USP18 - ubiquitin specific peptidase 18 Gene

Also Known as ISG43; UBP43; PTORCH2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 11274

About USP18

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:18,150,170-18,177,397 (from NCBI)

This gene has 4 transcripts (splice variants), 121 orthologues, 71 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 6.5), spleen (RPKM 6.3) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of Enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]

USP18 Products (1)

mRNA Protein Name
NM_017414.4 NP_059110.2 ubl carboxyl-terminal hydrolase 18

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence 参考文献 由来
enables ISG15-specific peptidase activity EXP
EXP: Inferred from Experiment
11788588 GOA
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
27801882 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in antiviral innate immune response IDA
IDA: Inferred from direct assay
27801882 GOA
involved in negative regulation of type I interferon-mediated signaling pathway IDA
IDA: Inferred from direct assay
28165510 GOA
involved in regulation of inflammatory response IMP
IMP: Inferred from mutant phenotype
27325888 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

USP18 Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (55 - 367)

  • 0
  • 100
  • 200
  • 300
  • 372 a.a.
Protein Preferred Names Protein Names

ubl carboxyl-terminal hydrolase 18

  • 43 kDa ISG15-specific protease

USP18 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
USP18 Q9UMW8 ISG15 Homo sapiens P05161
Y2H Prey Pooling
25416956
Intra
USP18 Q9UMW8 ISG15 Homo sapiens P05161
Y2H Prey Pooling
32296183
Intra
USP18 Q9UMW8 ISG15 Homo sapiens P05161
Anti Bait CoIP
25307056
Intra
USP18 Q9UMW8 ISG15 Homo sapiens P05161
Y2H Array
32296183
Intra
USP18 Q9UMW8 IFNAR2 Homo sapiens P48551
Anti Tag CoIP
16710296
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Pseudo-Torch Syndrome 2

  • PTORCH2

  • Usp18 Deficiency
Torch Syndrome
Immunodeficiency 38 With Basal Ganglia Calcification

  • Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Isg15 Deficiency

  • IMD38

  • Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive

  • Immunodeficiency 38

  • Isg15 Deficiency, Autosomal Recessive

  • Immunodeficiency 38, With Basal Ganglia Calcification

  • Autosomal Recessive Isg15 Deficiency

  • Msmd Due To Complete Isg15 Deficiency

  • Immunodeficiency, Type 38
Immunodeficiency 44

  • IMD44
Tuberculous Salpingitis
Aicardi-Goutieres Syndrome

  • Aicardi Goutieres Syndrome

  • Cree Encephalitis

  • Aicardi-Goutières Syndrome

  • Encephalopathy With Basal Ganglia Calcification

  • Ags

  • Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

  • Pseudotoxoplasmosis Syndrome

  • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

  • Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

  • Aicardi-Goutieres Syndrome 1
Acute Promyelocytic Leukemia

  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic
Basal Ganglia Calcification

  • Fahr'S Syndrome

  • Fahr'S Disease

  • Fahr Disease
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Crv

  • Rvcl

  • Rvcl-S

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy

  • Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

  • Retinal Vasculopathy With Cerebral Leukodystrophy

  • Retinal Vasculopathy And Cerebral Leukoencephalopathy

  • Hereditary Vascular Retinopathy

  • Hvr

  • RVCLS

  • Cerebroretinal Vasculopathy, Hereditary

  • Cerebroretinal Vasculopathy

  • Herns

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

  • Hereditary Cerebroretinal Vasculopathy

  • Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

  • Hereditary Systemic Angiopathy

  • Hsa

  • Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

  • Adrvcl

  • Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

  • Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

  • Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Chilblain Lupus 1

  • Chilblain Lupus

  • CHBL1

  • Chilblain Lupus Erythematosus

  • Chle

  • Hutchinson Lupus

  • Chilblain Lupus, Type 1
Thrombocytopenia

  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos
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 (5)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-172969 ZHAWOC8655 Inhibitor 98.63% Unkown
HY-111458 GSK2643943A Inhibitor 98.79% Unkown
HY-RS17777 Usp18 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS15528 USP18 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24244 Usp18 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus USP18 RGD RGD:1359153
Mus musculus USP18 MGD MGI:1344364
Others USP18 NCBI