OTULIN - OTU deubiquitinase with linear linkage specificity Gene

Also Known as GUM; AIPDS; IMD107; FAM105B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 90268

About OTULIN

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:14,664,718-14,716,525 (from NCBI)

This gene has 7 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.9), skin (RPKM 4.5) and 25 other tissues.

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]

OTULIN Products (1)

mRNA Protein Name
NM_138348.6 NP_612357.4 ubiquitin thioesterase otulin

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables cysteine-type deubiquitinase activity EXP
EXP: Inferred from Experiment
26235645 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
23746843 GOA
enables cysteine-type deubiquitinase activity IMP
IMP: Inferred from mutant phenotype
35170849 GOA
enables cysteine-type peptidase activity IMP
IMP: Inferred from mutant phenotype
23746843 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23708998 GOA
Biological Process GO Annotation Evidence References Source
involved in innate immune response IDA
IDA: Inferred from direct assay
26997266 GOA
involved in innate immune response IMP
IMP: Inferred from mutant phenotype
23806334 GOA
involved in negative regulation of NF-kappaB transcription factor activity IDA
IDA: Inferred from direct assay
23746843 GOA
involved in negative regulation of NF-kappaB transcription factor activity IMP
IMP: Inferred from mutant phenotype
23806334 GOA
involved in negative regulation of inflammatory response IMP
IMP: Inferred from mutant phenotype
23806334 GOA
involved in nucleotide-binding oligomerization domain containing 2 signaling pathway IMP
IMP: Inferred from mutant phenotype
23806334 GOA
involved in protein linear deubiquitination IDA
IDA: Inferred from direct assay
23746843 GOA
involved in regulation of tumor necrosis factor-mediated signaling pathway IDA
IDA: Inferred from direct assay
26997266 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
23746843 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ubiquitin thioesterase otulin

  • OTU domain-containing deubiquitinase with linear linkage specificity

OTULIN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
OTULIN Q96BN8 TMEM239 Homo sapiens Q8WW34-2
Y2H Array
32296183
Intra
OTULIN Q96BN8 TMEM239 Homo sapiens Q8WW34-2
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 FAM168A Homo sapiens Q92567-2
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 FAM168A Homo sapiens Q92567-2
Y2H Array
32296183
Intra
OTULIN Q96BN8 SPART Homo sapiens Q8N0X7
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 SPART Homo sapiens Q8N0X7
Y2H Array
32296183
Intra
OTULIN Q96BN8 SFT2D1 Homo sapiens Q8WV19
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 SFT2D1 Homo sapiens Q8WV19
Y2H Array
32296183
Intra
OTULIN Q96BN8 SUSD6 Homo sapiens Q92537
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 SUSD6 Homo sapiens Q92537
Y2H Array
32296183
Intra
OTULIN Q96BN8 OTUD7B Homo sapiens Q6GQQ9
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 OTUD7B Homo sapiens Q6GQQ9
Y2H Array
32296183
Intra
OTULIN Q96BN8 DAZAP2 Homo sapiens Q15038
Y2H Array
32296183
Intra
OTULIN Q96BN8 DAZAP2 Homo sapiens Q15038
Y2H Prey Pooling
32296183
Intra
OTULIN Q96BN8 FAM168A Homo sapiens Q92567
Y2H Array
25416956
Intra
OTULIN Q96BN8 FAM168A Homo sapiens Q92567
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Autoinflammation, Panniculitis, And Dermatosis Syndrome

  • Otulipenia

  • Otulin-Related Autoinflammatory Syndrome

  • AIPDS

  • Oras

  • Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome

  • Autoinflammation, Panniculitis And Dermatosis Syndrome

  • Otulin Deficiency
Immunodeficiency 107 Invasive Staphylococcus Aureus Infection

  • Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection

  • IMD107
Familial Calcium Pyrophosphate Deposition

  • Calcium Pyrophosphate Dihydrate Crystal Deposition Disease

  • Familial Cc

  • Familial Cppd

  • Familial Articular Chondrocalcinosis

  • Hereditary Cc

  • Hereditary Articular Chondrocalcinosis

  • Hereditary Calcium Pyrophosphate Deposition

  • Calcium Pyrophosphate Deposition Disease

  • Calcium Pyrophosphate Arthropathy
Chondrocalcinosis 2

  • Calcium Pyrophosphate Arthropathy

  • CCAL2

  • Calcium Gout

  • Calcium Pyrophosphate Dihydrate Deposition Disease

  • Cppdd

  • Calcium Pyrophosphate Dihydrate Deposition Disease 2

  • Cppdd2

  • Chondrocalcinosis, Familial Articular

  • Chondrocalcinosis Familial Articular

  • Familial Articular Chondrocalcinosis

  • Calcium Pyrophosphate Dihydrate Deposition

  • Calcium Gout, Familial

  • Calcium Pyrophosphate Arthropathy, Familial

  • Familial Calcium Pyrophosphate Dihydrate Deposition Disease

  • Pseudogout, Familial

  • Chondrocalcinosis, Type 2
Craniometaphyseal Dysplasia, Autosomal Dominant

  • Craniometaphyseal Dysplasia

  • CMDD

  • Cmdj

  • Cmd

  • Autosomal Dominant Craniometaphyseal Dysplasia

  • Craniometaphyseal Dysplasia, Jackson Type

  • Craniometaphyseal Dysplasia Jackson Type

  • Autosomal Recessive Craniometaphyseal Dysplasia

  • Cmdr

  • Dysplasia, Craniometaphyseal, Autosomal Dominant

  • Craniometaphyseal Dysplasia, Autosomal Recessive Type
Panniculitis

  • Nodular Panniculitis
Familial Behcet-Like Autoinflammatory Syndrome

  • Autoinflammatory Syndrome, Familial, Behcet-Like

  • A20 Haploinsufficiency
Immunodeficiency 57 With Autoinflammation

  • Immunodeficiency 57

  • IMD57

  • Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome
Familial Cold Autoinflammatory Syndrome 4

  • FCAS4

  • Nlrc4-Related Familial Cold Autoinflammatory Syndrome

  • Nlrc4-Related Familial Cold Urticaria

  • Autoinflammatory, Cold, Familial, Syndrome, Type 4
Glycogen Storage Disease Iv

  • Gsd Iv

  • Glycogen Branching Enzyme Deficiency

  • Andersen Disease

  • Amylopectinosis

  • Glycogen Storage Disease Type Iv

  • GSD4

  • Brancher Deficiency

  • Glycogen Storage Disease, Type Iv

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gbe1 Deficiency

  • Glycogenosis Iv

  • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

  • Glycogen Storage Disease Type 4

  • Glycogenosis 4

  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

  • Andersen'S Disease

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Brancher Deficiency Glycogenosis

  • Branching-Transferase Deficiency Glycogenosis

  • Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

  • Andersen-Tawil Syndrome

  • Gsd 4

  • Andersen Cardiodysrhythmic Periodic Paralysis

  • Lqt7

  • Long Qt Syndrome 7

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Andersen Glycogenosis

  • Branching Enzyme Deficiency

  • Glycogenosis, Type Iv

  • Gsd Type Iv

  • Type Iv Glycogenosis

  • Gbe Deficiency, Childhood Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Gsd Type 4, Childhood Neuromuscular Form

  • Gsdiv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogenosis Type 4, Childhood Neuromuscular Form

  • Glycogenosis Type Iv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gbe Deficiency, Adult Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gsd Type 4, Adult Neuromuscular Form

  • Gsdiv, Adult Neuromuscular Form

  • Glycogen Storage Disease Type 4, Adult Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Glycogenosis Type 4, Adult Neuromuscular Form

  • Glycogenosis Type Iv, Adult Neuromuscular Form

  • Gbe Deficiency, Congenital Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gsd Type 4, Congenital Neuromuscular Form

  • Gsdiv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Glycogenosis Type 4, Congenital Neuromuscular Form

  • Glycogenosis Type Iv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

  • Gsdiv, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Type 4, Fatal Perinatal Neuromuscular Form

  • Gsdiv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gbe Deficiency, Non Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gsd Type 4, Non Progressive Hepatic Form

  • Gsdiv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Glycogenosis Type 4, Non Progressive Hepatic Form

  • Glycogenosis Type Iv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gbe Deficiency, Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gsd Type 4, Progressive Hepatic Form

  • Gsdiv, Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Glycogenosis Type 4, Progressive Hepatic Form

  • Glycogenosis Type Iv, Progressive Hepatic Form

  • Glycogen Storage Disease 4

  • Gsd-Iv

  • Storage Disease, Glycogen, Type Iv
Familial Cold Autoinflammatory Syndrome 2

  • FCAS2

  • Nlrp12-Associated Hereditary Periodic Fever Syndrome

  • Familial Cold Autoinflammatory Syndrome Type 2

  • Familial Cold-Induced Autoinflammatory Syndrome Type 2

  • Naps12

  • Familial Cold Autoinflammatory Syndrome 2, Susceptibility To

  • Autoinflammatory Syndrome, Cold, Familial, Type 2
Periodic Fever, Familial, Autosomal Dominant

  • Familial Hibernian Fever

  • Tumor Necrosis Factor Receptor-Associated Periodic Syndrome

  • Traps

  • FPF

  • Tnf Receptor-Associated Periodic Fever Syndrome

  • Hibernian Fever, Familial

  • Fhf

  • Tnf Receptor-Associated Periodic Syndrome

  • Autosomal Dominant Familial Periodic Fever

  • Periodic Fever, Familial

  • Tnf Receptor 1-Associated Periodic Syndrome

  • Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome

  • Familial Periodic Fever

  • Traps Syndrome

  • Tnf Receptor Associated Periodic Syndrome

  • Caledonian Fever

  • Fever, Periodic, Familial

  • Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Brooke-Spiegler Syndrome

  • Cyld Cutaneous Syndrome

  • Spiegler-Brooke Syndrome

  • Familial Cylindromatosis

  • BRSS

  • Bss

  • Sbs

  • Multiple Familial Trichoepithelioma

  • Ancell-Spiegler Cylindromas

  • Familial Multiple Trichoepithelioma

  • Trichoepithelioma

  • Fc

  • Mft

  • Multiple Familial Trichoepitheliomas

  • Ccs

  • Turban Tumor Syndrome

  • Schilbach-Rott Syndrome

  • Eccrine Dermal Cylindroma

  • Familial Multiple Trichoepitheliomata
Immunodeficiency 33

  • IMD33

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

  • X-Linked Msmd Due To Ikbkg Deficiency

  • X-Linked Msmd Due To Nemo Deficiency

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

  • Ipd2, Formerly

  • Nf-Kappa B Essential Modulator Deficiency

  • Familial X-Linked 1 Atypical Mycobacteriosis

  • Nemo Deficiency Syndrome

  • Amcbx1

  • Familial, X-Linked, Atypical Mycobacteriosis 1

  • Ipd2

  • Recurrent Isolated Invasive Pneumococcal Disease 2

  • X-Linked Disseminated Atypical Mycobacterial Infection Type 1

  • X-Linked Immunodeficiency 33, Mycobacteriosis

  • X-Linked Susceptibility To Mycobacterial Disease Type 1

  • Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

  • Atypical Mycobacteriosis, Familial, X-Linked 1
Behcet Syndrome

  • Behcet Disease

  • Behcet'S Syndrome

  • Behcet'S Disease

  • Behçet Disease

  • Bd

  • Adamantiades-Behcet Disease

  • Triple Symptom Complex

  • Behçet'S Disease

  • Behet'S Syndrome

  • Bd Syndrome

  • Behçet Syndrome

  • Behçet'S Syndrome

  • Behcet Triple Symptom Complex

  • Malignant Aphthosis

  • Old Silk Route Disease

  • Adamantiades-Behçet Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS19070 Otulin Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS09878 OTULIN Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25560 Otulin Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta OTULIN VGNC VGNC:110447
Mus musculus OTULIN MGD MGI:3577015
Felis catus OTULIN VGNC VGNC:64004
Canis familiaris OTULIN VGNC VGNC:44192
Bos taurus OTULIN VGNC VGNC:32501
Rattus norvegicus OTULIN RGD RGD:2324500
Others OTULIN NCBI