Seroatlas · Human Serome Atlas

OTULIN

Ubiquitin thioesterase otulin

Also known as: FAM105B, FLJ34884, OTUL_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96BN8
Gene
OTULIN
Ensembl
ENSG00000154124
Chromosome
5
Canonical length
352 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Plasma membrane,Mitochondria

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

352 residues, UniProt reviewed canonical sequence.

>Q96BN8|OTULIN
     1  MSRGTMPQPE AWPGASCAET PAREAAATAR DGGKAAASGQ PRPEMQCPAE HEEDMYRAAD
    61  EIEKEKELLI HERGASEPRL SVAPEMDIMD YCKKEWRGNT QKATCMKMGY EEVSQKFTSI
   121  RRVRGDNYCA LRATLFQAMS QAVGLPPWLQ DPELMLLPEK LISKYNWIKQ WKLGLKFDGK
   181  NEDLVDKIKE SLTLLRKKWA GLAEMRTAEA RQIACDELFT NEAEEYSLYE AVKFLMLNRA
   241  IELYNDKEKG KEVPFFSVLL FARDTSNDPG QLLRNHLNQV GHTGGLEQVE MFLLAYAVRH
   301  TIQVYRLSKY NTEEFITVYP TDPPKDWPVV TLIAEDDRHY NIPVRVCEET SL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTULIN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 24 nTPM
  • skin: 11 nTPM
  • liver: 11 nTPM
  • tonsil: 7.8 nTPM
  • blood vessel: 7.7 nTPM
  • esophagus: 7.5 nTPM

Single-cell type

  • nk-cells: 114 nCPM
  • pdcs: 93 nCPM
  • salivary ionocytes: 92 nCPM
  • t-cells: 76 nCPM
  • basal keratinocytes: 72 nCPM
  • basal prostatic cells: 71 nCPM

Immune cell

  • naive B-cell: 1.3 nTPM
  • T-reg: 1.2 nTPM
  • eosinophil: 0.8 nTPM
  • non-classical monocyte: 0.7 nTPM
  • naive CD8 T-cell: 0.6 nTPM
  • plasmacytoid DC: 0.6 nTPM

Brain region

  • medulla oblongata: 11 nTPM
  • white matter: 10 nTPM
  • pons: 10 nTPM
  • choroid plexus: 10 nTPM
  • cerebellum: 9.5 nTPM
  • basal ganglia: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTULIN.

Disease | AllUniProt

Conditions OTULIN is implicated in, by any mechanism.

  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive (AIPDSB) MIM:617099
  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant (AIPDSA) MIM:621030
  • Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection (IMD107) MIM:619986

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 292 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
  • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.58
gnomAD pLI
0.22
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OTULIN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OTULIN as an antibody target. Whether an autoantibody or antibody against OTULIN could matter depends on whether native OTULIN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OTULIN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OTULIN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/OTULIN. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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