1. Gene
  2. USP30 - ubiquitin specific peptidase 30 Gene

USP30 - ubiquitin specific peptidase 30 Gene

中文名称:泛素特异性肽酶 30

种属: Homo sapiens

基因 ID: 84749 | 基因类型: protein coding

关于 USP30

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,023,089-109,088,023 (from NCBI)

This gene has 10 transcripts (splice variants), 197 orthologues and 71 paralogues. Ubiquitous expression in testis (RPKM 5.7), ovary (RPKM 5.5) and 25 other tissues.

功能概要

USP30 是泛素特异性蛋白酶家族的成员 (参见 USP1,MIM 603478) ,是一种新型线粒体去泛素化 (DUB) 酶 (Nakamura 和 Hirose,2008 [PubMed 18287522]) 。[OMIM 提供,2008 年 12 月]

USP30, a member of the Ubiquitin-Specific Protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) Enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]

USP30 基因产物(2)

mRNA Protein Name
NM_001301175.2 NP_001288104.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 2
NM_032663.5 NP_116052.2 ubiquitin carboxyl-terminal hydrolase 30 isoform 1
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 cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
14715245 GOA
enables cysteine-type endopeptidase activity IMP
IMP: 通过突变表型推断
24896179 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagy of mitochondrion IDA
IDA: 通过直接分析推断
25621951 GOA
involved in autophagy of mitochondrion IMP
IMP: 通过突变表型推断
24896179 GOA
involved in protein K11-linked deubiquitination IDA
IDA: 通过直接分析推断
25621951 GOA
involved in protein K6-linked deubiquitination IDA
IDA: 通过直接分析推断
25621951 GOA
involved in protein deubiquitination IDA
IDA: 通过直接分析推断
24896179 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
24896179 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

USP30 蛋白结构

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (69 - 499)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 30

deubiquitinating enzyme 30

USP30 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
USP30 Q70CQ3 RHBDD2 Homo sapiens Q6NTF9-3 32296183
种属内
USP30 Q70CQ3 RHBDD2 Homo sapiens Q6NTF9-3 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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 USP30 VGNC VGNC:52974
Rattus norvegicus USP30 RGD RGD:1307949
Bos taurus USP30 VGNC VGNC:53928
Felis catus USP30 VGNC VGNC:66878
Mus musculus USP30 MGD MGI:2140991
Macaca mulatta USP30 VGNC VGNC:79222
Others USP30 NCBI