1. Gene
  2. FBXW8 - F-box and WD repeat domain containing 8 Gene

FBXW8 - F-box and WD repeat domain containing 8 Gene

中文名称:含 F-box 和 WD 重复结构域 8

种属: Homo sapiens

同用名: FBW6; FBW8; FBX29; FBXW6; FBXO29

基因 ID: 26259 | 基因类型: protein coding

关于 FBXW8

Cytogenetic location: 12q24.22 Genomic coordinates (GRCh38): 12:116,910,950-117,031,148 (from NCBI)

This gene has 4 transcripts (splice variants), 191 orthologues and 14 paralogues. Ubiquitous expression in thyroid (RPKM 4.3), ovary (RPKM 2.4) and 25 other tissues.

功能概要

该基因编码 F-box 蛋白家族的一个成员,其成员的特征在于大约 40 个氨基酸基序,即 F-box。 F-box 蛋白构成称为 SCF (SKP1-cullin-F-box) 的泛素蛋白连接酶复合物的四个亚基之一,其在磷酸化依赖性泛素化中发挥作用。 F-box 蛋白分为三类:包含 WD-40 结构域的 Fbws、包含富含亮氨酸重复序列的 Fbls 和包含不同蛋白质-蛋白质相互作用模块或无可识别基序的 Fbxs。该基因编码的蛋白质含有一个 WD-40 结构域,另外还有一个 F-box 基序,因此属于 Fbw 类。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein Ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

FBXW8 基因产物(2)

mRNA Protein Name
NM_012174.2 NP_036306.1 F-box/WD repeat-containing protein 8 isoform 2
NM_153348.3 NP_699179.2 F-box/WD repeat-containing protein 8 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
15070733 GOA
contributes to ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
24362026 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IGI
IGI: 通过遗传相互作用推断
21572988 GOA
involved in cell population proliferation IDA
IDA: 通过直接分析推断
24362026 GOA
involved in positive regulation of dendrite morphogenesis IDA
IDA: 通过直接分析推断
21572988 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
18498745 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of 3M complex IDA
IDA: 通过直接分析推断
24793695 GOA
part of Cul7-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
18498745 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
21572988 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21572988 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

FBXW8 蛋白结构

F-box-like

F-box-like: F-box-like (118 - 161)

WD40

WD40: WD domain, G-beta repeat (380 - 461)

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

F-box/WD repeat-containing protein 8

F-box and WD-40 domain protein 8

FBXW8 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
FBXW8 Q8N3Y1 MYC Homo sapiens P01106
Anti Tag CoIP
17314511
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
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

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 FBXW8 VGNC VGNC:62205
Rattus norvegicus FBXW8 RGD RGD:1306032
Mus musculus FBXW8 MGD MGI:1923041
Canis familiaris FBXW8 VGNC VGNC:40798
Macaca mulatta FBXW8 VGNC VGNC:72497
Bos taurus FBXW8 VGNC VGNC:58599