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 inflamm... See more...

Aliases for OTULIN Gene

Aliases for OTULIN Gene

  • OTU Deubiquitinase With Linear Linkage Specificity 2 3 5
  • Ubiquitin Thioesterase Otulin 2 3 4
  • OTU Domain-Containing Deubiquitinase With Linear Linkage Specificity 3 4
  • Family With Sequence Similarity 105, Member B 2 3
  • Deubiquitinating Enzyme Otulin 3 4
  • Ubiquitin Thioesterase Gumby 3 4
  • FAM105B 3 4
  • EC 3.4.19.12 4
  • FLJ34884 2
  • OTULIN 5
  • Gumby 2
  • AIPDS 3
  • GUM 3

External Ids for OTULIN Gene

Previous HGNC Symbols for OTULIN Gene

  • FAM105B

Summaries for OTULIN Gene

Entrez Gene Summary for OTULIN 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]

GeneCards Summary for OTULIN Gene

OTULIN (OTU Deubiquitinase With Linear Linkage Specificity) is a Protein Coding gene. Diseases associated with OTULIN include Autoinflammation, Panniculitis, And Dermatosis Syndrome and Panniculitis. Among its related pathways are Signaling by GPCR and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include cysteine-type peptidase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTULINL.

UniProtKB/Swiss-Prot Summary for OTULIN Gene

  • Deubiquitinase that specifically removes linear ('Met-1'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (PubMed:26997266, PubMed:23708998, PubMed:23746843, PubMed:23806334, PubMed:23827681, PubMed:27523608, PubMed:27559085, PubMed:24726323, PubMed:24726327, PubMed:28919039). Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex (PubMed:23708998). Acts as a negative regulator of NF-kappa-B by regulating the activity of the LUBAC complex (PubMed:23746843, PubMed:23806334). OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing 'Met-1'-linked autoubiquitination of the LUBAC complex, thereby preventing inactivation of the LUBAC complex (PubMed:26670046). Acts as a key negative regulator of inflammation by restricting spontaneous inflammation and maintaining immune homeostasis (PubMed:27523608). In myeloid cell, required to prevent unwarranted secretion of cytokines leading to inflammation and autoimmunity by restricting linear polyubiquitin formation (PubMed:27523608). Plays a role in innate immune response by restricting linear polyubiquitin formation on LUBAC complex in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling (PubMed:23806334).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTULIN Gene

Genomics for OTULIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OTULIN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J014663 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 281.2 +5.3 5259 5.8 TBP SP1 ZBTB10 MXD4 NR2C1 MNT IKZF1 SMAD5 ETS1 ZFP64 OTULIN OTULIN-DT TRIO EEF1A1P13 RBBP4P1 OTULINL HSALNG0040319 ANKH
GH05J014659 Enhancer 0.9 Ensembl ENCODE dbSUPER 257.6 -0.2 -174 2 MAFF RXRA FOXA2 ZNF316 JUND MAFK HNF4A FOXA1 SP1 BHLHE40 OTULIN piR-50443-301 OTULINL OTULIN-DT EEF1A1P13 HSALNG0040316
GH05J014662 Enhancer 0.4 Ensembl 250.7 +1.9 1907 0.2 MAFF MAFK EMSY OTULIN OTULIN-DT piR-50443-301 ANKH
GH05J014669 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 19.8 +10.2 10193 3.4 FEZF1 JUND ZNF316 PRDM6 SPI1 NFE2 ZNF2 ZFP37 ZBTB48 ZNF189 OTULIN OTULINL OTULIN-DT HSALNG0040319 ANKH
GH05J014439 Promoter/Enhancer 2.1 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -214.0 -214023 15.8 FEZF1 POLR2A ZIC2 ZNF610 ZNF513 ZNF639 MAFF KLF7 ZNF341 GABPA TRIO OTULIN EEF1A1P13 FJ601684-370 piR-33422-331 RF00017-4512 OTULINL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTULIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTULIN

Genomic Locations for OTULIN Gene

Latest Assembly
chr5:14,660,794-14,716,552
(GRCh38/hg38)
Size:
55,759 bases
Orientation:
Plus strand

Previous Assembly
chr5:14,664,827-14,699,959
(GRCh37/hg19 by Entrez Gene)
Size:
35,133 bases
Orientation:
Plus strand

chr5:14,664,773-14,699,820
(GRCh37/hg19 by Ensembl)
Size:
35,048 bases
Orientation:
Plus strand

Genomic View for OTULIN Gene

Genes around OTULIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTULIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTULIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTULIN Gene

Proteins for OTULIN Gene

  • Protein details for OTULIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BN8-OTUL_HUMAN
    Recommended name:
    Ubiquitin thioesterase otulin
    Protein Accession:
    Q96BN8
    Secondary Accessions:
    • D3DTD3
    • Q8NAS0
    • Q96IA3

    Protein attributes for OTULIN Gene

    Size:
    352 amino acids
    Molecular mass:
    40263 Da
    Quaternary structure:
    • Interacts (via the PUB domain) with RNF31 (via the PIM motif); the interaction is direct (PubMed:23708998, PubMed:23746843, PubMed:24726323, PubMed:24726327, PubMed:27523608). Interacts with DVL2 (By similarity).
    SequenceCaution:
    • Sequence=AAH07706.3; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH15392.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03828.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OTULIN Gene

neXtProt entry for OTULIN Gene

Post-translational modifications for OTULIN Gene

  • Ubiquitinated.
  • Acetylated.
  • Phosphorylated (PubMed:23746843, PubMed:24726323, PubMed:24726327). Phosphorylation at Tyr-56 prevents interaction with RNF31; dephosphorylation promotes interaction with RNF31 and the LUBAC complex (PubMed:24726323, PubMed:24726327).
  • Ubiquitination at Lys34, Lys64, and Lys66
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OTULIN Gene

Domains & Families for OTULIN Gene

Gene Families for OTULIN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for OTULIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTULIN Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM105B (F105B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96BN8

UniProtKB/Swiss-Prot:

OTUL_HUMAN :
  • The specificity for linear polyubiquitin is given by the 'Glu-16' residue in ubiquitin chain.
  • Belongs to the peptidase C65 family. Otulin subfamily.
Domain:
  • The specificity for linear polyubiquitin is given by the 'Glu-16' residue in ubiquitin chain.
  • The PIM (PUB-interaction motif) motif mediates interaction with the PUB domain of RNF31 (PubMed:24726323, PubMed:24726327, PubMed:27458237). Does not interact with other PUB domain-containing proteins. Phosphorylation at Tyr-56 prevents interaction with RNF31 (PubMed:24726323, PubMed:24726327).
Family:
  • Belongs to the peptidase C65 family. Otulin subfamily.
genes like me logo Genes that share domains with OTULIN: view

Function for OTULIN Gene

Molecular function for OTULIN Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinase that specifically removes linear ('Met-1'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (PubMed:26997266, PubMed:23708998, PubMed:23746843, PubMed:23806334, PubMed:23827681, PubMed:27523608, PubMed:27559085, PubMed:24726323, PubMed:24726327, PubMed:28919039). Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex (PubMed:23708998). Acts as a negative regulator of NF-kappa-B by regulating the activity of the LUBAC complex (PubMed:23746843, PubMed:23806334). OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing 'Met-1'-linked autoubiquitination of the LUBAC complex, thereby preventing inactivation of the LUBAC complex (PubMed:26670046). Acts as a key negative regulator of inflammation by restricting spontaneous inflammation and maintaining immune homeostasis (PubMed:27523608). In myeloid cell, required to prevent unwarranted secretion of cytokines leading to inflammation and autoimmunity by restricting linear polyubiquitin formation (PubMed:27523608). Plays a role in innate immune response by restricting linear polyubiquitin formation on LUBAC complex in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling (PubMed:23806334).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:23746843, ECO:0000269|PubMed:23827681, ECO:0000269|PubMed:27523608, ECO:0000269|PubMed:28919039};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.98 uM for linear diubiquitin {ECO:0000269|PubMed:23746843}; Note=Kcat is 6.3 sec(-1) with linear diubiquitin as substrate. {ECO:0000269|PubMed:23746843};

Enzyme Numbers (IUBMB) for OTULIN Gene

Phenotypes From GWAS Catalog for OTULIN Gene

Gene Ontology (GO) - Molecular Function for OTULIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA,IDA 23746843
GO:0005515 protein binding IPI 23708998
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IMP 23746843
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with OTULIN: view
genes like me logo Genes that share phenotypes with OTULIN: view

Human Phenotype Ontology for OTULIN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTULIN

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for OTULIN Gene

Localization for OTULIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTULIN Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTULIN gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OTULIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 23746843
GO:0005829 cytosol TAS --
GO:0071797 colocalizes_with LUBAC complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with OTULIN: view

Pathways & Interactions for OTULIN Gene

genes like me logo Genes that share pathways with OTULIN: view

Pathways by source for OTULIN Gene

1 Cell Signaling Technology pathway for OTULIN Gene

Gene Ontology (GO) - Biological Process for OTULIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0002040 sprouting angiogenesis IEA,ISS --
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway IBA,TAS --
genes like me logo Genes that share ontologies with OTULIN: view

No data available for SIGNOR curated interactions for OTULIN Gene

Drugs & Compounds for OTULIN Gene

No Compound Related Data Available

Transcripts for OTULIN Gene

mRNA/cDNA for OTULIN Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTULIN

Alternative Splicing Database (ASD) splice patterns (SP) for OTULIN Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for OTULIN Gene

GeneLoc Exon Structure for
OTULIN

Expression for OTULIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OTULIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Bone (Muscoskeletal System)

Protein differential expression in normal tissues from HIPED for OTULIN Gene

This gene is overexpressed in Bone (36.4) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OTULIN Gene



Protein tissue co-expression partners for OTULIN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTULIN

genes like me logo Genes that share expression patterns with OTULIN: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTULIN Gene

Orthologs for OTULIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTULIN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM105B 30 31
  • 99.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM105B 30 31
  • 89.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam105b 30 31
  • 87.69 (n)
OneToOne
Otulin 17
Rat
(Rattus norvegicus)
Mammalia Fam105b 30
  • 86.84 (n)
Cow
(Bos Taurus)
Mammalia FAM105B 30 31
  • 86.55 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM105B 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM105B 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM105B 30 31
  • 66.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM105B 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam105b 30
  • 60.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100001665 30
  • 56.39 (n)
fam105bb 31
  • 33 (a)
OneToMany
fam105ba 31
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for OTULIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for OTULIN Gene

ENSEMBL:
Gene Tree for OTULIN (if available)
TreeFam:
Gene Tree for OTULIN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTULIN: view image

Paralogs for OTULIN Gene

Paralogs for OTULIN Gene

genes like me logo Genes that share paralogs with OTULIN: view

Variants for OTULIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTULIN Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
871185 Uncertain Significance: not provided 14,664,944(+) A/G
NM_138348.6(OTULIN):c.119A>G (p.Gln40Arg)
MISSENSE
871186 Uncertain Significance: not provided 14,711,274(+) C/A
NM_054027.6(ANKH):c.1402G>T (p.Glu468Ter)
NONSENSE
903685 Uncertain Significance: Familial calcium pyrophosphate deposition; Craniometaphyseal dysplasia, autosomal dominant 14,709,425(+) G/A
NM_054027.6(ANKH):c.*1772C>T
THREE_PRIME_UTR
903686 Uncertain Significance: Familial calcium pyrophosphate deposition; Craniometaphyseal dysplasia, autosomal dominant 14,709,443(+) C/T
NM_054027.6(ANKH):c.*1754G>A
THREE_PRIME_UTR
903687 Uncertain Significance: Familial calcium pyrophosphate deposition; Craniometaphyseal dysplasia, autosomal dominant 14,709,444(+) G/A
NM_054027.6(ANKH):c.*1753C>T
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTULIN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OTULIN Gene

Variant ID Type Subtype PubMed ID
esv1000304 CNV insertion 20482838
esv28342 CNV loss 19812545
nsv1018187 CNV gain 25217958
nsv1026914 CNV gain 25217958
nsv4728 CNV insertion 18451855
nsv597254 CNV loss 21841781
nsv597255 CNV gain 21841781
nsv597256 CNV gain 21841781
nsv830211 CNV loss 17160897

Variation tolerance for OTULIN Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.64; 65.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTULIN Gene

Human Gene Mutation Database (HGMD)
OTULIN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTULIN

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTULIN Gene

Disorders for OTULIN Gene

MalaCards: The human disease database

(11) MalaCards diseases for OTULIN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OTUL_HUMAN
  • Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099]: 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. {ECO:0000269 PubMed:27523608, ECO:0000269 PubMed:27559085}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for OTULIN

genes like me logo Genes that share disorders with OTULIN: view

No data available for Genatlas for OTULIN Gene

Publications for OTULIN Gene

  1. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. (PMID: 27559085) Zhou Q … Aksentijevich I (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4 74
  2. The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis. (PMID: 23708998) Rivkin E … Cordes SP (Nature 2013) 2 3 4
  3. OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin. (PMID: 23746843) Keusekotten K … Komander D (Cell 2013) 2 3 4
  4. A Linear Diubiquitin-Based Probe for Efficient and Selective Detection of the Deubiquitinating Enzyme OTULIN. (PMID: 28919039) Weber A … Krappmann D (Cell chemical biology 2017) 3 4
  5. SPATA2 promotes CYLD activity and regulates TNF-induced NF-κB signaling and cell death. (PMID: 27458237) Schlicher L … Maurer U (EMBO reports 2016) 3 4

Products for OTULIN Gene

Sources for OTULIN Gene