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Aliases for OTULIN Gene

Aliases for OTULIN Gene

  • OTU Deubiquitinase With Linear Linkage Specificity 2 3 5
  • 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
  • Gumby 2 3
  • Ubiquitin Thioesterase Otulin 3
  • Protein FAM105B 3
  • EC 3.4.19.12 4
  • AIPDS 3
  • GUM 3

External Ids for OTULIN Gene

Previous HGNC Symbols for OTULIN Gene

  • FAM105B

Summaries for OTULIN Gene

GeneCards Summary for OTULIN Gene

OTULIN (OTU Deubiquitinase With Linear Linkage Specificity) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and TNF signaling (REACTOME). 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 FAM105A.

UniProtKB/Swiss-Prot 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. Associates with the LUBAC complex via direct interaction with RNF31 and counteracts its action by cleaving linear polyubiquitin chains to substrates. Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex. Acts as a negative regulator of NF-kappa-B by counteracting activity of the LUBAC complex. Plays a key role in innate immune response: required to restrict linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTULIN Gene

Genomics for OTULIN Gene

Regulatory Elements for OTULIN Gene

Enhancers for OTULIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around OTULIN on UCSC Golden Path with GeneCards custom track

Promoters for OTULIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OTULIN on UCSC Golden Path with GeneCards custom track

Genomic Location for OTULIN Gene

Chromosome:
5
Start:
14,664,664 bp from pter
End:
14,712,867 bp from pter
Size:
48,204 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 with RNF31; the interaction is direct.
    SequenceCaution:
    • Sequence=AAH07706.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH15392.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC03828.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OTULIN Gene

neXtProt entry for OTULIN Gene

Post-translational modifications for OTULIN Gene

Other Protein References for OTULIN Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for OTULIN (FAM105B)

No data available for DME Specific Peptides for OTULIN Gene

Domains & Families for OTULIN Gene

Gene Families for OTULIN Gene

Protein Domains for OTULIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTULIN Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 OTU domain.
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 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.;
UniProtKB/Swiss-Prot CatalyticActivity:
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).
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. Associates with the LUBAC complex via direct interaction with RNF31 and counteracts its action by cleaving linear polyubiquitin chains to substrates. Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex. Acts as a negative regulator of NF-kappa-B by counteracting activity of the LUBAC complex. Plays a key role in innate immune response: required to restrict linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling.

Enzyme Numbers (IUBMB) 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 IEA,IDA 23746843
GO:0005515 protein binding IPI 23708998
GO:0008234 cysteine-type peptidase activity IEA,IMP 23746843
genes like me logo Genes that share ontologies with OTULIN: view
genes like me logo Genes that share phenotypes with OTULIN: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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.

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 LUBAC complex IEA --
genes like me logo Genes that share ontologies with OTULIN: view

No data available for Subcellular locations from COMPARTMENTS for OTULIN Gene

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
1 R&D Systems pathway for OTULIN Gene

Gene Ontology (GO) - Biological Process for OTULIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002040 sprouting angiogenesis ISS --
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IMP 23806334
GO:0045087 innate immune response IMP 23806334
GO:0050728 negative regulation of inflammatory response IMP 23806334
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
OTULIN

Expression for OTULIN Gene

mRNA expression in normal human tissues for OTULIN Gene

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, PaxDb, MaxQB, and MOPED for OTULIN Gene



Protein tissue co-expression partners for OTULIN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OTULIN Gene:

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia FAM105B 34
  • 86.55 (n)
  • 88.64 (a)
FAM105B 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM105B 34
  • 89.2 (n)
  • 90.34 (a)
FAM105B 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam105b 34
  • 87.69 (n)
  • 90.06 (a)
Otulin 16
Fam105b 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM105B 34
  • 99.9 (n)
  • 100 (a)
FAM105B 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam105b 34
  • 86.84 (n)
  • 87.78 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM105B 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM105B 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM105B 34
  • 66.45 (n)
  • 61.18 (a)
FAM105B 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM105B 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam105b 34
  • 60.9 (n)
  • 57.61 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100001665 34
  • 56.39 (n)
  • 47.26 (a)
fam105bb 35
  • 33 (a)
OneToMany
fam105ba 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToMany
Species where no ortholog for OTULIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for OTULIN Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs9312870 -, - 14,692,921(+) GTACA(A/G)CACGG reference, missense
rs11953822 - 14,681,602(+) AGCTC(A/G/T)TGCTG reference, missense
rs183681 -- 14,664,586(+) CGGCG(A/C)CTCAG upstream-variant-2KB
rs250435 -- 14,664,712(+) TGCGG(A/G)CCCTC upstream-variant-2KB, utr-variant-5-prime
rs250438 -- 14,688,308(+) TGATT(A/G)AGGGC intron-variant

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)

Relevant External Links for OTULIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTULIN

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

Disorders for OTULIN Gene

Relevant External Links for OTULIN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTULIN

No disorders were found for OTULIN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OTULIN Gene

Publications for OTULIN Gene

  1. The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis. (PMID: 23708998) Rivkin E. … Cordes S.P. (Nature 2013) 2 3 4 65
  2. OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1- linked polyubiquitin. (PMID: 23746843) Keusekotten K. … Komander D. (Cell 2013) 2 3 4 65
  3. OTULIN restricts Met1-linked ubiquitination to control innate immune signaling. (PMID: 23806334) Fiil B.K. … Gyrd-Hansen M. (Mol. Cell 2013) 3 4 65
  4. OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis. (PMID: 23827681) Mevissen T.E. … Komander D. (Cell 2013) 3 4 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for OTULIN Gene

Sources for OTULIN Gene

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