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OTULIN OTU deubiquitinase with linear linkage specificity [ Homo sapiens (human) ]

Gene ID: 90268, updated on 7-Jun-2020

Summary

Official Symbol
OTULINprovided by HGNC
Official Full Name
OTU deubiquitinase with linear linkage specificityprovided by HGNC
Primary source
HGNC:HGNC:25118
See related
Ensembl:ENSG00000154124 MIM:615712
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GUM; AIPDS; 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]
Expression
Ubiquitous expression in bone marrow (RPKM 5.9), skin (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See OTULIN in Genome Data Viewer
Location:
5p15.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (14660794..14716552)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (14664783..14699842)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6 pseudogene 2 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 Neighboring gene small nucleolar RNA, C/D box 141B Neighboring gene uncharacterized LOC728178 Neighboring gene uncharacterized LOC100130744 Neighboring gene ANKH inorganic pyrophosphate transport regulator Neighboring gene RBBP4 pseudogene 1 Neighboring gene microRNA 4637

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34884

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleotide-binding oligomerization domain containing 2 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein linear deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein linear deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination TAS
Traceable Author Statement
more info
 
regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of tumor necrosis factor-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
colocalizes_with LUBAC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ubiquitin thioesterase otulin
Names
OTU domain-containing deubiquitinase with linear linkage specificity
deubiquitinating enzyme otulin
family with sequence similarity 105, member B
ubiquitin thioesterase Gumby
NP_612357.4
XP_011512453.1
XP_011512454.1
XP_011512456.1
XP_016865504.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051625.1 RefSeqGene

    Range
    8925..44057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138348.6NP_612357.4  ubiquitin thioesterase otulin

    See identical proteins and their annotated locations for NP_612357.4

    Status: REVIEWED

    Source sequence(s)
    AC010491, BC007706, BC015392, CK817982, DB238080
    Consensus CDS
    CCDS43302.1
    UniProtKB/Swiss-Prot
    Q96BN8
    Related
    ENSP00000284274.4, ENST00000284274.5
    Conserved Domains (1) summary
    pfam16218
    Location:81344
    Peptidase_C101; Peptidase family C101

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    14660794..14716552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514151.2XP_011512453.1  ubiquitin thioesterase otulin isoform X1

    See identical proteins and their annotated locations for XP_011512453.1

    UniProtKB/Swiss-Prot
    Q96BN8
    Conserved Domains (1) summary
    pfam16218
    Location:81344
    Peptidase_C101; Peptidase family C101
  2. XM_011514152.2XP_011512454.1  ubiquitin thioesterase otulin isoform X1

    See identical proteins and their annotated locations for XP_011512454.1

    UniProtKB/Swiss-Prot
    Q96BN8
    Conserved Domains (1) summary
    pfam16218
    Location:81344
    Peptidase_C101; Peptidase family C101
  3. XM_011514154.2XP_011512456.1  ubiquitin thioesterase otulin isoform X3

    Conserved Domains (1) summary
    pfam16218
    Location:81254
    Peptidase_C101; Peptidase family C101
  4. XM_017010015.1XP_016865504.1  ubiquitin thioesterase otulin isoform X2

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