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

USP7 - ubiquitin specific peptidase 7 Gene

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
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 K48-linked deubiquitinase activity IDA
IDA: 通过直接分析推断
25944111 GOA
enables cysteine-type deubiquitinase activity EXP
EXP: 通过实验结果推断
26235645 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
16964248 GOA
enables cysteine-type deubiquitinase activity IMP
IMP: 通过突变表型推断
11923872 GOA
enables cysteine-type endopeptidase activity IMP
IMP: 通过突变表型推断
21745816 GOA
enables deubiquitinase activity IMP
IMP: 通过突变表型推断
18410486 GOA
enables p53 binding IDA
IDA: 通过直接分析推断
20096447 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11279055 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA alkylation repair IDA
IDA: 通过直接分析推断
25944111 GOA
acts upstream of or within monoubiquitinated protein deubiquitination IDA
IDA: 通过直接分析推断
26280536 GOA
involved in negative regulation of NF-kappaB transcription factor activity IDA
IDA: 通过直接分析推断
11279055 GOA
involved in negative regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
35216969 GOA
involved in negative regulation of gene expression via chromosomal CpG island methylation IMP
IMP: 通过突变表型推断
21745816 GOA
involved in negative regulation of gluconeogenesis IDA
IDA: 通过直接分析推断
28655758 GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
26678539 GOA
involved in protein deubiquitination IDA
IDA: 通过直接分析推断
16964248 GOA
involved in protein deubiquitination IMP
IMP: 通过突变表型推断
11923872 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
21258371 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
18410486 GOA
involved in regulation of DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
16964248 GOA
involved in regulation of circadian rhythm IDA
IDA: 通过直接分析推断
27123980 GOA
involved in regulation of establishment of protein localization to telomere IDA
IDA: 通过直接分析推断
25172512 GOA
involved in regulation of protein stability IDA
IDA: 通过直接分析推断
27123980 GOA
involved in regulation of retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
26365382 GOA
involved in symbiont-mediated disruption of host cell PML body IDA
IDA: 通过直接分析推断
20719947 GOA
involved in transcription-coupled nucleotide-excision repair IMP
IMP: 通过突变表型推断
22466612 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in PML body IDA
IDA: 通过直接分析推断
20719947 GOA
located in cytosol IDA
IDA: 通过直接分析推断
11279055 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11279055 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
26678539 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

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)

  • 0
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  • 1000
  • 1102 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 7

Herpes virus-associated ubiquitin-specific protease

USP7 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
USP7 Q93009 CHEK2 Homo sapiens O96017
FPS
39009827
种属内
USP7 Q93009 PCGF2 Homo sapiens P35227 20601937
种属内
USP7 Q93009 BMI1 Homo sapiens P35226 20601937
种属间
USP7 Q93009 Mdm4 Mus musculus O35618 20697359
种属内
USP7 Q93009 TSPYL5 Homo sapiens Q86VY4 21170034
种属内
USP7 Q93009 TSPYL5 Homo sapiens Q86VY4 21170034
种属内
USP7 Q93009 TSPYL5 Homo sapiens Q86VY4
TAP
21170034
种属内
USP7 Q93009 TP53 Homo sapiens P04637 16845383
种属内
USP7 Q93009 TP53 Homo sapiens P04637 16474402
种属内
USP7 Q93009 TP53 Homo sapiens P04637
NMR
16474402
种属内
USP7 Q93009 TP53 Homo sapiens P04637
ITC
22056774
种属内
USP7 Q93009 TP53 Homo sapiens P04637
GMS
16402859
种属内
USP7 Q93009 TP53 Homo sapiens P04637 11923872
种属内
USP7 Q93009 TP53 Homo sapiens P04637 15916963
种属内
USP7 Q93009 TP53 Homo sapiens P04637 16474402
种属内
USP7 Q93009 TP53 Homo sapiens P04637
ITC
16402859
种属内
USP7 Q93009 TP53 Homo sapiens P04637 16474402
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987
GMS
16402859
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987 16474402
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987 16474402
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987 15916963
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987 16474402
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987 15916963
种属内
USP7 Q93009 MDM2 Homo sapiens Q00987
ITC
16402859
种属内
USP7 Q93009 MAL Homo sapiens P21145 21988832
种属内
USP7 Q93009 MAL Homo sapiens P21145 21988832
种属内
USP7 Q93009 MDM4 Homo sapiens O15151 15916963
种属内
USP7 Q93009 MDM4 Homo sapiens O15151 15916963
种属内
USP7 Q93009 MDM4 Homo sapiens O15151 18566590
种属内
USP7 Q93009 RB1 Homo sapiens P06400
IF
24823443
种属内
USP7 Q93009 RB1 Homo sapiens P06400 24823443
种属内
USP7 Q93009 RB1 Homo sapiens P06400 24823443
种属内
USP7 Q93009 CBX8 Homo sapiens Q9HC52 20601937
种属内
USP7 Q93009 RNF2 Homo sapiens Q99496 20601937
种属内
USP7 Q93009 RING1 Homo sapiens Q06587 26496610
种属内
USP7 Q93009 RING1 Homo sapiens Q06587 20601937
种属内
USP7 Q93009 TBCB Homo sapiens Q99426 16713569
种属内
USP7 Q93009 DAXX Homo sapiens Q9UER7 16845383
种属内
USP7 Q93009 DAXX Homo sapiens Q9UER7 18566590
种属内
USP7 Q93009 DAXX Homo sapiens Q9UER7 16845383
种属内
USP7 Q93009 MAGEE1 Homo sapiens Q9HCI5
Y2H
16713569
种属内
USP7 Q93009 MAGEE1 Homo sapiens Q9HCI5 35044719
种属内
USP7 Q93009 BCOR Homo sapiens Q6W2J9
Y2H
16713569
种属内
USP7 Q93009 BCOR Homo sapiens Q6W2J9 35271311
种属内
USP7 Q93009 BCOR Homo sapiens Q6W2J9 26496610
种属间
USP7 Q93009 vIRF-4 Human herpesvirus 8 F5H9D8
GMS
22056774
种属间
USP7 Q93009 vIRF-4 Human herpesvirus 8 F5H9D8
ITC
22056774
种属间
USP7 Q93009 vIRF-4 Human herpesvirus 8 F5H9D8
Y2H
22056774
种属间
USP7 Q93009 vIRF-4 Human herpesvirus 8 F5H9D8 22056774
种属间
USP7 Q93009 EBNA1 Epstein-Barr virus P03211
NMR
16474402
种属间
USP7 Q93009 EBNA1 Epstein-Barr virus P03211
GMS
16474402
种属间
USP7 Q93009 EBNA1 Epstein-Barr virus P03211 12783858
种属间
USP7 Q93009 EBNA1 Epstein-Barr virus P03211 16474402
种属间
USP7 Q93009 EBNA1 Epstein-Barr virus P03211 16474402
种属间: 跨种属相互作用 种属内: 同种属相互作用

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%

USP7 抗体

目录号 产品名 应用 反应物种
HY-P80926 USP7 Antibody (YA657) WB Human

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

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