1. Gene
  2. USP6 - ubiquitin specific peptidase 6 Gene

USP6 - ubiquitin specific peptidase 6 Gene

中文名称:泛素特异性肽酶 6

种属: Homo sapiens

同用名: HRP1; TRE2; TRE17; Tre-2; TRESMCR; USP6-short

基因 ID: 9098 | 基因类型: protein coding

关于 USP6

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,116,032-5,174,991 (from NCBI)

This gene has 6 transcripts (splice variants), 226 orthologues, 71 paralogues and is associated with 93 phenotypes. Biased expression in testis (RPKM 9.4), ovary (RPKM 2.5) and 9 other tissues.

功能概要

启用硫醇依赖性去泛素化酶。参与蛋白质去泛素化和囊泡介导的转运调节。位于质膜和循环核内体。 [由基因组资源联盟提供,2022 年 4 月]

Enables thiol-dependent Deubiquitinase. Involved in protein deubiquitination and regulation of vesicle-mediated transport. Located in plasma membrane and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022]

USP6 基因产物(2)

mRNA Protein Name
NM_001304284.2 NP_001291213.1 ubiquitin carboxyl-terminal hydrolase 6
NM_004505.4 NP_004496.2 ubiquitin carboxyl-terminal hydrolase 6

USP6 蛋白结构

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (104 - 312)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (532 - 1366)

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  • 1406 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 6

TBC1D3 and USP32 fusion

关联疾病

疾病名称 别名
Pseudosarcomatous Fibromatosis

Nodular Fasciitis

Pseudosarcomatous Fasciitis

Fasciitis - Nodular

Fasciitis Nodular

Fasciitis
Myositis Ossificans

Myisitis Ossificans

Ossification - Muscle

Telangiectatic Osteogenic Sarcoma

Telangiectatic Osteosarcoma

Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits

Intravascular Fasciitis

Intravascular Pseudosarcomatous Fasciitis

Ischemic Fasciitis

Atypical Decubital Fibroplasia

Proliferative Fasciitis
Cherubism

CRBM

Familial Benign Giant-Cell Tumor Of The Jaw

Familial Fibrous Dysplasia Of Jaw

Familial Multilocular Cystic Disease Of The Jaws

Fibroma
Deafness, Autosomal Dominant 65

DFNA65

Autosomal Dominant Nonsyndromic Deafness 65

Autosomal Dominant Deafness 65

Deafness, Autosomal Dominant, 65

Deafness, Autosomal Dominant, Type 65

Deafness, Autosomal Recessive 86

DFNB86

Autosomal Recessive Nonsyndromic Deafness 86

Autosomal Recessive Deafness 86

Deafness, Autosomal Recessive, 86

Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Conventional Osteosarcoma

Intracortical Osteosarcoma

Conventional Central Osteosarcoma

Intracortical Osteogenic Sarcoma

Medullary Osteosarcoma

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Developmental And Epileptic Encephalopathy 16

DEE16

Epileptic Encephalopathy, Early Infantile, 16

Eiee16

Developmental And Epileptic Encephalopathy, 16

Early Infantile Epileptic Encephalopathy 16

Progressive Myoclonic Epilepsy With Dystonia

Pmed

Progressive Myoclonus Epilepsy With Dystonia

Encephalopathy, Epileptic, Early Infantile, Type 16

Ossifying Fibroma

Peripheral Ossifying Fibroma

Fibro-Osteoma

Fibroma Ossifying

Fibroma, Ossifying

Periosteal Osteogenic Sarcoma

Periosteal Osteosarcoma

Parosteal Osteosarcoma

Giant Cell Reparative Granuloma

Central Giant Cell Granuloma

Central Giant Cell Reparative Granuloma Of Jaw

Central Giant Cell Granuloma

Granuloma, Giant Cell

Granuloma, Giant Cell Reparative

Giant Cell Lesion Of Small Bones

Giant Cell Granuloma, Nos

Bone Benign Neoplasm
Trigonitis

Bladder Trigonitis

Pseudomembranous Trigonitis

Osteoblastoma
Connective Tissue Benign Neoplasm

Soft Tissue Neoplasms

Mesenchymal Tissue Neoplasm

Neoplasm Of Soft Tissue

Neoplasm Of Soft Tissues

Soft Tissue Benign Neoplasm

Tumor Of The Soft Tissue

Soft Tissue Neoplasm

Oculoectodermal Syndrome

Aplasia Cutis Congenita With Epibulbar Dermoids

Toriello-Lacassie-Droste Syndrome

Oculoectodermal Syndrome, Somatic

OES

Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome

Oculo-Ectodermal Syndrome

Toriello Lacassie Droste Syndrome

Bone Giant Cell Tumor

Giant Cell Tumor Of Bone

Osteoclastoma

Gct Of Bone

Bone Giant Cell Tumour

Giant Cell Myeloma

Giant Cell Neoplasm Of Bone

Giant Cell Tumour Of Bone

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Tenosynovial Giant Cell Tumor

Fibrous Histiocytoma Of Tendon Sheath

Giant Cell Tumor Of Tendon Sheath

Giant Cell Tumor Of Tenosynovium

Giant Cell Tumour Of Tendon Sheath

Giant Cell Tumour Of Tenosynovium

Tenosynovial Giant Cell Tumour

Diffuse-Type Gct

Diffuse-Type Giant Cell Tumor

Pigmented Villonodular Synovitis

Tgct

Tsgct

Bone Epithelioid Hemangioma

Bone Hemangioma

Hemangioma Of Bone

Osseous Epithelioid Hemangioma

Osseous Hemangioma

Myofibroma

Lipoleiomyoma

Uterine Fibroids

Solitary Myofibromatosis

Myolipoma

Benign Giant Cell Tumor

Giant Cell Tumors

Clear Cell Chondrosarcoma

Chondrosarcoma, Clear Cell

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

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