Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23252
Gene name Gene Name - the full gene name approved by the HGNC.
OTU deubiquitinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OTUD3
Synonyms (NCBI Gene) Gene synonyms aliases
DUBA4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026967 hsa-miR-192-5p Microarray 19074876
MIRT717221 hsa-miR-4803 HITS-CLIP 19536157
MIRT717220 hsa-miR-216a-5p HITS-CLIP 19536157
MIRT717219 hsa-miR-379-3p HITS-CLIP 19536157
MIRT717218 hsa-miR-411-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 23827681, 26280536, 32011234, 35675826
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IMP 26280536
GO:0004843 Function Cysteine-type deubiquitinase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611758 29038 ENSG00000169914
Protein
UniProt ID Q5T2D3
Protein name OTU domain-containing protein 3 (EC 3.4.19.12)
Protein function Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys-11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains (PubMed:23827681, PubMed:32011234, PubMed:35675826). Important regulator of energy metaboli
PDB 4BOU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02338 OTU 71 185 OTU-like cysteine protease Family
Sequence
MSRKQAAKSRPGSGSRKAEAERKRDERAARRALAKERRNRPESGGGGGCEEEFVSFANQL
QALGLKLREVPGDGNCLFRALGDQLEGHSRNHLKHRQETVDYMIKQREDFEPFVEDDIPF
EKHVASLAKPGTFAGNDAIVAFARNHQLNVVIHQLNAPLWQIRGTEKSSVRELHIAYRYG
EHYDS
VRRINDNSEAPAHLQTDFQMLHQDESNKREKIKTKGMDSEDDLRDEVEDAVQKVC
NATGCSDFNLIVQNLEAENYNIESAIIAVLRMNQGKRNNAEENLEPSGRVLKQCGPLWEE
GGSGARIFGNQGLNEGRTENNKAQASPSEENKANKNQLAKVTNKQRREQQWMEKKKRQEE
RHRHKALESRGSHRDNNRSEAEANTQVTLVKTFAALNI
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ovarian tumor domain proteases
Regulation of PTEN stability and activity
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Inflammatory Bowel Disease Inflammatory bowel disease, Inflammatory bowel disease (MTAG) N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 32571254, 32775453
Diabetes Mellitus Associate 36531510
Diabetic Retinopathy Associate 36531510
Inflammatory Bowel Diseases Associate 34758847
Kidney Diseases Associate 36531510
Leukemia Associate 34815255
Lung Neoplasms Associate 34815255
Neoplasms Inhibit 32571254
Uveal melanoma Associate 38246894