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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	90268
Gene name Gene Name - the full gene name approved by the HGNC.	OTU deubiquitinase with linear linkage specificity
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OTULIN
Synonyms (NCBI Gene) Gene synonyms aliases	AIPDS, AIPDSA, FAM105B, GUM, IMD107
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AIPDSA, IMD107
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IBA	21873635
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IDA	23746843, 23806334, 23827681, 24726323, 24726327, 26997266, 27523608, 27559085
GO:0005515	Function	Protein binding	IPI	23708998, 24726323, 25416956, 27523608, 27559085, 32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	23746843
GO:0005829	Component	Cytosol	TAS
GO:0008234	Function	Cysteine-type peptidase activity	IMP	23746843
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IBA	21873635
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IDA	26997266
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IBA	21873635
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
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0045087	Process	Innate immune response	IDA	26997266
GO:0045087	Process	Innate immune response	IMP	23806334
GO:0050728	Process	Negative regulation of inflammatory response	IBA	21873635
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	ISS
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	23806334
GO:0071797	Component	LUBAC complex	IBA	21873635
GO:1990108	Process	Protein linear deubiquitination	IBA	21873635
GO:1990108	Process	Protein linear deubiquitination	IDA	23746843, 23806334, 23827681, 24726323, 24726327, 26997266, 27523608, 27559085

MIM	HGNC	e!Ensembl
615712	25118	ENSG00000154124

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587 View all (32 more)	27559085
Lipodystrophy	Lipodystrophy	rs553668, rs766817317

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Autoinflammation, panniculitis, and dermatosis syndrome	autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	GenCC
Immunodeficiency	immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	GenCC
Asthma	Asthma	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
Arthritis	Associate	35170849
Colonic Neoplasms	Associate	39333335
Diarrhea	Associate	35170849
Embryo Loss	Inhibit	31825842
Glioblastoma	Associate	36660824
Hereditary Autoinflammatory Diseases	Associate	27559085, 30804083, 35170849
Hereditary Autoinflammatory Diseases	Inhibit	31825842
Inflammation	Associate	34092220, 35939695
Necrosis	Associate	35587511
Neointima	Associate	35170849
Ovarian Neoplasms	Associate	23806334, 24461064, 35939695
Panniculitis	Associate	35170849
Periodontitis	Associate	34092220
Pneumonia Staphylococcal	Associate	35587511
Skin Diseases	Associate	30804083
Stomach Neoplasms	Associate	38062820

OTULIN (OTU deubiquitinase with linear linkage specificity)