OTULIN (OTU deubiquitinase with linear linkage specificity)

2015-10-01  

Identity

HGNC
OTULIN
LOCATION
5p15.2
LOCUSID
90268
ALIAS
AIPDS,FAM105B,GUM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90268
MIM: 615712
HGNC: 25118
Ensembl: ENSG00000154124

Variants:

dbSNP: 90268
ClinVar: 90268
TCGA: ENSG00000154124
COSMIC: OTULIN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154124ENST00000284274Q96BN8
ENSG00000154124ENST00000503023D6RD57
ENSG00000154124ENST00000506417H0Y9T0
ENSG00000154124ENST00000514913H0Y8S4

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Signal TransductionREACTOMER-HSA-162582
Death Receptor SignallingREACTOMER-HSA-73887
TNF signalingREACTOMER-HSA-75893
Regulation of TNFR1 signalingREACTOMER-HSA-5357905
Protein ubiquitinationREACTOMER-HSA-8852135
Synthesis of active ubiquitin: roles of E1 and E2 enzymesREACTOMER-HSA-8866652

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
237468432013OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin.132
238063342013OTULIN restricts Met1-linked ubiquitination to control innate immune signaling.86
237089982013The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.81
275236082016The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
247263272014Binding of OTULIN to the PUB domain of HOIP controls NF-κB signaling.58
247263232014Molecular basis and regulation of OTULIN-LUBAC interaction.55
244610642014Suppression of LUBAC-mediated linear ubiquitination by a specific interaction between LUBAC and the deubiquitinases CYLD and OTULIN.40
275590852016Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.38
284813612017Linear ubiquitination of cytosolic Salmonella Typhimurium activates NF-κB and restricts bacterial proliferation.35

Citation

Dessen P

OTULIN (OTU deubiquitinase with linear linkage specificity)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55461/otulin