2. Gene
  3. USP18 - ubiquitin specific peptidase 18 Gene

USP18 - ubiquitin specific peptidase 18 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：泛素特异性肽酶 18

种属: Homo sapiens

同用名: ISG43; UBP43; PTORCH2

基因 ID: 11274 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质属于泛素特异性蛋白酶 (UBP) 酶家族，可将泛素从泛素化的蛋白质底物上切割下来。它在肝脏和胸腺中高度表达，并定位于细胞核。该蛋白仅有效切割 ISG15 (一种泛素样蛋白) 融合体，小鼠中该基因的缺失导致组织中 ISG15 结合物大量增加，表明该蛋白是一种主要的 ISG15 特异性蛋白酶。缺乏该基因的小鼠也对干扰素过敏，表明该蛋白在下调干扰素反应方面的功能与其对 ISG15 的异肽酶活性无关。[RefSeq 提供，2011 年 9 月]

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 基因产物(1)

mRNA Protein Name
NM_017414.4 NP_059110.2 ubl carboxyl-terminal hydrolase 18
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ISG15-specific peptidase activity EXP
EXP: 通过实验结果推断
11788588 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
27801882 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antiviral innate immune response IDA
IDA: 通过直接分析推断
27801882 GOA
involved in negative regulation of type I interferon-mediated signaling pathway IDA
IDA: 通过直接分析推断
28165510 GOA
involved in regulation of inflammatory response IMP
IMP: 通过突变表型推断
27325888 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

USP18 蛋白结构

UCH

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

  • 0
  • 100
  • 200
  • 300
  • 372 a.a.
蛋白主名 其他名称

ubl carboxyl-terminal hydrolase 18

43 kDa ISG15-specific protease

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-111458 GSK2643943A Inhibitor 99.12% 否
HY-RS15528 USP18 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus USP18 RGD RGD:1359153
Mus musculus USP18 MGD MGI:1344364
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