1. Gene
  2. USP14 - ubiquitin specific peptidase 14 Gene

USP14 - ubiquitin specific peptidase 14 Gene

中文名称:泛素特异性肽酶 14

种属: Homo sapiens

同用名: TGT; Ubp6

基因 ID: 9097 | 基因类型: protein coding

关于 USP14

Cytogenetic location: 18p11.32 Genomic coordinates (GRCh38): 18:158,557-214,629 (from NCBI)

This gene has 9 transcripts (splice variants), 217 orthologues, 71 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 16.7), prostate (RPKM 15.4) and 25 other tissues.

功能概要

该基因编码泛素特异性加工 (UBP) 蛋白酶家族的一个成员,该家族是一种具有 His 和 Cys 结构域的去泛素化酶 (DUB) 。该蛋白质位于细胞质中并从泛素融合前体和泛素化蛋白质中切割泛素部分。具有导致该蛋白质直系同源物表达减少的突变的小鼠生长迟缓,在 2 至 3 周大时出现严重震颤,随后在 6 至 10 周大时出现后肢麻痹和死亡。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 member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating Enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP14 基因产物(2)

mRNA Protein Name
NM_001037334.2 NP_001032411.1 ubiquitin carboxyl-terminal hydrolase 14 isoform b
NM_005151.4 NP_005142.1 ubiquitin carboxyl-terminal hydrolase 14 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 K63-linked deubiquitinase activity EXP
EXP: 通过实验结果推断
26620909 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
19106094 GOA
enables deubiquitinase activity IMP
IMP: 通过突变表型推断
19135427 GOA
enables endopeptidase inhibitor activity IMP
IMP: 通过突变表型推断
18162577 GOA
enables proteasome binding IDA
IDA: 通过直接分析推断
18162577 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19106094 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of ERAD pathway IMP
IMP: 通过突变表型推断
19135427 GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
19135427 GOA
involved in protein K48-linked deubiquitination IMP
IMP: 通过突变表型推断
18162577 GOA
involved in regulation of chemotaxis IMP
IMP: 通过突变表型推断
19106094 GOA
involved in regulation of proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
18162577 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
19106094 GOA
is active in cytoplasm IDA
IDA: 通过直接分析推断
27666593 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
19106094 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

USP14 蛋白结构

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (104 - 480)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 494 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase 14

deubiquitinating enzyme 14

USP14 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
USP14 P54578 PPP3CA Homo sapiens Q08209
IF
19896943
种属内
USP14 P54578 PPP3CA Homo sapiens Q08209
Anti Tag CoIP
19896943
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 USP14 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71418 USP14 Protein, Human (His) P54578 (D91-Q494) ≥95%

关联疾病

疾病名称 别名
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 USP14 VGNC VGNC:48179
Rattus norvegicus USP14 RGD RGD:1311825
Felis catus USP14 VGNC VGNC:66868
Bos taurus USP14 VGNC VGNC:36712
Macaca mulatta USP14 VGNC VGNC:78736
Mus musculus USP14 MGD MGI:1928898
Others USP14 NCBI