Entity Details

Primary name OTUL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96BN8
EntryNameOTUL_HUMAN
FullNameUbiquitin thioesterase otulin
TaxID9606
Evidenceevidence at protein level
Length352
SequenceStatuscomplete
DateCreated2006-11-28
DateModified2021-06-02

Ontological Relatives

GenesOTULIN

GO terms

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GOName
GO:0002040 sprouting angiogenesis
GO:0004843 thiol-dependent deubiquitinase
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008234 cysteine-type peptidase activity
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway
GO:0016055 Wnt signaling pathway
GO:0016567 protein ubiquitination
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0045087 innate immune response
GO:0050728 negative regulation of inflammatory response
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway
GO:0071797 LUBAC complex
GO:1990108 protein linear deubiquitination

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR023235 FAM105FamilyFamily
IPR023237 Ubiquitin thioesterase otulinFamilyFamily

Diseases

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Disease IDSourceNameDescription
617099 OMIMAutoinflammation, panniculitis, and dermatosis syndrome (AIPDS)An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency. The disease is caused by variants affecting the gene represented in this entry.