Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55593
Gene name	OTU deubiquitinase 5
Gene symbol	OTUD5
Synonyms (NCBI Gene)	DUBAMCAND
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response

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Show/Hide all (169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051503	hsa-let-7e-5p	CLASH	23622248
MIRT043793	hsa-miR-328-3p	CLASH	23622248
MIRT042795	hsa-miR-339-5p	CLASH	23622248
MIRT041070	hsa-miR-505-3p	CLASH	23622248
MIRT052692	hsa-miR-1260b	CLASH	23622248
MIRT712041	hsa-miR-1273d	HITS-CLIP	19536157
MIRT712040	hsa-miR-3120-3p	HITS-CLIP	19536157
MIRT712039	hsa-miR-3612	HITS-CLIP	19536157
MIRT712038	hsa-miR-650	HITS-CLIP	19536157
MIRT712037	hsa-miR-4443	HITS-CLIP	19536157
MIRT697134	hsa-miR-6873-5p	HITS-CLIP	23313552
MIRT697133	hsa-miR-6858-3p	HITS-CLIP	23313552
MIRT697132	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT697131	hsa-miR-575	HITS-CLIP	23313552
MIRT697130	hsa-miR-6782-5p	HITS-CLIP	23313552
MIRT697129	hsa-miR-4712-3p	HITS-CLIP	23313552
MIRT697128	hsa-miR-4693-3p	HITS-CLIP	23313552
MIRT697127	hsa-miR-6132	HITS-CLIP	23313552
MIRT697126	hsa-miR-6836-5p	HITS-CLIP	23313552
MIRT697125	hsa-miR-1909-3p	HITS-CLIP	23313552
MIRT697123	hsa-miR-6722-3p	HITS-CLIP	23313552
MIRT697124	hsa-miR-885-3p	HITS-CLIP	23313552
MIRT697122	hsa-miR-664b-5p	HITS-CLIP	23313552
MIRT697121	hsa-miR-4651	HITS-CLIP	23313552
MIRT697120	hsa-miR-608	HITS-CLIP	23313552
MIRT697119	hsa-miR-6756-5p	HITS-CLIP	23313552
MIRT697118	hsa-miR-6766-5p	HITS-CLIP	23313552
MIRT697117	hsa-miR-541-3p	HITS-CLIP	23313552
MIRT697116	hsa-miR-654-5p	HITS-CLIP	23313552
MIRT697115	hsa-miR-4417	HITS-CLIP	23313552
MIRT697114	hsa-miR-520a-5p	HITS-CLIP	23313552
MIRT712041	hsa-miR-1273d	HITS-CLIP	19536157
MIRT712040	hsa-miR-3120-3p	HITS-CLIP	19536157
MIRT712039	hsa-miR-3612	HITS-CLIP	19536157
MIRT712038	hsa-miR-650	HITS-CLIP	19536157
MIRT712037	hsa-miR-4443	HITS-CLIP	19536157
MIRT697134	hsa-miR-6873-5p	HITS-CLIP	23313552
MIRT697133	hsa-miR-6858-3p	HITS-CLIP	23313552
MIRT697132	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT697131	hsa-miR-575	HITS-CLIP	23313552
MIRT697130	hsa-miR-6782-5p	HITS-CLIP	23313552
MIRT697129	hsa-miR-4712-3p	HITS-CLIP	23313552
MIRT697128	hsa-miR-4693-3p	HITS-CLIP	23313552
MIRT697127	hsa-miR-6132	HITS-CLIP	23313552
MIRT697126	hsa-miR-6836-5p	HITS-CLIP	23313552
MIRT697125	hsa-miR-1909-3p	HITS-CLIP	23313552
MIRT697123	hsa-miR-6722-3p	HITS-CLIP	23313552
MIRT697124	hsa-miR-885-3p	HITS-CLIP	23313552
MIRT697122	hsa-miR-664b-5p	HITS-CLIP	23313552
MIRT697121	hsa-miR-4651	HITS-CLIP	23313552
MIRT697120	hsa-miR-608	HITS-CLIP	23313552
MIRT697119	hsa-miR-6756-5p	HITS-CLIP	23313552
MIRT697118	hsa-miR-6766-5p	HITS-CLIP	23313552
MIRT697117	hsa-miR-541-3p	HITS-CLIP	23313552
MIRT697116	hsa-miR-654-5p	HITS-CLIP	23313552
MIRT697115	hsa-miR-4417	HITS-CLIP	23313552
MIRT697114	hsa-miR-520a-5p	HITS-CLIP	23313552
MIRT1207978	hsa-miR-1273f	CLIP-seq
MIRT1207979	hsa-miR-1278	CLIP-seq
MIRT1207980	hsa-miR-3170	CLIP-seq
MIRT1207981	hsa-miR-3689a-3p	CLIP-seq
MIRT1207982	hsa-miR-3689c	CLIP-seq
MIRT1207983	hsa-miR-4425	CLIP-seq
MIRT1207984	hsa-miR-4433	CLIP-seq
MIRT1207985	hsa-miR-4722-5p	CLIP-seq
MIRT2059762	hsa-miR-4480	CLIP-seq
MIRT2288091	hsa-miR-3189-5p	CLIP-seq
MIRT2288092	hsa-miR-4758-3p	CLIP-seq
MIRT2288093	hsa-miR-1224-3p	CLIP-seq
MIRT2288094	hsa-miR-1260	CLIP-seq
MIRT1207979	hsa-miR-1278	CLIP-seq
MIRT2288095	hsa-miR-1280	CLIP-seq
MIRT2288096	hsa-miR-188-3p	CLIP-seq
MIRT2288097	hsa-miR-2278	CLIP-seq
MIRT2288098	hsa-miR-3156-3p	CLIP-seq
MIRT1207980	hsa-miR-3170	CLIP-seq
MIRT2288099	hsa-miR-4301	CLIP-seq
MIRT1207984	hsa-miR-4433	CLIP-seq
MIRT2288100	hsa-miR-4691-5p	CLIP-seq
MIRT1207985	hsa-miR-4722-5p	CLIP-seq
MIRT2288101	hsa-miR-4778-3p	CLIP-seq
MIRT2288102	hsa-miR-532-3p	CLIP-seq
MIRT2288097	hsa-miR-2278	CLIP-seq
MIRT2455764	hsa-miR-3133	CLIP-seq
MIRT2455765	hsa-miR-3173-3p	CLIP-seq
MIRT2455766	hsa-miR-3175	CLIP-seq
MIRT2455767	hsa-miR-4468	CLIP-seq
MIRT2455768	hsa-miR-4773	CLIP-seq
MIRT2586244	hsa-miR-1207-3p	CLIP-seq
MIRT2586245	hsa-miR-1227	CLIP-seq
MIRT2586246	hsa-miR-1301	CLIP-seq
MIRT2586247	hsa-miR-148a	CLIP-seq
MIRT2586248	hsa-miR-148b	CLIP-seq
MIRT2586249	hsa-miR-152	CLIP-seq
MIRT2586250	hsa-miR-1825	CLIP-seq
MIRT2586251	hsa-miR-27a	CLIP-seq
MIRT2586252	hsa-miR-27b	CLIP-seq
MIRT2586253	hsa-miR-3074-3p	CLIP-seq
MIRT2586254	hsa-miR-3135b	CLIP-seq
MIRT2586255	hsa-miR-3173-5p	CLIP-seq
MIRT2288091	hsa-miR-3189-5p	CLIP-seq
MIRT2586256	hsa-miR-323-3p	CLIP-seq
MIRT2586257	hsa-miR-4292	CLIP-seq
MIRT2059762	hsa-miR-4480	CLIP-seq
MIRT2586258	hsa-miR-4632	CLIP-seq
MIRT2586259	hsa-miR-4660	CLIP-seq
MIRT2586260	hsa-miR-4662a-3p	CLIP-seq
MIRT2586261	hsa-miR-4667-3p	CLIP-seq
MIRT2288100	hsa-miR-4691-5p	CLIP-seq
MIRT2586262	hsa-miR-4715-3p	CLIP-seq
MIRT2586263	hsa-miR-4725-5p	CLIP-seq
MIRT2288092	hsa-miR-4758-3p	CLIP-seq
MIRT2586264	hsa-miR-4763-5p	CLIP-seq
MIRT2586265	hsa-miR-4775	CLIP-seq
MIRT2586266	hsa-miR-4796-5p	CLIP-seq
MIRT2586267	hsa-miR-504	CLIP-seq
MIRT2586268	hsa-miR-5047	CLIP-seq
MIRT2586269	hsa-miR-507	CLIP-seq
MIRT2586270	hsa-miR-512-3p	CLIP-seq
MIRT2586271	hsa-miR-513a-5p	CLIP-seq
MIRT2586272	hsa-miR-548a-5p	CLIP-seq
MIRT2586273	hsa-miR-548ab	CLIP-seq
MIRT2586274	hsa-miR-548ak	CLIP-seq
MIRT2586275	hsa-miR-548b-5p	CLIP-seq
MIRT2586276	hsa-miR-548c-5p	CLIP-seq
MIRT2586277	hsa-miR-548d-5p	CLIP-seq
MIRT2586278	hsa-miR-548h	CLIP-seq
MIRT2586279	hsa-miR-548i	CLIP-seq
MIRT2586280	hsa-miR-548j	CLIP-seq
MIRT2586281	hsa-miR-548n	CLIP-seq
MIRT2586282	hsa-miR-548t	CLIP-seq
MIRT2586283	hsa-miR-548w	CLIP-seq
MIRT2586284	hsa-miR-548y	CLIP-seq
MIRT2586285	hsa-miR-557	CLIP-seq
MIRT2586286	hsa-miR-559	CLIP-seq
MIRT2586287	hsa-miR-577	CLIP-seq
MIRT2586288	hsa-miR-590-3p	CLIP-seq
MIRT2586289	hsa-miR-626	CLIP-seq
MIRT2586290	hsa-miR-659	CLIP-seq
MIRT2586291	hsa-miR-938	CLIP-seq
MIRT2586244	hsa-miR-1207-3p	CLIP-seq
MIRT2586245	hsa-miR-1227	CLIP-seq
MIRT2586246	hsa-miR-1301	CLIP-seq
MIRT2586247	hsa-miR-148a	CLIP-seq
MIRT2586248	hsa-miR-148b	CLIP-seq
MIRT2586249	hsa-miR-152	CLIP-seq
MIRT2586250	hsa-miR-1825	CLIP-seq
MIRT2586251	hsa-miR-27a	CLIP-seq
MIRT2586252	hsa-miR-27b	CLIP-seq
MIRT2586254	hsa-miR-3135b	CLIP-seq
MIRT2586255	hsa-miR-3173-5p	CLIP-seq
MIRT2586256	hsa-miR-323-3p	CLIP-seq
MIRT2686920	hsa-miR-3655	CLIP-seq
MIRT2586257	hsa-miR-4292	CLIP-seq
MIRT2059762	hsa-miR-4480	CLIP-seq
MIRT2586258	hsa-miR-4632	CLIP-seq
MIRT2586259	hsa-miR-4660	CLIP-seq
MIRT2586262	hsa-miR-4715-3p	CLIP-seq
MIRT2586263	hsa-miR-4725-5p	CLIP-seq
MIRT2686921	hsa-miR-4730	CLIP-seq
MIRT2586266	hsa-miR-4796-5p	CLIP-seq
MIRT2586267	hsa-miR-504	CLIP-seq
MIRT2586268	hsa-miR-5047	CLIP-seq
MIRT2686922	hsa-miR-505	CLIP-seq
MIRT2586270	hsa-miR-512-3p	CLIP-seq
MIRT2586271	hsa-miR-513a-5p	CLIP-seq
MIRT2586289	hsa-miR-626	CLIP-seq
MIRT2586290	hsa-miR-659	CLIP-seq
MIRT2586291	hsa-miR-938	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	22245969, 23827681, 33110214
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005634	Component	Nucleus	IDA	33523931
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0014033	Process	Neural crest cell differentiation	IMP	33523931
GO:0016579	Process	Protein deubiquitination	IDA	22245969
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032480	Process	Negative regulation of type I interferon production	TAS
GO:0032496	Process	Response to lipopolysaccharide	IDA	22245969
GO:0050776	Process	Regulation of immune response	IBA
GO:0061578	Function	K63-linked deubiquitinase activity	EXP	17991829
GO:0061578	Function	K63-linked deubiquitinase activity	IBA
GO:0061578	Function	K63-linked deubiquitinase activity	IDA	22245969
GO:0061578	Function	K63-linked deubiquitinase activity	IMP	33523931
GO:0070536	Process	Protein K63-linked deubiquitination	IDA	22245969, 23827681
GO:0070536	Process	Protein K63-linked deubiquitination	IMP	33523931
GO:0071108	Process	Protein K48-linked deubiquitination	IDA	22245969, 23827681
GO:0071108	Process	Protein K48-linked deubiquitination	IMP	33523931
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	33110214
GO:0101005	Function	Deubiquitinase activity	IDA	22245969
GO:0101005	Function	Deubiquitinase activity	IMP	33110214
GO:1904263	Process	Positive regulation of TORC1 signaling	IBA
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	33110214
GO:1904515	Process	Positive regulation of TORC2 signaling	IBA
GO:1904515	Process	Positive regulation of TORC2 signaling	IMP	33110214
GO:1990380	Function	K48-linked deubiquitinase activity	IDA	22245969
GO:1990380	Function	K48-linked deubiquitinase activity	IMP	33523931

MIM	HGNC	e!Ensembl
300713	25402	ENSG00000068308

Q96G74

Protein name

OTU domain-containing protein 5 (EC 3.4.19.12) (Deubiquitinating enzyme A) (DUBA)

Protein function

Deubiquitinating enzyme that functions as a negative regulator of the innate immune system (PubMed:17991829, PubMed:22245969, PubMed:23827681, PubMed:33523931). Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (P

PDB

3PFY , 3TMO , 3TMP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02338	OTU	219 → 338	OTU-like cysteine protease	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in various tissues, including the liver and placenta, as well as in peripheral blood leukocytes. {ECO:0000269|PubMed:17991829}.

Sequence

MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGAR
PRASPPPQGPLPGPPGALHRWALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAA
AAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGAVGGGSPEREEVGAGYNSEDE
YEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH
EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQ
YSTGTSAVEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFA
EQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARESYLQWLRDQEKQARQ
VRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT
VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDE
ILASVLAVSQQEYLDSMKKNKVHRDPPPDKS

Sequence length

571

Interactions

View interactions

	KEGG		Reactome
	RIG-I-like receptor signaling pathway		Ovarian tumor domain proteases Negative regulators of DDX58/IFIH1 signaling

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic; Likely pathogenic	rs2147523033, rs2519708540, rs2063984022, rs2063620799, rs2063801903, rs2063659512	RCV001528131 RCV003152813 RCV001290731 RCV001290732 RCV001290733 RCV001290735 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OTUD5-related disorder	Likely pathogenic	rs2519728724	RCV003399964	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Abnormal cerebral cortex morphology	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSGENESIS OF CORPUS CALLOSUM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysplastic corpus callosum	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
cervical cancer	Cervical Cancer	BEFREE	31075090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31075090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33523931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	38037881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38037881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	29049012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	37713620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38037881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38037881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	33675743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31075090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29435172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29435172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33587979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31075090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OTUD5 (OTU deubiquitinase 5)