2. Gene
  3. OTULIN - OTU deubiquitinase with linear linkage specificity Gene

OTULIN - OTU deubiquitinase with linear linkage specificity Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GUM; AIPDS; IMD107; FAM105B

Gene ID: 90268 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09878 OTULIN Human Pre-designed siRNA Set A Pre-designed Sets / 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