USP8 - ubiquitin specific peptidase 8 Gene

Homo sapiens

Also known as UBPY; PITA4; SPG59; HumORF8

Gene ID: 9101 | Gene type: protein coding

About USP8

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,424,405-50,514,421 (from NCBI)

This gene has 19 transcripts (splice variants), 202 orthologues, 71 paralogues and is associated with 81 phenotypes. Ubiquitous expression in testis (RPKM 16.5), thyroid (RPKM 12.8) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the ubiquitin-specific processing Protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USP8 Products(3)

mRNA	Protein	Name
NM_001128610.3	NP_001122082.1	ubiquitin carboxyl-terminal hydrolase 8 isoform a
NM_001283049.2	NP_001269978.1	ubiquitin carboxyl-terminal hydrolase 8 isoform b
NM_005154.5	NP_005145.3	ubiquitin carboxyl-terminal hydrolase 8 isoform a

USP8 Protein Structure

USP8_dimer

Rhodanese

UCH

0
200
400
600
800
1000
1118 a.a.

Protein Preferred Names

Protein Names

ubiquitin carboxyl-terminal hydrolase 8

deubiquitinating enzyme 8

Related Diseases

Diseases

Alias

Pituitary Adenoma 4, Acth-Secreting

PITA4	Cushing Disease, Pituitary
Pituitary Adenoma 4, Acth-Secreting, Somatic	Cushing Disease
Pituitary Cushing Disease	Adenoma, Pituitary, Acth-Secreting, Type 4
Pituitary-Dependent Cushing'S Disease

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

Autosomal Recessive Spastic Paraplegia Type 59

Spg59

Acth-Dependent Cushing Syndrome

Acth-Dependent Cs	Adrenocorticotropic Hormone-Dependent Cushing Syndrome
Corticotropin-Dependent Cushing Syndrome

Adenoma

Acinar Cell Adenoma	Adenomas
Acinic Cell Adenoma

Acth-Secreting Pituitary Adenoma

Acth-Producing Pituitary Adenoma	Corticotroph Adenoma
Corticotropinoma	Pituitary-Dependent Cushing'S Disease
Adrenal Gland Hyperfunction	Cushing Syndrome

Pituitary Cancer

Pituitary Carcinoma	Malignant Pituitary Neoplasm
Malignant Tumor Of Pituitary Gland	Neoplasm Of Pituitary Gland
Pituitary Gland Cancer	Pituitary Gland Neoplasm
Pituitary Neoplasm	Carcinoma Of The Pituitary Gland
Neoplasm Of The Pituitary Gland	Pituitary Neoplasms
Malignant Neoplasm Of Pituitary Gland

Functioning Pituitary Adenoma

Secretory Adenoma Of The Pituitary Gland	Endocrine Active Pituitary Adenoma
Secreting Pituitary Adenoma	Pituitary Adenoma, Functioning

Pituitary Adenoma 3, Multiple Types

PITA3	Pituitary Adenoma 3, Multiple Types, Somatic
Pituitary Adenoma 3

Nelson Syndrome

Nelson'S Syndrome	Dermal Ridges
Ridges-Off-The-End Syndrome	Postadrenalectomy Cushing Syndrome

Pituitary Adenoma

Adenoma Of The Pituitary Gland	Pituitary Adenomas
Adenoma, Pituitary	Pituitary Gland Adenoma
Pituitary Neoplasms

Dicer1 Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome	Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome
Ppb Familial Tumor Susceptibility Syndrome	Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility	Dicer1-Related Pleuropulmonary Blastoma
Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome	Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome
Ppbftds	Doid:0081063

Pituitary Adenoma 2, Growth Hormone-Secreting

PITA2	Acromegaly Due To Pituitary Adenoma 2
Acromegaly, X-Linked	Growth Hormone Secreting Pituitary Adenoma 2
Pituitary Adenoma, Growth Hormone-Secreting, 2	Pituitary Adenoma 2, Gh-Secreting
Gh-Secreting Pituitary Adenoma 2	X-Linked Acromegaly
Adenoma, Pituitary, Growth Hormone-Secreting, Type 2

Pituitary Adenoma 5, Multiple Types

PITA5	Pituitary Adenoma 5
{Pituitary Adenoma 5, Multiple Types}

Pituitary-Dependent Cushing'S Disease

Pituitary-Dependent Cushing Disease	Pituitary Acth Hypersecretion
Overproduction Of Acth	Pituitary-Dependent Cushings Disease
Overproduction Of Pituitary Acth	Pituitary-Dependent Hyperadrenocorticism
Corticotroph Pituitary Adenoma	Acth- [Adrenocorticotropic Hormone] Secreting Pituitary Adenoma
Cushing Syndrome Or Disease, Pituitary-Dependent	Cushings Basophilism
Cushing'S Syndrome 3	Itsenko-Cushing Syndrome
Itsenko Disease	Pituitary Basophilism
Pituitary-Dependent Hypercorticalism	Suprarenogenic Syndrome
Cushing Disease	Cushing'S Disease

Tsh Producing Pituitary Tumor

Thyrotroph Adenoma	Tsh Producing Pituitary Tumour
Tsh Secreting Adenoma Of The Pituitary	Tsh Secreting Tumor Of Pituitary
Tsh Secreting Tumour Of Pituitary	Tsh-Secreting Pituitary Adenoma
Pituitary Thyrotrophic Adenoma	Tsh-Oma
Thyroid Stimulating Hormone-Secreting Pituitary Adenoma	Thyroid Stimulating Hormone-Producing Pituitary Tumor

Papillary Craniopharyngioma

Craniopharyngioma, Papillary	Papillary Rathke'S Pouch Tumor
Craniopharyngioma Papillary

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

Multiple Endocrine Neoplasia, Type Iv

Multiple Endocrine Neoplasia Type 4	MEN4
Multiple Endocrine Neoplasia 4	Neoplasia, Endocrine, Multiple, Type Iv

Carney Complex Variant

Carney Complex	Carney Syndrome
Carney Complex, Type 1	Lamb Syndrome
Name Syndrome	Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome
Carney Complex - Trismus - Pseudocamptodactyly Syndrome	Carney Complex, Type 2
Car	Cnc1
Carney Myxoma-Endocrine Complex	Myxoma - Spotty Pigmentation - Endocrine Overactivity
Myxoma, Spotty Pigmentation, And Endocrine Overactivity	Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome	Carney Complex-Trismus-Pseudocamptodactyly Syndrome
CACOV

Hormone Producing Pituitary Cancer

Growth Hormone Producing Pituitary Tumor	Pituitary Tumors, Hormone Producing
Somatotropinoma	Growth Hormone-Producing Pituitary Gland Neoplasm

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

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

Growth Hormone Secreting Pituitary Adenoma

Somatotroph Adenoma	Growth Hormone-Secreting Pituitary Adenoma
Growth Hormone Producing Adenoma Of The Pituitary	Growth Hormone Secreting Adenoma Of Pituitary

Pituitary Gland Disease

Pituitary Diseases	Pituitary Dysfunction
Pituitary Disease	Pituitary Deficiency
Pituitary Disorders

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Mccune-Albright Syndrome

Mass Syndrome	Polyostotic Fibrous Dysplasia
MAS	Fibrous Dysplasia Of Bone
Albright Syndrome	Mass Phenotype
Overlap Connective Tissue Disease	Mccune Albright Syndrome
Osteitis Fibrosa Disseminata	OCTD
Albright'S Disease	Pfd
Pofd	Albright'S Syndrome
Mccune-Albright Syndrome, Somatic, Mosaic	Albright'S Disease Of Bone
Albright'S Syndrome With Precocious Puberty	Albright-Mccune-Sternberg Syndrome
Albright-Sternberg Syndrome	Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty
Gonadotropin-Independent Female-Limited Sexual Precocity	Fibrous Dysplasia Polyostotic
Fibrous Dysplasia, Polyostotic

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-151563A	OTUB1/USP8-IN-1 TFA	Inhibitor	99.56%	Unkown
HY-149902	USP8-IN-3	Inhibitor	99.17%	Unkown
HY-149901	USP8-IN-2	Inhibitor	99.91%	Unkown
HY-162312	LLK203	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	USP8	VGNC	VGNC:48205
Macaca mulatta	USP8	VGNC	VGNC:78748
Felis catus	USP8	VGNC	VGNC:80811
Rattus norvegicus	USP8	RGD	RGD:1304979
Bos taurus	USP8	VGNC	VGNC:36739
Mus musculus	USP8	MGD	MGI:1934029
Others	USP8	NCBI

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