTUD1 Gene
chr10:23,439,269-23,442,390
(GRCh38/hg38)
Size:
3,122 bases
Orientation:
Plus strand
chr10:23,728,198-23,731,310
(GRCh37/hg19)
Size:
3,113 bases
Orientation:
Plus strand

Genomic View for OTUD1 Gene

Genes around OTUD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTUD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTUD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTUD1 Gene

Proteins for OTUD1 Gene

  • Protein details for OTUD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VV17-OTUD1_HUMAN
    Recommended name:
    OTU domain-containing protein 1
    Protein Accession:
    Q5VV17

    Protein attributes for OTUD1 Gene

    Size:
    481 amino acids
    Molecular mass:
    51063 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OTUD1 Gene

neXtProt entry for OTUD1 Gene

Post-translational modifications for OTUD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTUD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTUD1 Gene

Domains & Families for OTUD1 Gene

Gene Families for OTUD1 Gene

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

Protein Domains for OTUD1 Gene

Suggested Antigen Peptide Sequences for OTUD1 Gene

GenScript: Design optimal peptide antigens:
  • DUBA-7 (OTUD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VV17

UniProtKB/Swiss-Prot:

OTUD1_HUMAN :
  • The UIM repeat increases the specificity and efficiency of the enzyme toward 'Lys-63'-linked polyubiquitin.
Domain:
  • The UIM repeat increases the specificity and efficiency of the enzyme toward 'Lys-63'-linked polyubiquitin.
  • Specificity is not 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 OTUD1: view

Function for OTUD1 Gene

Molecular function for OTUD1 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that specifically hydrolyzes 'Lys-63'-linked polyubiquitin to monoubiquitin.
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=3.4.19.12; Evidence=. ;.

Enzyme Numbers (IUBMB) for OTUD1 Gene

Phenotypes From GWAS Catalog for OTUD1 Gene

Gene Ontology (GO) - Molecular Function for OTUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 23827681
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with OTUD1: view
genes like me logo Genes that share phenotypes with OTUD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for OTUD1

CRISPR Products

Clone Products

  • Addgene plasmids for OTUD1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OTUD1 Gene

Localization for OTUD1 Gene

Subcellular locations from

COMPARTMENTS
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 OTUD1 gene
Compartment Confidence
cytosol 3
nucleus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for OTUD1 Gene

Pathways & Interactions for OTUD1 Gene

PathCards logo

SuperPathways for OTUD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OTUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination IBA 21873635
GO:0070536 protein K63-linked deubiquitination IDA,IBA 23827681
genes like me logo Genes that share ontologies with OTUD1: view

No data available for Pathways by source and SIGNOR curated interactions for OTUD1 Gene

Drugs & Compounds for OTUD1 Gene

No Compound Related Data Available

Transcripts for OTUD1 Gene

mRNA/cDNA for OTUD1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(89) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for OTUD1

Alternative Splicing Database (ASD) splice patterns (SP) for OTUD1 Gene

No ASD Table

Relevant External Links for OTUD1 Gene

GeneLoc Exon Structure for
OTUD1
ECgene alternative splicing isoforms for
OTUD1

Expression for OTUD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OTUD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OTUD1 Gene

This gene is overexpressed in Plasma (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OTUD1 Gene



Protein tissue co-expression partners for OTUD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of OTUD1 Gene:

OTUD1

SOURCE GeneReport for Unigene cluster for OTUD1 Gene:

Hs.499042
genes like me logo Genes that share expression patterns with OTUD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTUD1 Gene

Orthologs for OTUD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTUD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OTUD1 33 32
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OTUD1 33
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTUD1 33 32
  • 86.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Otud1 17 33 32
  • 81.95 (n)
rat
(Rattus norvegicus)
Mammalia Otud1 32
  • 81.17 (n)
oppossum
(Monodelphis domestica)
Mammalia OTUD1 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTUD1 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTUD1 33 32
  • 73.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTUD1 33
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10971 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.4971 32
zebrafish
(Danio rerio)
Actinopterygii Dr.17111 32
Species where no ortholog for OTUD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 squirt (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 OTUD1 Gene

ENSEMBL:
Gene Tree for OTUD1 (if available)
TreeFam:
Gene Tree for OTUD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTUD1: view image

Paralogs for OTUD1 Gene

Paralogs for OTUD1 Gene

Pseudogenes.org Pseudogenes for OTUD1 Gene

genes like me logo Genes that share paralogs with OTUD1: view

Variants for OTUD1 Gene

Sequence variations from dbSNP and Humsavar for OTUD1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000356051 -- 23,442,014(+) C/T 3_prime_UTR_variant
rs1000744107 -- 23,441,211(+) C/A 3_prime_UTR_variant
rs1001691884 -- 23,438,424(+) C/T upstream_transcript_variant
rs1002021735 -- 23,442,762(+) T/A downstream_transcript_variant
rs1002642445 -- 23,439,058(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OTUD1 Gene

Variant ID Type Subtype PubMed ID
esv3432719 CNV insertion 20981092
nsv1068294 CNV deletion 25765185
nsv1136113 CNV deletion 24896259
nsv825305 CNV gain 20364138

Variation tolerance for OTUD1 Gene

Gene Damage Index Score: 1.70; 32.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTUD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTUD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTUD1 Gene

Disorders for OTUD1 Gene

Additional Disease Information for OTUD1

No disorders were found for OTUD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OTUD1 Gene

Publications for OTUD1 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 56
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 56
  3. Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability. (PMID: 29576527) Kwasna D … Kulathu Y (Molecular cell 2018) 3 56
  4. SKP2- and OTUD1-regulated non-proteolytic ubiquitination of YAP promotes YAP nuclear localization and activity. (PMID: 29891922) Yao F … Ma L (Nature communications 2018) 3 56
  5. Mutations of deubiquitinase OTUD1 are associated with autoimmune disorders. (PMID: 30100102) Lu D … Yin Y (Journal of autoimmunity 2018) 3 56

Products for OTUD1 Gene

Sources for OTUD1 Gene