Gene Gene information from NCBI Gene database.
Entrez ID 23252
Gene name OTU deubiquitinase 3
Gene symbol OTUD3
Synonyms (NCBI Gene)
DUBA4
Chromosome 1
Chromosome location 1p36.13
miRNA miRNA information provided by mirtarbase database.
682
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611758 29038 ENSG00000169914
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31266968
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31266968
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32571254, 32775453 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31266968
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31338872
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 36531510 Associate
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 36531510 Associate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 34758847 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 36531510 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 34815255 Associate
★☆☆☆☆
Found in Text Mining only