OTULIN

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]

Description

OTU deubiquitinase with linear linkage specificity

Tissue specificity

Tissue enhanced (bone marrow)

Subcell location

Plasma membrane, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (14664664 - 14699850)

Ensembl ID

ENSG00000154124  (ver. 103.38)

Orthologs

Mouse Otulin: ENSMUSG00000046034

UniProt

Q96BN8

neXtProt

NX_Q96BN8

Human splice variants
Mouse splice variants

Protein structure