OTUD1 (OTU deubiquitinase 1)

Gene

• Entrez ID: 220213
• Gene name: OTU deubiquitinase 1
• Gene symbol: OTUD1
• Synonyms (NCBI Gene): DUBA7, OTDC1
• 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

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
MIRT050474	hsa-miR-21-5p	CLASH	23622248
MIRT044547	hsa-miR-320a	CLASH	23622248
MIRT039378	hsa-miR-421	CLASH	23622248
MIRT230382	hsa-miR-506-3p	PAR-CLIP	20371350
MIRT230381	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT230381	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT056155	hsa-miR-543	PAR-CLIP	20371350
MIRT230383	hsa-miR-3714	PAR-CLIP	20371350
MIRT230384	hsa-miR-3910	PAR-CLIP	20371350
MIRT025128	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT056150	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT056151	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT056152	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT056158	hsa-miR-4262	PAR-CLIP	20371350
MIRT056179	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT056156	hsa-miR-4251	PAR-CLIP	20371350
MIRT566578	hsa-miR-4329	PAR-CLIP	20371350
MIRT566577	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT056153	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT126502	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT056174	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031292	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT262152	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT262153	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT230382	hsa-miR-506-3p	PAR-CLIP	20371350
MIRT230381	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT230381	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT056155	hsa-miR-543	PAR-CLIP	20371350
MIRT230383	hsa-miR-3714	PAR-CLIP	20371350
MIRT230384	hsa-miR-3910	PAR-CLIP	20371350
MIRT025128	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT056150	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT056151	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT056152	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT056158	hsa-miR-4262	PAR-CLIP	20371350
MIRT056179	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT056156	hsa-miR-4251	PAR-CLIP	20371350
MIRT566578	hsa-miR-4329	PAR-CLIP	20371350
MIRT566577	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT056153	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT126502	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT1207391	hsa-miR-106a	CLIP-seq
MIRT1207392	hsa-miR-106b	CLIP-seq
MIRT1207393	hsa-miR-1178	CLIP-seq
MIRT1207394	hsa-miR-1256	CLIP-seq
MIRT1207395	hsa-miR-1283	CLIP-seq
MIRT1207396	hsa-miR-1297	CLIP-seq
MIRT1207397	hsa-miR-1298	CLIP-seq
MIRT1207398	hsa-miR-155	CLIP-seq
MIRT1207399	hsa-miR-17	CLIP-seq
MIRT1207400	hsa-miR-20a	CLIP-seq
MIRT1207401	hsa-miR-20b	CLIP-seq
MIRT1207402	hsa-miR-26a	CLIP-seq
MIRT1207403	hsa-miR-26b	CLIP-seq
MIRT1207404	hsa-miR-300	CLIP-seq
MIRT1207405	hsa-miR-302a	CLIP-seq
MIRT1207406	hsa-miR-302b	CLIP-seq
MIRT1207407	hsa-miR-302c	CLIP-seq
MIRT1207408	hsa-miR-302d	CLIP-seq
MIRT1207409	hsa-miR-302e	CLIP-seq
MIRT1207410	hsa-miR-3074-3p	CLIP-seq
MIRT1207411	hsa-miR-320b	CLIP-seq
MIRT1207412	hsa-miR-320c	CLIP-seq
MIRT1207413	hsa-miR-320d	CLIP-seq
MIRT1207414	hsa-miR-33a	CLIP-seq
MIRT1207415	hsa-miR-33b	CLIP-seq
MIRT1207416	hsa-miR-361-5p	CLIP-seq
MIRT1207417	hsa-miR-372	CLIP-seq
MIRT1207418	hsa-miR-373	CLIP-seq
MIRT1207419	hsa-miR-381	CLIP-seq
MIRT1207420	hsa-miR-382	CLIP-seq
MIRT1207421	hsa-miR-3978	CLIP-seq
MIRT1207422	hsa-miR-4261	CLIP-seq
MIRT1207423	hsa-miR-4429	CLIP-seq
MIRT1207424	hsa-miR-4465	CLIP-seq
MIRT1207425	hsa-miR-4494	CLIP-seq
MIRT1207426	hsa-miR-450b-5p	CLIP-seq
MIRT1207427	hsa-miR-451b	CLIP-seq
MIRT1207428	hsa-miR-4694-3p	CLIP-seq
MIRT1207429	hsa-miR-4698	CLIP-seq
MIRT1207430	hsa-miR-4727-5p	CLIP-seq
MIRT1207431	hsa-miR-4766-5p	CLIP-seq
MIRT1207432	hsa-miR-4769-3p	CLIP-seq
MIRT1207433	hsa-miR-4775	CLIP-seq
MIRT1207434	hsa-miR-488	CLIP-seq
MIRT1207435	hsa-miR-494	CLIP-seq
MIRT1207436	hsa-miR-499-3p	CLIP-seq
MIRT1207437	hsa-miR-499a-3p	CLIP-seq
MIRT1207438	hsa-miR-499a-5p	CLIP-seq
MIRT1207439	hsa-miR-507	CLIP-seq
MIRT1207440	hsa-miR-519d	CLIP-seq
MIRT1207441	hsa-miR-520a-3p	CLIP-seq
MIRT1207442	hsa-miR-520b	CLIP-seq
MIRT1207443	hsa-miR-520c-3p	CLIP-seq
MIRT1207444	hsa-miR-520d-3p	CLIP-seq
MIRT1207445	hsa-miR-520e	CLIP-seq
MIRT1207446	hsa-miR-545	CLIP-seq
MIRT1207447	hsa-miR-548aa	CLIP-seq
MIRT1207448	hsa-miR-548ac	CLIP-seq
MIRT1207449	hsa-miR-548ae	CLIP-seq
MIRT1207450	hsa-miR-548aj	CLIP-seq
MIRT1207451	hsa-miR-548am	CLIP-seq
MIRT1207452	hsa-miR-548an	CLIP-seq
MIRT1207453	hsa-miR-548d-3p	CLIP-seq
MIRT1207454	hsa-miR-548l	CLIP-seq
MIRT1207455	hsa-miR-548n	CLIP-seq
MIRT1207456	hsa-miR-548t	CLIP-seq
MIRT1207457	hsa-miR-548x	CLIP-seq
MIRT1207458	hsa-miR-548z	CLIP-seq
MIRT1207459	hsa-miR-556-3p	CLIP-seq
MIRT1207460	hsa-miR-557	CLIP-seq
MIRT1207461	hsa-miR-590-3p	CLIP-seq
MIRT1207462	hsa-miR-664	CLIP-seq
MIRT1207463	hsa-miR-93	CLIP-seq
MIRT1207397	hsa-miR-1298	CLIP-seq
MIRT1207393	hsa-miR-1178	CLIP-seq
MIRT2059615	hsa-miR-1207-3p	CLIP-seq
MIRT2059616	hsa-miR-124	CLIP-seq
MIRT1207395	hsa-miR-1283	CLIP-seq
MIRT1207397	hsa-miR-1298	CLIP-seq
MIRT2059617	hsa-miR-142-5p	CLIP-seq
MIRT1207398	hsa-miR-155	CLIP-seq
MIRT2059618	hsa-miR-2964a-3p	CLIP-seq
MIRT2059619	hsa-miR-29a	CLIP-seq
MIRT2059620	hsa-miR-29b	CLIP-seq
MIRT2059621	hsa-miR-29c	CLIP-seq
MIRT2059622	hsa-miR-302f	CLIP-seq
MIRT2059623	hsa-miR-3120-3p	CLIP-seq
MIRT2059624	hsa-miR-3121-3p	CLIP-seq
MIRT2059625	hsa-miR-3143	CLIP-seq
MIRT2059626	hsa-miR-340	CLIP-seq
MIRT2059627	hsa-miR-3663-3p	CLIP-seq
MIRT2059628	hsa-miR-3685	CLIP-seq
MIRT2059629	hsa-miR-4274	CLIP-seq
MIRT2059630	hsa-miR-4328	CLIP-seq
MIRT2059631	hsa-miR-4422	CLIP-seq
MIRT2059632	hsa-miR-4495	CLIP-seq
MIRT2059633	hsa-miR-4519	CLIP-seq
MIRT2059634	hsa-miR-4646-5p	CLIP-seq
MIRT2059635	hsa-miR-4668-3p	CLIP-seq
MIRT2059636	hsa-miR-4677-3p	CLIP-seq
MIRT1207429	hsa-miR-4698	CLIP-seq
MIRT2059637	hsa-miR-4789-5p	CLIP-seq
MIRT1207436	hsa-miR-499-3p	CLIP-seq
MIRT1207437	hsa-miR-499a-3p	CLIP-seq
MIRT2059638	hsa-miR-506	CLIP-seq
MIRT2059639	hsa-miR-518a-5p	CLIP-seq
MIRT2059640	hsa-miR-527	CLIP-seq
MIRT2059641	hsa-miR-539	CLIP-seq
MIRT1207446	hsa-miR-545	CLIP-seq
MIRT2059642	hsa-miR-582-5p	CLIP-seq
MIRT1207462	hsa-miR-664	CLIP-seq
MIRT2059615	hsa-miR-1207-3p	CLIP-seq
MIRT2288035	hsa-miR-1290	CLIP-seq
MIRT1207397	hsa-miR-1298	CLIP-seq
MIRT2059617	hsa-miR-142-5p	CLIP-seq
MIRT2059618	hsa-miR-2964a-3p	CLIP-seq
MIRT2059622	hsa-miR-302f	CLIP-seq
MIRT1207410	hsa-miR-3074-3p	CLIP-seq
MIRT2059623	hsa-miR-3120-3p	CLIP-seq
MIRT2288036	hsa-miR-3167	CLIP-seq
MIRT1207411	hsa-miR-320b	CLIP-seq
MIRT1207412	hsa-miR-320c	CLIP-seq
MIRT1207413	hsa-miR-320d	CLIP-seq
MIRT2288037	hsa-miR-326	CLIP-seq
MIRT2288038	hsa-miR-330-5p	CLIP-seq
MIRT2059626	hsa-miR-340	CLIP-seq
MIRT1207416	hsa-miR-361-5p	CLIP-seq
MIRT2059631	hsa-miR-4422	CLIP-seq
MIRT1207423	hsa-miR-4429	CLIP-seq
MIRT1207425	hsa-miR-4494	CLIP-seq
MIRT2059634	hsa-miR-4646-5p	CLIP-seq
MIRT2059636	hsa-miR-4677-3p	CLIP-seq
MIRT1207428	hsa-miR-4694-3p	CLIP-seq
MIRT1207429	hsa-miR-4698	CLIP-seq
MIRT1207430	hsa-miR-4727-5p	CLIP-seq
MIRT1207431	hsa-miR-4766-5p	CLIP-seq
MIRT1207432	hsa-miR-4769-3p	CLIP-seq
MIRT2288039	hsa-miR-4782-5p	CLIP-seq
MIRT2059637	hsa-miR-4789-5p	CLIP-seq
MIRT1207436	hsa-miR-499-3p	CLIP-seq
MIRT1207437	hsa-miR-499a-3p	CLIP-seq
MIRT1207438	hsa-miR-499a-5p	CLIP-seq
MIRT2059641	hsa-miR-539	CLIP-seq
MIRT1207446	hsa-miR-545	CLIP-seq
MIRT1207462	hsa-miR-664	CLIP-seq
MIRT2288040	hsa-miR-876-5p	CLIP-seq
MIRT2288041	hsa-miR-942	CLIP-seq
MIRT2288042	hsa-miR-944	CLIP-seq
MIRT2059624	hsa-miR-3121-3p	CLIP-seq
MIRT2059624	hsa-miR-3121-3p	CLIP-seq
MIRT2586144	hsa-miR-1287	CLIP-seq
MIRT2059617	hsa-miR-142-5p	CLIP-seq
MIRT2586145	hsa-miR-186	CLIP-seq
MIRT2586146	hsa-miR-208a	CLIP-seq
MIRT2586147	hsa-miR-208b	CLIP-seq
MIRT2586148	hsa-miR-2117	CLIP-seq
MIRT2586149	hsa-miR-216b	CLIP-seq
MIRT2586150	hsa-miR-3133	CLIP-seq
MIRT2059625	hsa-miR-3143	CLIP-seq
MIRT2586151	hsa-miR-3144-3p	CLIP-seq
MIRT2586152	hsa-miR-3152-5p	CLIP-seq
MIRT2059626	hsa-miR-340	CLIP-seq
MIRT2586153	hsa-miR-3617	CLIP-seq
MIRT2586154	hsa-miR-410	CLIP-seq
MIRT2586155	hsa-miR-4255	CLIP-seq
MIRT2586156	hsa-miR-4273	CLIP-seq
MIRT2586157	hsa-miR-4279	CLIP-seq
MIRT2586158	hsa-miR-4320	CLIP-seq
MIRT2059631	hsa-miR-4422	CLIP-seq
MIRT2586159	hsa-miR-4459	CLIP-seq
MIRT2586160	hsa-miR-4477a	CLIP-seq
MIRT2586161	hsa-miR-4480	CLIP-seq
MIRT2059632	hsa-miR-4495	CLIP-seq
MIRT2586162	hsa-miR-4633-5p	CLIP-seq
MIRT2586163	hsa-miR-4670-3p	CLIP-seq
MIRT2586164	hsa-miR-4695-5p	CLIP-seq
MIRT2586165	hsa-miR-4716-5p	CLIP-seq
MIRT2586166	hsa-miR-4722-5p	CLIP-seq
MIRT2586167	hsa-miR-4729	CLIP-seq
MIRT2586168	hsa-miR-4774-3p	CLIP-seq
MIRT2586169	hsa-miR-4797-5p	CLIP-seq
MIRT1207434	hsa-miR-488	CLIP-seq
MIRT2586170	hsa-miR-491-3p	CLIP-seq
MIRT1207436	hsa-miR-499-3p	CLIP-seq
MIRT2586171	hsa-miR-499-5p	CLIP-seq
MIRT1207437	hsa-miR-499a-3p	CLIP-seq
MIRT2586172	hsa-miR-641	CLIP-seq
MIRT2586145	hsa-miR-186	CLIP-seq
MIRT2586152	hsa-miR-3152-5p	CLIP-seq
MIRT2059626	hsa-miR-340	CLIP-seq
MIRT2586161	hsa-miR-4480	CLIP-seq
MIRT2586162	hsa-miR-4633-5p	CLIP-seq
MIRT2586167	hsa-miR-4729	CLIP-seq
MIRT2586168	hsa-miR-4774-3p	CLIP-seq
MIRT1207434	hsa-miR-488	CLIP-seq
MIRT2586170	hsa-miR-491-3p	CLIP-seq
MIRT1207436	hsa-miR-499-3p	CLIP-seq
MIRT1207437	hsa-miR-499a-3p	CLIP-seq

Gene ontology (GO)

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
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0070536	Process	Protein K63-linked deubiquitination	IDA	23827681

Other IDs

• MIM: 612022
• HGNC: 27346
• e!Ensembl: ENSG00000165312

Protein

• UniProt ID: 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
  SIWLSWLSNGHYDAVFDHSYPNPEYDNWCKQTQVQRKRDEELAKSMAISLSKMYIEQNAC
  S

• Sequence length: 481

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTUD1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30100102		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29235476		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29235476		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31467488		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29235476		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36357400	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	39201568	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31467488		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28216291		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	22972473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	22972473	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	24937664	Associate	★☆☆☆☆ Found in Text Mining only