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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	90268
Gene name	OTU deubiquitinase with linear linkage specificity
Gene symbol	OTULIN
Synonyms (NCBI Gene)	AIPDSAIPDSAFAM105BGUMIMD107
Chromosome	5
Chromosome location	5p15.2
Summary	This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein subs

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037885	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs886037886	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037887	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1553995945	A>G	Likely-pathogenic	Splice acceptor variant

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT754491	hsa-miR-4684-5p	PAR-CLIP	27292025
MIRT754491	hsa-miR-4684-5p	PAR-CLIP	27292025
MIRT742007	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT742015	hsa-miR-1285-3p	HITS-CLIP	27418678
MIRT742015	hsa-miR-1285-3p	HITS-CLIP	27418678
MIRT742016	hsa-miR-3187-5p	HITS-CLIP	27418678
MIRT742016	hsa-miR-3187-5p	HITS-CLIP	27418678
MIRT742003	hsa-miR-3667-5p	HITS-CLIP	27418678
MIRT742003	hsa-miR-3667-5p	HITS-CLIP	27418678
MIRT742012	hsa-miR-371a-5p	HITS-CLIP	27418678
MIRT742012	hsa-miR-371a-5p	HITS-CLIP	27418678
MIRT742009	hsa-miR-371b-5p	HITS-CLIP	27418678
MIRT742009	hsa-miR-371b-5p	HITS-CLIP	27418678
MIRT742013	hsa-miR-372-5p	HITS-CLIP	27418678
MIRT742013	hsa-miR-372-5p	HITS-CLIP	27418678
MIRT742010	hsa-miR-373-5p	HITS-CLIP	27418678
MIRT742010	hsa-miR-373-5p	HITS-CLIP	27418678
MIRT742005	hsa-miR-451b	HITS-CLIP	27418678
MIRT742005	hsa-miR-451b	HITS-CLIP	27418678
MIRT742020	hsa-miR-4696	HITS-CLIP	27418678
MIRT742020	hsa-miR-4696	HITS-CLIP	27418678
MIRT742004	hsa-miR-508-5p	HITS-CLIP	27418678
MIRT742004	hsa-miR-508-5p	HITS-CLIP	27418678
MIRT742017	hsa-miR-5189-5p	HITS-CLIP	27418678
MIRT742017	hsa-miR-5189-5p	HITS-CLIP	27418678
MIRT742018	hsa-miR-612	HITS-CLIP	27418678
MIRT742018	hsa-miR-612	HITS-CLIP	27418678
MIRT742011	hsa-miR-616-5p	HITS-CLIP	27418678
MIRT742011	hsa-miR-616-5p	HITS-CLIP	27418678
MIRT742006	hsa-miR-6501-3p	HITS-CLIP	27418678
MIRT742006	hsa-miR-6501-3p	HITS-CLIP	27418678
MIRT742022	hsa-miR-6512-3p	HITS-CLIP	27418678
MIRT742022	hsa-miR-6512-3p	HITS-CLIP	27418678
MIRT742021	hsa-miR-661	HITS-CLIP	27418678
MIRT742021	hsa-miR-661	HITS-CLIP	27418678
MIRT742023	hsa-miR-6720-5p	HITS-CLIP	27418678
MIRT742023	hsa-miR-6720-5p	HITS-CLIP	27418678
MIRT742007	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT742007	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT742019	hsa-miR-6860	HITS-CLIP	27418678
MIRT742019	hsa-miR-6860	HITS-CLIP	27418678
MIRT742014	hsa-miR-766-3p	HITS-CLIP	27418678
MIRT742014	hsa-miR-766-3p	HITS-CLIP	27418678
MIRT742008	hsa-miR-939-3p	HITS-CLIP	27418678
MIRT742008	hsa-miR-939-3p	HITS-CLIP	27418678
MIRT740260	hsa-miR-548az-5p	HITS-CLIP	19536157
MIRT740261	hsa-miR-548t-5p	HITS-CLIP	19536157
MIRT740262	hsa-miR-4796-3p	HITS-CLIP	19536157
MIRT740263	hsa-miR-99a-3p	HITS-CLIP	19536157
MIRT740264	hsa-miR-99b-3p	HITS-CLIP	19536157
MIRT740265	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT740266	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT740267	hsa-miR-3161	HITS-CLIP	19536157
MIRT740437	hsa-miR-7109-3p	HITS-CLIP	19536157
MIRT740438	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT740439	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT740440	hsa-miR-5695	HITS-CLIP	19536157
MIRT740441	hsa-miR-3185	HITS-CLIP	19536157
MIRT740442	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT740443	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT740260	hsa-miR-548az-5p	HITS-CLIP	19536157
MIRT740261	hsa-miR-548t-5p	HITS-CLIP	19536157
MIRT740262	hsa-miR-4796-3p	HITS-CLIP	19536157
MIRT740263	hsa-miR-99a-3p	HITS-CLIP	19536157
MIRT740264	hsa-miR-99b-3p	HITS-CLIP	19536157
MIRT740265	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT740266	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT740267	hsa-miR-3161	HITS-CLIP	19536157
MIRT740444	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT742003	hsa-miR-3667-5p	HITS-CLIP	23824327
MIRT742004	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT742005	hsa-miR-451b	HITS-CLIP	23824327
MIRT742006	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT742007	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT742008	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT742009	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT742010	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT742011	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT742012	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT742013	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT742014	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT742015	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT742016	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT742017	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT742018	hsa-miR-612	HITS-CLIP	23824327
MIRT742019	hsa-miR-6860	HITS-CLIP	23824327
MIRT742020	hsa-miR-4696	HITS-CLIP	23824327
MIRT742021	hsa-miR-661	HITS-CLIP	23824327
MIRT742022	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT742023	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT754485	hsa-miR-6507-3p	PAR-CLIP	22012620
MIRT754486	hsa-miR-1-5p	PAR-CLIP	22012620
MIRT754487	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT754488	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT754489	hsa-miR-3682-5p	PAR-CLIP	22012620
MIRT754490	hsa-miR-1298-5p	PAR-CLIP	22012620
MIRT754491	hsa-miR-4684-5p	PAR-CLIP	22012620

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0002376	Process	Immune system process	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	EXP	26235645
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	23746843, 23806334, 23827681, 24726323, 24726327, 26997266, 27523608, 27559085
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	35170849, 35587511
GO:0005515	Function	Protein binding	IPI	23708998, 24726323, 25416956, 27523608, 27559085, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23746843
GO:0005737	Component	Cytoplasm	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:0008234	Function	Cysteine-type peptidase activity	IMP	23746843
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IBA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IDA	26997266
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	23746843, 24726327, 27559085
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	23806334, 27523608, 35170849, 35587511
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	26997266
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	23806334
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	23806334, 27523608, 27559085
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	ISS
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	23806334
GO:0071797	Component	LUBAC complex	IEA
GO:1990108	Process	Protein linear deubiquitination	IDA	23746843, 23806334, 23827681, 24726323, 24726327, 26997266, 27523608, 27559085
GO:1990108	Process	Protein linear deubiquitination	IEA
GO:1990108	Process	Protein linear deubiquitination	IMP	30804083, 38630025, 38652464

MIM	HGNC	e!Ensembl
615712	25118	ENSG00000154124

Q96BN8

Protein name

Ubiquitin thioesterase otulin (EC 3.4.19.12) (Deubiquitinating enzyme otulin) (OTU domain-containing deubiquitinase with linear linkage specificity) (Ubiquitin thioesterase Gumby)

Protein function

Deubiquitinase that specifically removes linear ('Met-1'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (PubMed:23708998, PubMed:23746843, PubMed:23806334, PubMed:23827681, PubMed:24

PDB

3ZNV , 3ZNX , 3ZNZ , 4KSJ , 4KSK , 4KSL , 4OYK , 4P0B , 5OE7 , 6I9C , 6SAK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16218	Peptidase_C101	80 → 344	Peptidase family C101	Family

Sequence

MSRGTMPQPEAWPGASCAETPAREAAATARDGGKAAASGQPRPEMQCPAEHEEDMYRAAD
EIEKEKELLIHERGASEPRLSVAPEMDIMDYCKKEWRGNTQKATCMKMGYEEVSQKFTSI
RRVRGDNYCALRATLFQAMSQAVGLPPWLQDPELMLLPEKLISKYNWIKQWKLGLKFDGK
NEDLVDKIKESLTLLRKKWAGLAEMRTAEARQIACDELFTNEAEEYSLYEAVKFLMLNRA
IELYNDKEKGKEVPFFSVLLFARDTSNDPGQLLRNHLNQVGHTGGLEQVEMFLLAYAVRH
TIQVYRLSKYNTEEFITVYPTDPPKDWPVVTLIAEDDRHYNIPVRVCEETSL

Sequence length

352

Interactions

View interactions

	Reactome
			Regulation of TNFR1 signaling Synthesis of active ubiquitin: roles of E1 and E2 enzymes

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
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	Pathogenic	rs1735786455, rs2478223888, rs2478223717, rs2478170124, rs2478212284, rs886037885, rs886037886, rs886037887	RCV001328573 RCV002285190 RCV002285191 RCV002285192 RCV002285193 RCV000240607 RCV000240604 RCV000240606 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	Pathogenic; Likely pathogenic	rs886037886, rs886037887, rs2478185742	RCV002273999 RCV002274000 RCV003444190	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL DOMINANT	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCIUM PYROPHOSPHATE DEPOSITION DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROCALCINOSIS 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETADIAPHYSEAL DYSPLASIA WORMIAN BONE TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTULIN-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	25989359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	35170849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27523608, 28362430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	27559085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29544517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39333335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	28353023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	35170849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36660824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29544517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11166044, 28362430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35587511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
OTULIN-related autoinflammatory syndrome	Autoinflammation, panniculitis, and dermatosis syndrome	BEFREE	27523608, 30804083		★★★★★ ★☆☆☆☆ Found in Text Mining only
OTULIN-related autoinflammatory syndrome	Autoinflammation, panniculitis, and dermatosis syndrome	UNIPROT_DG	27523608, 27559085		★★★★★ ★☆☆☆☆ Found in Text Mining only
OTULIN-related autoinflammatory syndrome	Autoinflammation, panniculitis, and dermatosis syndrome	ORPHANET_DG	27523608, 27559085, 27686184		★★★★★ ★☆☆☆☆ Found in Text Mining only
OTULIN-related autoinflammatory syndrome	Autoinflammation, panniculitis, and dermatosis syndrome	GENOMICS_ENGLAND_DG	27559085		★★★★★ ★☆☆☆☆ Found in Text Mining only
OTULIN-related autoinflammatory syndrome	Autoinflammation, panniculitis, and dermatosis syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
OTULIN-related autoinflammatory syndrome	Autoinflammation, panniculitis, and dermatosis syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23806334, 24461064, 35939695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	35170849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34092220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	31311529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30804083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30804083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38062820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OTULIN (OTU deubiquitinase with linear linkage specificity)