USP7 - ubiquitin specific peptidase 7 Gene

Homo sapiens

Also known as TEF1; HAUSP; HAFOUS

Gene ID: 7874 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables K48-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	25944111	GOA
enables cysteine-type deubiquitinase activity	EXP EXP: Inferred from Experiment	26235645	GOA
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	16964248	GOA
enables cysteine-type deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	11923872	GOA
enables cysteine-type endopeptidase activity	IMP IMP: Inferred from mutant phenotype	21745816	GOA
enables deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	18410486	GOA
enables p53 binding	IDA IDA: Inferred from direct assay	20096447	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11279055	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA alkylation repair	IDA IDA: Inferred from direct assay	25944111	GOA
acts upstream of or within monoubiquitinated protein deubiquitination	IDA IDA: Inferred from direct assay	26280536	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	11279055	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	35216969	GOA
involved in negative regulation of gene expression via chromosomal CpG island methylation	IMP IMP: Inferred from mutant phenotype	21745816	GOA
involved in negative regulation of gluconeogenesis	IDA IDA: Inferred from direct assay	28655758	GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	26678539	GOA
involved in protein deubiquitination	IDA IDA: Inferred from direct assay	16964248	GOA
involved in protein deubiquitination	IMP IMP: Inferred from mutant phenotype	11923872	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	21258371	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	18410486	GOA
involved in regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	16964248	GOA
involved in regulation of circadian rhythm	IDA IDA: Inferred from direct assay	27123980	GOA
involved in regulation of establishment of protein localization to telomere	IDA IDA: Inferred from direct assay	25172512	GOA
involved in regulation of protein stability	IDA IDA: Inferred from direct assay	27123980	GOA
involved in regulation of retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	26365382	GOA
involved in symbiont-mediated disruption of host cell PML body	IDA IDA: Inferred from direct assay	20719947	GOA
involved in transcription-coupled nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	22466612	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in PML body	IDA IDA: Inferred from direct assay	20719947	GOA
located in cytosol	IDA IDA: Inferred from direct assay	11279055	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11279055	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	26678539	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP7 Protein Structure

MATH

UCH

USP7_ICP0_bdg

USP7_C2

0
200
400
600
800
1000
1102 a.a.

Protein Preferred Names

Protein Names

ubiquitin carboxyl-terminal hydrolase 7

Herpes virus-associated ubiquitin-specific protease

Recombinant USP7 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74478	USP7 Protein, Human (sf9)	Q93009 (K208-E560)	≥95%

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101666	HBX 41108	Inhibitor	99.61%	Unkown
HY-148369	U7D-1	Inhibitor	99.65%	Unkown
HY-136910	USP7-797	Inhibitor	97.53%	Unkown
HY-158039	YCH2823	Inhibitor	99.35%	Unkown
HY-162794	YCH3124	Inhibitor	/	Unkown
HY-153942	USP7-IN-12	Inhibitor	/	Unkown
HY-159175	XM-U-14	Degrader	/	Unkown
HY-124739	HBX 28258	Inhibitor	/	Unkown
HY-164544	USP7-055	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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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