1. Gene
  2. USP19 - ubiquitin specific peptidase 19 Gene

USP19 - ubiquitin specific peptidase 19 Gene

中文名称:泛素特异性肽酶 19

种属: Homo sapiens

同用名: ZMYND9

基因 ID: 10869 | 基因类型: protein coding

关于 USP19

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,108,050-49,120,823 (from NCBI)

This gene has 14 transcripts (splice variants), 202 orthologues and 71 paralogues. Ubiquitous expression in testis (RPKM 12.9), thyroid (RPKM 11.3) and 25 other tissues.

功能概要

蛋白质泛素化控制许多细胞内过程,包括细胞周期进程、转录激活和信号转导。这个动态过程涉及泛素结合酶和去泛素化酶,添加和去除泛素。去泛素化酶是半胱氨酸蛋白酶,可特异性地从泛素缀合的蛋白质底物上切割泛素。这种蛋白质是一种泛素蛋白连接酶,在肌肉萎缩中发挥作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2017 年 5 月]

Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating Enzymes and deubiquitinating Enzymes, adds and removes ubiquitin. Deubiquitinating Enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein Ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

USP19 基因产物(40)

mRNA Protein Name
NM_001199160.2 NP_001186089.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 1
NM_001199161.2 NP_001186090.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 2
NM_001199162.2 NP_001186091.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 3
NM_001351098.2 NP_001338027.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 5
NM_001351099.2 NP_001338028.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 6
NM_001351100.2 NP_001338029.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 7
NM_001351101.2 NP_001338030.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 8
NM_001351102.2 NP_001338031.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 9
NM_001351103.2 NP_001338032.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 10
NM_001351104.2 NP_001338033.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 11
NM_001351105.2 NP_001338034.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 12
NM_001351106.2 NP_001338035.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 13
NM_001351107.2 NP_001338036.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 14
NM_001351108.2 NP_001338037.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 15
NM_001389594.1 NP_001376523.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 16
NM_001389595.1 NP_001376524.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 17
NM_001389596.1 NP_001376525.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 18
NM_001389597.1 NP_001376526.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 19
NM_001389598.1 NP_001376527.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 20
NM_001389599.1 NP_001376528.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 21
NM_001389600.1 NP_001376529.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 22
NM_001389601.1 NP_001376530.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 23
NM_001389602.1 NP_001376531.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 24
NM_001389603.1 NP_001376532.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 25
NM_001389604.1 NP_001376533.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 26
NM_001389605.1 NP_001376534.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 27
NM_001389606.1 NP_001376535.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 28
NM_001389607.1 NP_001376536.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 29
NM_001389608.1 NP_001376537.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 30
NM_001400288.1 NP_001387217.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 16
NM_001400290.1 NP_001387219.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 36
NM_001400292.1 NP_001387221.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 2
NM_001400293.1 NP_001387222.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 20
NM_001400294.1 NP_001387223.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 31
NM_001400295.1 NP_001387224.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 32
NM_001400296.1 NP_001387225.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 33
NM_001400297.1 NP_001387226.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 14
NM_001400298.1 NP_001387227.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 34
NM_001400299.1 NP_001387228.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 35
NM_006677.3 NP_006668.1 ubiquitin carboxyl-terminal hydrolase 19 isoform 4
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 Hsp90 protein binding IDA
IDA: 通过直接分析推断
24356957 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
19465887 GOA
enables cysteine-type deubiquitinase activity IMP
IMP: 通过突变表型推断
24356957 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19465887 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IDA
IDA: 通过直接分析推断
19465887 GOA
involved in protein deubiquitination IMP
IMP: 通过突变表型推断
24356957 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
25088257 GOA
involved in regulation of ERAD pathway IMP
IMP: 通过突变表型推断
25088257 GOA
involved in regulation of cellular response to hypoxia IMP
IMP: 通过突变表型推断
22128162 GOA
involved in response to endoplasmic reticulum stress IEP
IEP: 通过表达模式推断
19465887 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
24356957 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
19465887 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

USP19 蛋白结构

CS

CS: CS domain (119 - 191)

CS

CS: CS domain (287 - 374)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (497 - 1211)

zf-MYND

zf-MYND: MYND finger (791 - 833)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1318 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 19

deubiquitinating enzyme 19

关联疾病

疾病名称 别名
Pitt-Hopkins-Like Syndrome 2

PTHSL2

Mesh

D006985

Mesh

D008607

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

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
Mus musculus USP19 MGD MGI:1918722
Felis catus USP19 VGNC VGNC:66871
Canis familiaris USP19 VGNC VGNC:48181
Bos taurus USP19 VGNC VGNC:36714
Macaca mulatta USP19 VGNC VGNC:78739
Rattus norvegicus USP19 RGD RGD:1303276