2. Gene
  3. USP48 - ubiquitin specific peptidase 48 Gene

USP48 - ubiquitin specific peptidase 48 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：泛素特异性肽酶 48

种属: Homo sapiens

同用名: USP31; RAP1GA1

基因 ID: 84196 | 基因类型: protein coding

关于 USP48

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:21,678,298-21,783,149 (from NCBI)

This gene has 15 transcripts (splice variants), 215 orthologues, 71 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues.

功能概要

该基因编码的蛋白质包含与肽酶家族 C19 相关联的结构域，也称为泛素羧基末端水解酶家族 2。家族成员起去泛素化酶的作用，识别并水解泛素 C 末端甘氨酸的肽键。肽酶家族 C19 中的酶参与多聚泛素前体以及泛素化蛋白质的加工。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating Enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP48 基因产物(7)

mRNA Protein Name
NM_001032730.3 NP_001027902.1 ubiquitin carboxyl-terminal hydrolase 48 isoform b
NM_001330394.3 NP_001317323.1 ubiquitin carboxyl-terminal hydrolase 48 isoform c
NM_001350164.2 NP_001337093.1 ubiquitin carboxyl-terminal hydrolase 48 isoform d
NM_001350166.2 NP_001337095.1 ubiquitin carboxyl-terminal hydrolase 48 isoform 3
NM_001350167.2 NP_001337096.1 ubiquitin carboxyl-terminal hydrolase 48 isoform f
NM_001350168.2 NP_001337097.1 ubiquitin carboxyl-terminal hydrolase 48 isoform g
NM_032236.8 NP_115612.4 ubiquitin carboxyl-terminal hydrolase 48 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables deubiquitinase activity IDA
IDA: 通过直接分析推断
34059922 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 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

USP48 蛋白结构

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (89 - 418)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1035 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 48

deubiquitinating enzyme 48

关联疾病

疾病名称 别名
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
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
Pelvic Lipomatosis

Excess Of Mature Unencapsulated Fatty Tissue In The Pelvis
Acth-Secreting Pituitary Adenoma

Acth-Producing Pituitary Adenoma

Corticotroph Adenoma

Corticotropinoma

Pituitary-Dependent Cushing'S Disease

Adrenal Gland Hyperfunction

Cushing Syndrome
Nelson Syndrome

Nelson'S Syndrome

Dermal Ridges

Ridges-Off-The-End Syndrome

Postadrenalectomy Cushing Syndrome
Multiple Endocrine Neoplasia, Type Iv

Multiple Endocrine Neoplasia Type 4

MEN4

Multiple Endocrine Neoplasia 4

Neoplasia, Endocrine, Multiple, Type Iv
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
Functioning Pituitary Adenoma

Secretory Adenoma Of The Pituitary Gland

Endocrine Active Pituitary Adenoma

Secreting Pituitary Adenoma

Pituitary Adenoma, Functioning
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
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15559 USP48 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus USP48 VGNC VGNC:36733
Rattus norvegicus USP48 RGD RGD:735213
Mus musculus USP48 MGD MGI:2158502
Felis catus USP48 VGNC VGNC:66891
Canis familiaris USP48 VGNC VGNC:48199
Macaca mulatta USP48 VGNC VGNC:79149
Others USP48 NCBI
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