Gene Gene information from NCBI Gene database.
Entrez ID 220213
Gene name OTU deubiquitinase 1
Gene symbol OTUD1
Synonyms (NCBI Gene)
DUBA7OTDC1
Chromosome 10
Chromosome location 10p12.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
244
miRTarBase ID miRNA Experiments Reference
MIRT019208 hsa-miR-335-5p Microarray 18185580
MIRT019636 hsa-miR-340-5p Sequencing 20371350
MIRT025128 hsa-miR-181a-5p Microarray 17612493
MIRT026901 hsa-miR-192-5p Microarray 19074876
MIRT031292 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 23827681, 36445135
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 38012669
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612022 27346 ENSG00000165312
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VV17
Protein name OTU domain-containing protein 1 (EC 3.4.19.12) (DUBA-7)
Protein function Deubiquitinating enzyme that specifically hydrolyzes 'Lys-63'-linked polyubiquitin to monoubiquitin (PubMed:23827681). Required for the stability and translation of a subset mRNAs with a high abundance of rare codons by mediating deubiquitinatio
PDB 4BOP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02338 OTU 315 433 OTU-like cysteine protease Family
Sequence
MQLYSSVCTHYPAGAPGPTAAAPAPPAAATPFKVSLQPPGAAGAAPEPETGECQPAAAAE
HREAAAVPAAKMPAFSSCFEVVSGAAAPASAAAGPPGASCKPPLPPHYTSTAQITVRALG
ADRLLLHGPDPVPGAAGSAAAPRGRCLLLAPAPAAPVPPRRGSSAWLLEELLRPDCPEPA
GLDATREGPDRNFRLSEHRQALAAAKHRGPAATPGSPDPGPGPWGEEHLAERGPRGWERG
GDRCDAPGGDAARRPDPEAEAPPAGSIEAAPSSAAEPVIVSRSDPRDEKLALYLAEVEKQ
DKYLRQRNKYRFHIIPDGNCLYRAVSKTVYGDQSLHRELREQTVHYIADHLDHFSPLIEG
DVGEFIIAAAQDGAWAGYPELLAMGQMLNVNIHLTTGGRLESPTVSTMIHYLGPEDSLRP
SIWLSWLSNGHYD
AVFDHSYPNPEYDNWCKQTQVQRKRDEELAKSMAISLSKMYIEQNAC
S
Sequence length 481
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
OTUD1-related disorder Uncertain significance; Benign; Likely benign rs772000715, rs147006133, rs928035411, rs777457042, rs115994850, rs978602029, rs1384127775, rs139969083, rs574869227, rs1029302545, rs74122449, rs148315007 RCV003906622
RCV003916887
RCV003934071
RCV003943916
RCV003941576
RCV003941625
RCV003937283
RCV003932305
RCV003936971
RCV003976918
RCV003915921
RCV003978281
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Inhibit 35098684
Multiple Myeloma Associate 36357400
Multiple Sclerosis Associate 39201568
Neoplasms Associate 24937664, 30008265, 36357400, 37872170
Sarcoidosis Associate 22972473
Thyroid Neoplasms Associate 24937664
Thyroid Nodule Associate 24937664