OTULIN OTU deubiquitinase with linear linkage specificity

Gene ID: 90268, updated on 27-Aug-2024
Gene type: protein coding
Also known as: GUM; AIPDS; IMD107; FAM105B

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 substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MedGen: C5774192OMIM: 619986GeneReviews: Not available	not available
Infantile-onset periodic fever-panniculitis-dermatosis syndrome MedGen: C4310614OMIM: 617099GeneReviews: Not available	See labs

Genomic context

Location:: 5p15.2

Sequence:: Chromosome: 5; NC_000005.10 (14664718..14716525)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for OTULIN variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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