2. Gene
  3. USP27X - ubiquitin specific peptidase 27 X-linked Gene

USP27X - ubiquitin specific peptidase 27 X-linked 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 27 X-连锁

种属: Homo sapiens

同用名: USP27; MRX105; USP22L; XLID105

基因 ID: 389856 | 基因类型: protein coding

关于 USP27X

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,879,484-49,882,558 (from NCBI)

This gene has 1 transcript (splice variant), 78 orthologues, 71 paralogues and is associated with 3 phenotypes.

功能概要

该基因编码肽酶蛋白家族的一个成员。编码的蛋白质起着去泛素化酶的作用，参与促凋亡 Bim 蛋白的上调。这种蛋白质可以通过增加 Bim 的水平来抵消癌细胞中的抗凋亡信号，从而充当肿瘤抑制因子。该基因的突变与 X 连锁认知障碍有关。[RefSeq 提供，2016 年 12 月]

This gene encodes a member of the peptidase protein family. The encoded protein functions as a Deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in Cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]

USP27X 基因产物(1)

mRNA Protein Name
NM_001145073.3 NP_001138545.1 ubiquitin carboxyl-terminal hydrolase 27
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cysteine-type endopeptidase activity IDA
IDA: 通过直接分析推断
31534008 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to virus IMP
IMP: 通过突变表型推断
31534008 GOA
involved in positive regulation of type I interferon-mediated signaling pathway IDA
IDA: 通过直接分析推断
31534008 GOA
involved in protein K48-linked deubiquitination IDA
IDA: 通过直接分析推断
31534008 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
31534008 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

USP27X 蛋白结构

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (78 - 418)

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

ubiquitin carboxyl-terminal hydrolase 27

X-linked ubiquitin carboxyl-terminal hydrolase 27

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 105

XLID105

Mrx105

Mental Retardation, X-Linked 105

Mental Retardation, X-Linked, Type 105
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 99

Mrx99

X-Linked Mental Retardation 99
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

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-RS15537 USP27X Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus USP27X MGD MGI:1859645
Bos taurus USP27X VGNC VGNC:56956
Rattus norvegicus USP27X RGD RGD:1564628
Others USP27X NCBI
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