1. Gene
  2. USP20 - ubiquitin specific peptidase 20 Gene

USP20 - ubiquitin specific peptidase 20 Gene

中文名称:泛素特异性肽酶 20

种属: Homo sapiens

同用名: VDU2; hVDU2; LSFR3A

基因 ID: 10868 | 基因类型: protein coding

关于 USP20

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,835,458-129,881,828 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 71 paralogues. Ubiquitous expression in lymph node (RPKM 8.9), bone marrow (RPKM 8.3) and 25 other tissues.

功能概要

该基因编码一种泛素特异性加工蛋白酶,该蛋白酶最初被鉴定为 VHL (冯希佩尔-林道病) 蛋白 E3 泛素连接酶复合物的底物。除了被 VHL-E3 连接酶复合物泛素化外,这种酶去泛素化缺氧诱导因子 (HIF) -1 α,从而导致 HIF-1alpha 靶向基因的表达增加,这些基因在血管生成、葡萄糖代谢、细胞增殖和转移。由该基因编码的酶还通过介导 β2 肾上腺素能受体 (ADRB2) 的去泛素化来调节 G 蛋白偶联受体信号。这种酶是一种普遍表达的硫酯水解酶。可变剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供,2013 年 1 月]

This gene encodes a ubiquitin specific processing Protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin Ligase complex. In addition to being ubiquitinated by the VHL-E3 Ligase complex, this Enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The Enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 Adrenergic Receptor (ADRB2). This Enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]

USP20 基因产物(3)

mRNA Protein Name
NM_001008563.5 NP_001008563.2 ubiquitin carboxyl-terminal hydrolase 20
NM_001110303.4 NP_001103773.2 ubiquitin carboxyl-terminal hydrolase 20
NM_006676.8 NP_006667.3 ubiquitin carboxyl-terminal hydrolase 20
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables G protein-coupled receptor binding IPI
IPI: 通过物理相互作用推断
19424180 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
19424180 GOA
enables cysteine-type endopeptidase activity IMP
IMP: 通过突变表型推断
19424180 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19615732 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 canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
26839314 GOA
involved in positive regulation of autophagy IDA
IDA: 通过直接分析推断
29487085 GOA
involved in protein K48-linked deubiquitination IDA
IDA: 通过直接分析推断
19424180 GOA
involved in protein K63-linked deubiquitination IDA
IDA: 通过直接分析推断
19424180 GOA
involved in protein deubiquitination IDA
IDA: 通过直接分析推断
19424180 GOA
involved in regulation of G protein-coupled receptor signaling pathway IMP
IMP: 通过突变表型推断
19424180 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
23486064 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

USP20 蛋白结构

zf-UBP

zf-UBP: Zn-finger in ubiquitin-hydrolases and other protein (30 - 91)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (145 - 682)

DUSP

DUSP: DUSP domain (817 - 888)

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  • 914 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 20

deubiquitinating enzyme 20

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

Torch Syndrome
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris USP20 VGNC VGNC:48182
Rattus norvegicus USP20 RGD RGD:1305621
Felis catus USP20 VGNC VGNC:66872
Macaca mulatta USP20 VGNC VGNC:78740
Bos taurus USP20 VGNC VGNC:36715
Mus musculus USP20 MGD MGI:1921520