2. Gene
  3. USP7 - ubiquitin specific peptidase 7 Gene

USP7 - ubiquitin specific peptidase 7 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 7

种属: Homo sapiens

同用名: TEF1; HAUSP; HAFOUS

基因 ID: 7874 | 基因类型: protein coding

关于 USP7

Cytogenetic location: 16p13.2 Genomic coordinates (GRCh38): 16:8,892,097-8,963,906 (from NCBI)

This gene has 23 transcripts (splice variants), 209 orthologues, 71 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 31.0), lymph node (RPKM 24.1) and 25 other tissues.

功能概要

该基因编码的蛋白质属于肽酶 C19 家族，其中包括泛素水解酶。这种蛋白质去泛素化目标蛋白质，如 p53 (一种肿瘤抑制蛋白) 和 WASH (内体蛋白质回收所必需的) ，并通过抵消参与相应过程的蛋白质 (如 HDM2 和 TRIM27) 的相反泛素连接酶活性来调节它们的活动。该基因的突变与神经发育障碍有关。[RefSeq 提供，2016 年 3 月]

The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin Ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]

USP7 基因产物(4)

mRNA Protein Name
NM_001286457.2 NP_001273386.2 ubiquitin carboxyl-terminal hydrolase 7 isoform 2
NM_001286458.2 NP_001273387.1 ubiquitin carboxyl-terminal hydrolase 7 isoform 3
NM_001321858.2 NP_001308787.1 ubiquitin carboxyl-terminal hydrolase 7 isoform 4
NM_003470.3 NP_003461.2 ubiquitin carboxyl-terminal hydrolase 7 isoform 1

USP7 蛋白结构

MATH

MATH: MATH domain (78 - 195)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (213 - 518)

USP7_ICP0_bdg

USP7_ICP0_bdg: ICP0-binding domain of Ubiquitin-specific protease 7 (619 - 865)

USP7_C2

USP7_C2: Ubiquitin-specific protease C-terminal (874 - 1088)

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  • 1102 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 7

Herpes virus-associated ubiquitin-specific protease

重组 USP7 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74478 USP7 Protein, Human (sf9) Q93009 (K208-E560) ≥95%

关联疾病

疾病名称 别名
Hao-Fountain Syndrome

HAFOUS

Intellectual Developmental Disorder With Impaired Speech, Behavioral Abnormalities, And Dysmorphic Facies

16p13.2 Microdeletion Syndrome

Del(16)(P13.2)

Monosomy 16p13.2
Hypotonia
Fountain Syndrome

Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips

Deafness, Skeletal Dysplasia, Lip Granuloma

Intellectual Disability, Deafness, Skeletal Abnormalities, Coarse Face With Full Lips

Deafness-Skeletal Dysplasia-Coarse Face With Full Lips Syndrome

Deafness-Skeletal Dysplasia-Lip Granuloma Syndrome

Hearing Loss-Skeletal Dysplasia-Coarse Face With Full Lips Syndrome

Hearing Loss-Skeletal Dysplasia-Lip Granuloma Syndrome
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs
Schaaf-Yang Syndrome

Prader-Willi-Like Syndrome

Chitayat-Hall Syndrome

SHFYNG

Pwls

Magel2-Related Prader-Willi-Like Syndrome

Magel2-Related Pwls

Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies

Pws Due To A Point Mutation

Pws Due To Point Mutation

Prader-Willi Syndrome Due To A Point Mutation

Prader-Willi Syndrome Due To Point Mutation

Pws-Like
Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation

Severe Neonatal-Onset Encephalopathy With Microcephaly

Encephalopathy, Neonatal Severe

Neonatal Severe Encephalopathy Due To Mecp2 Mutations

Mecp2-Related Severe Neonatal Encephalopathy

Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy

Severe Neonatal Encephalopathy Due To Mecp2 Mutations

ENS-MECP2

Encephalopathy, Neonatal, Severe
Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-101666 HBX 41108 Inhibitor 99.61% 否
HY-148369 U7D-1 Inhibitor 99.65% 否
HY-158039 YCH2823 Inhibitor 99.35% 否
HY-162794 YCH3124 Inhibitor / 否
HY-159175 XM-U-14 Degrader / 否
HY-153942 USP7-IN-12 Inhibitor / 否
HY-164544 USP7-055 Inhibitor / 否
HY-124739 HBX 28258 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris USP7 VGNC VGNC:54088
Rattus norvegicus USP7 RGD RGD:1306915
Felis catus USP7 VGNC VGNC:66898
Mus musculus USP7 MGD MGI:2182061
Macaca mulatta USP7 VGNC VGNC:99627
Bos taurus USP7 VGNC VGNC:36738
Others USP7 NCBI
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