1. Gene
  2. USP40 - ubiquitin specific peptidase 40 Gene

USP40 - ubiquitin specific peptidase 40 Gene

中文名称:泛素特异性肽酶 40

种属: Homo sapiens

基因 ID: 55230 | 基因类型: protein coding

关于 USP40

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,475,526-233,566,782 (from NCBI)

This gene has 17 transcripts (splice variants), 191 orthologues and 71 paralogues. Ubiquitous expression in testis (RPKM 7.5), thyroid (RPKM 6.8) and 25 other tissues.

功能概要

泛素对细胞蛋白质的修饰是一种重要的调节机制,由多种泛素结合酶和去泛素化酶的协调作用控制。 USP40 属于一大类半胱氨酸蛋白酶,可作为去泛素化酶发挥作用 (Quesada 等人,2004 年 [PubMed 14715245]) 。[OMIM 提供,2008 年 3 月]

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating Enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating Enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

USP40 基因产物(11)

mRNA Protein Name
NM_001365479.2 NP_001352408.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 1
NM_001382295.1 NP_001369224.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 1
NM_001382296.1 NP_001369225.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 3
NM_001382297.1 NP_001369226.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 4
NM_001382298.1 NP_001369227.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 5
NM_001382299.1 NP_001369228.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 6
NM_001382300.1 NP_001369229.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 7
NM_001382301.1 NP_001369230.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 8
NM_001382302.1 NP_001369231.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 9
NM_001382303.1 NP_001369232.1 ubiquitin carboxyl-terminal hydrolase 40 isoform 10
NM_018218.4 NP_060688.2 ubiquitin carboxyl-terminal hydrolase 40 isoform 2

USP40 蛋白结构

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (41 - 323)

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  • 1235 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 40

deubiquitinating enzyme 40

关联疾病

疾病名称 别名
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Bos taurus USP40 VGNC VGNC:52845
Mus musculus USP40 MGD MGI:2443184
Macaca mulatta USP40 VGNC VGNC:79226
Rattus norvegicus USP40 RGD RGD:1309613