2. Gene
  3. USP45 - ubiquitin specific peptidase 45 Gene

USP45 - ubiquitin specific peptidase 45 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 45

种属: Homo sapiens

同用名: LCA19

基因 ID: 85015 | 基因类型: protein coding

关于 USP45

Cytogenetic location: 6q16.2 Genomic coordinates (GRCh38): 6:99,432,325-99,517,846 (from NCBI)

This gene has 13 transcripts (splice variants), 217 orthologues, 71 paralogues and is associated with 3 phenotypes. Ubiquitous expression in gall bladder (RPKM 1.4), small intestine (RPKM 1.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是结合 ERCC1 的去泛素化酶，ERCC1 是 XPF-ERCC1 DNA 修复核酸内切酶的催化亚基。这种核酸内切酶是 DNA 修复过程的关键调节因子，编码蛋白的去泛素化酶活性对于维持 XPF-ERCC1 的 DNA 修复能力很重要。[RefSeq 提供，2016 年 9 月]

The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair Endonuclease. This Endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]

USP45 基因产物(13)

mRNA Protein Name
NM_001080481.3 NP_001073950.1 ubiquitin carboxyl-terminal hydrolase 45 isoform a
NM_001346021.3 NP_001332950.1 ubiquitin carboxyl-terminal hydrolase 45 isoform a
NM_001346022.3 NP_001332951.1 ubiquitin carboxyl-terminal hydrolase 45 isoform a
NM_001346023.3 NP_001332952.1 ubiquitin carboxyl-terminal hydrolase 45 isoform b
NM_001346024.3 NP_001332953.1 ubiquitin carboxyl-terminal hydrolase 45 isoform c
NM_001346025.3 NP_001332954.1 ubiquitin carboxyl-terminal hydrolase 45 isoform d
NM_001346026.3 NP_001332955.1 ubiquitin carboxyl-terminal hydrolase 45 isoform e
NM_001346027.3 NP_001332956.1 ubiquitin carboxyl-terminal hydrolase 45 isoform f
NM_001346028.3 NP_001332957.1 ubiquitin carboxyl-terminal hydrolase 45 isoform f
NM_001346029.3 NP_001332958.1 ubiquitin carboxyl-terminal hydrolase 45 isoform f
NM_001346030.2 NP_001332959.1 ubiquitin carboxyl-terminal hydrolase 45 isoform g
NM_001346033.2 NP_001332962.1 ubiquitin carboxyl-terminal hydrolase 45 isoform h
NM_032929.3 NP_116318.2 ubiquitin carboxyl-terminal hydrolase 45 isoform h
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 deubiquitinase activity IMP
IMP: 通过突变表型推断
25538220 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25538220 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within DNA repair IMP
IMP: 通过突变表型推断
25538220 GOA
involved in cell migration IMP
IMP: 通过突变表型推断
30258100 GOA
acts upstream of or within protein deubiquitination IMP
IMP: 通过突变表型推断
25538220 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25538220 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25538220 GOA
located in photoreceptor inner segment IDA
IDA: 通过直接分析推断
30573563 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

USP45 蛋白结构

zf-UBP

zf-UBP: Zn-finger in ubiquitin-hydrolases and other protein (62 - 138)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (190 - 810)

  • 0
  • 200
  • 400
  • 600
  • 814 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 45

deubiquitinating enzyme 45

关联疾病

疾病名称 别名
Leber Congenital Amaurosis 19

LCA19
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15556 USP45 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus USP45 VGNC VGNC:66888
Rattus norvegicus USP45 RGD RGD:1310976
Bos taurus USP45 VGNC VGNC:52846
Macaca mulatta USP45 VGNC VGNC:79233
Mus musculus USP45 MGD MGI:101850
Canis familiaris USP45 VGNC VGNC:55015
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