ENSG00000154124


Homo sapiens

Features
Gene ID: ENSG00000154124
  
Biological name :OTULIN
  
Synonyms : OTU deubiquitinase with linear linkage specificity / OTULIN / Q96BN8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: p15.2
Gene start: 14664664
Gene end: 14699711
  
Corresponding Affymetrix probe sets: 228382_at (Human Genome U133 Plus 2.0 Array)   229268_at (Human Genome U133 Plus 2.0 Array)   240834_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427016
Ensembl peptide - ENSP00000284274
Ensembl peptide - ENSP00000421928
Ensembl peptide - ENSP00000424966
NCBI entrez gene - 90268     See in Manteia.
OMIM - 615712
RefSeq - XM_017010015
RefSeq - NM_138348
RefSeq - XM_011514151
RefSeq - XM_011514152
RefSeq - XM_011514154
RefSeq Peptide - NP_612357
swissprot - Q96BN8
swissprot - H0Y8S4
swissprot - H0Y9T0
swissprot - D6RD57
Ensembl - ENSG00000154124
  
Related genetic diseases (OMIM): 617099 - Autoinflammation, panniculitis, and dermatosis syndrome, 617099
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 otulinaENSDARG00000073931Danio rerio
 otulinbENSDARG00000079886Danio rerio
 OTULINENSGALG00000019543Gallus gallus
 OtulinENSMUSG00000046034Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NUU6 / FAM105A / family with sequence similarity 105 member AENSG0000014556933


Protein motifs (from Interpro)
Interpro ID Name
 IPR023235  FAM105
 IPR023237  Ubiquitin thioesterase otulin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0002040 sprouting angiogenesis IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0010803 regulation of tumor necrosis factor-mediated signaling pathway IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0045087 innate immune response IMP
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway IMP
 biological_processGO:1990108 protein linear deubiquitination IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0071797 LUBAC complex IEA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IMP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Regulation of TNFR1 signaling
Synthesis of active ubiquitin: roles of E1 and E2 enzymes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001386 Joint swelling 
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 HP:0001508 Failure to thrive 
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 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
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 HP:0002014 Diarrhea 
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 HP:0002633 Vasculitis 
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 HP:0002716 Lymphadenopathy 
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 HP:0002829 Arthralgia 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0009125 Lipodystrophy "Degenerative changes of the fat tissue." [HPO:curators]
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 HP:0011897 Neutrophillia "Increased number of neutrophils circulating in blood." [DDD:akelly]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000170315 UBB / P0CG47 / ubiquitin B  / reaction
 ENSG00000150991 UBC / P0CG48 / ubiquitin C  / reaction
 ENSG00000092098 RNF31 / Q96EP0 / ring finger protein 31  / complex / reaction
 ENSG00000125826 RBCK1 / Q9BYM8 / RANBP2-type and C3HC4-type zinc finger containing 1  / complex / reaction
 ENSG00000179526 Q9H0F6 / SHARPIN / SHANK associated RH domain interactor  / reaction / complex






 

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