1. Gene
  2. NAE1 - NEDD8 activating enzyme E1 subunit 1 Gene

NAE1 - NEDD8 activating enzyme E1 subunit 1 Gene

中文名称:NEDD8 激活酶 E1 亚基 1

种属: Homo sapiens

同用名: HPP1; ula-1; APPBP1; A-116A10.1

基因 ID: 8883 | 基因类型: protein coding

关于 NAE1

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:66,802,878-66,830,976 (from NCBI)

This gene has 22 transcripts (splice variants), 215 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 28.1), thyroid (RPKM 17.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质与 β-淀粉样蛋白前体蛋白结合。 β-淀粉样蛋白前体蛋白是一种具有信号转导特性的细胞表面蛋白,被认为在阿尔茨海默病的发病机制中发挥作用。此外,编码的蛋白质可以与 UBE1C 形成异二聚体,并结合并激活泛素样蛋白 NEDD8。这种蛋白质是通过 S/M 检查点的细胞周期进程所必需的。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NAE1 基因产物(4)

mRNA Protein Name
NM_001018159.2 NP_001018169.1 NEDD8-activating enzyme E1 regulatory subunit isoform b
NM_001018160.2 NP_001018170.1 NEDD8-activating enzyme E1 regulatory subunit isoform c
NM_001286500.2 NP_001273429.1 NEDD8-activating enzyme E1 regulatory subunit isoform d
NM_003905.4 NP_003896.1 NEDD8-activating enzyme E1 regulatory subunit 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
contributes to NEDD8 activating enzyme activity IDA
IDA: 通过直接分析推断
12740388 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8626687 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
12740388 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
18627766 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic DNA replication checkpoint signaling IDA
IDA: 通过直接分析推断
10722740 GOA
involved in neuron apoptotic process IDA
IDA: 通过直接分析推断
14557245 GOA
involved in protein neddylation IDA
IDA: 通过直接分析推断
10207026 GOA
involved in protein neddylation IMP
IMP: 通过突变表型推断
36608681 GOA
involved in regulation of apoptotic process IDA
IDA: 通过直接分析推断
14557245 GOA
involved in regulation of apoptotic process IMP
IMP: 通过突变表型推断
10722740 GOA
involved in regulation of neuron apoptotic process IDA
IDA: 通过直接分析推断
10722740 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
12740388 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

NAE1 蛋白结构

ThiF

ThiF: ThiF family (30 - 153)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 534 a.a.
蛋白主名 其他名称

NEDD8-activating enzyme E1 regulatory subunit

APP-BP1

NAE1 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
NAE1 Q13564 HEXB Homo sapiens P07686 32814053
种属内
NAE1 Q13564 HEXB Homo sapiens P07686 32814053
种属内
NAE1 Q13564 HEXB Homo sapiens P07686 32814053
种属内
NAE1 Q13564 UBA3 Homo sapiens Q8TBC4 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

NAE1 抗体

目录号 产品名 应用 反应物种
HY-P82386 APPBP1 Antibody (YA2131) WB, IP Human

关联疾病

疾病名称 别名
Exostoses, Multiple, Type I

Exostoses, Multiple, Type 1

EXT1

Multiple Cartilaginous Exostoses

Diaphyseal Aclasis

Multiple Osteochondromas

Osteochondromatosis

Hereditary Multiple Exostoses

Bessel-Hagen Disease

Exostoses, Multiple

Ext

Hereditary Multiple Osteochondromas

Hmo

Hereditary Multiple Exostosis

Multiple Exostoses

Hereditary Multiple Exostoses 1

Osteochondromas, Multiple

Enchondromatosis

Glucuronyltransferase/N-Acetylglucosaminyltransferase Deficiency

Ext1/Ext2-Cdg

Multiple Congenital Exostoses

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
Felis catus NAE1 VGNC VGNC:67883
Rattus norvegicus NAE1 RGD RGD:619945
Mus musculus NAE1 MGD MGI:2384561
Canis familiaris NAE1 VGNC VGNC:43607
Bos taurus NAE1 VGNC VGNC:31866
Macaca mulatta NAE1 VGNC VGNC:75064