1. Gene
  2. USP8 - ubiquitin specific peptidase 8 Gene

USP8 - ubiquitin specific peptidase 8 Gene

中文名称:泛素特异性肽酶 8

种属: Homo sapiens

同用名: UBPY; PITA4; SPG59; HumORF8

基因 ID: 9101 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于泛素特异性加工蛋白酶家族的蛋白质。编码的蛋白质被认为通过泛素化该细胞器上的蛋白质来调节内体的形态,并参与早期内体阶段的货物分选和膜运输。该蛋白是细胞进入细胞周期 S 期所必需的,并且还在发育中的 Hedgehog 信号通路中起正调节作用。该基因的假基因存在于 2 号和 6 号染色体上。交替剪接导致多个转录变体。[RefSeq 提供,2013 年 9 月]

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 基因产物(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
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
16520378 GOA
enables K63-linked deubiquitinase activity IDA
IDA: 通过直接分析推断
16520378 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
16520378 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15161933 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within mitotic cytokinesis IMP
IMP: 通过突变表型推断
18388320 GOA
involved in negative regulation of lysosomal protein catabolic process IMP
IMP: 通过突变表型推断
27444016 GOA
involved in positive regulation of amyloid fibril formation IMP
IMP: 通过突变表型推断
27444016 GOA
involved in positive regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
20495530 GOA
involved in protein K48-linked deubiquitination IDA
IDA: 通过直接分析推断
16520378 GOA
involved in protein K63-linked deubiquitination IDA
IDA: 通过直接分析推断
16520378 GOA
acts upstream of or within protein deubiquitination IMP
IMP: 通过突变表型推断
18388320 GOA
involved in protein deubiquitination IMP
IMP: 通过突变表型推断
27302062 GOA
involved in regulation of protein localization IMP
IMP: 通过突变表型推断
27302062 GOA
involved in regulation of protein stability IMP
IMP: 通过突变表型推断
27302062 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
18388320 GOA
is active in cytosol IDA
IDA: 通过直接分析推断
16520378 GOA
located in cytosol IDA
IDA: 通过直接分析推断
27444016 GOA
located in early endosome IDA
IDA: 通过直接分析推断
16520378 GOA
located in midbody IDA
IDA: 通过直接分析推断
18388320 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

USP8 蛋白结构

USP8_dimer

USP8_dimer: USP8 dimerisation domain (7 - 115)

Rhodanese

Rhodanese: Rhodanese-like domain (184 - 305)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (776 - 1106)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1118 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 8

deubiquitinating enzyme 8

USP8 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
USP8 P40818 CHMP1A Homo sapiens Q9HD42
Pull Down
17711858
种属内
USP8 P40818 CHMP1A Homo sapiens Q9HD42
Pull Down
19302785
种属内
USP8 P40818 CHMP4C Homo sapiens Q96CF2
Pull Down
19302785
种属内
USP8 P40818 CHMP4C Homo sapiens Q96CF2
Pull Down
17711858
种属内
USP8 P40818 CHMP1B Homo sapiens Q7LBR1
Y2H
17711858
种属内
USP8 P40818 CHMP1B Homo sapiens Q7LBR1
Pull Down
17711858
种属内
USP8 P40818 CHMP1B Homo sapiens Q7LBR1
Pull Down
19302785
种属内
USP8 P40818 YWHAZ Homo sapiens P63104
Pull Down
15161933
种属内
USP8 P40818 YWHAZ Homo sapiens P63104
CoIP
15324660
种属内
USP8 P40818 YWHAE Homo sapiens P62258
Crosslink
36931259
种属内
USP8 P40818 HIF1A Homo sapiens Q16665
Pull Down
24378640
种属内
USP8 P40818 HIF1A Homo sapiens Q16665
Anti Bait CoIP
24378640
种属内
USP8 P40818 EPAS1 Homo sapiens Q99814
Pull Down
24378640
种属内
USP8 P40818 NBR1 Homo sapiens Q14596
Y2H
19427866
种属内
USP8 P40818 NBR1 Homo sapiens Q14596
IF
19427866
种属内
USP8 P40818 NBR1 Homo sapiens Q14596
Pull Down
19427866
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

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 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