1. Gene
  2. FBXO32 - F-box protein 32 Gene

FBXO32 - F-box protein 32 Gene

中文名称:F-box 蛋白 32

种属: Homo sapiens

同用名: Fbx32; MAFbx

基因 ID: 114907 | 基因类型: protein coding

关于 FBXO32

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:123,497,889-123,541,206 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues and 1 paralogue. Broad expression in endometrium (RPKM 28.7), heart (RPKM 22.1) and 18 other tissues.

功能概要

该基因编码 F-box 蛋白家族的一个成员,其特征在于大约 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 3 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属于 Fbxs 类,含有一个 F-box 结构域。这种蛋白质在肌肉萎缩期间高度表达,而发现缺乏这种基因的小鼠对萎缩有抵抗力。因此,该蛋白质是治疗肌肉萎缩症的潜在药物靶标。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 6 月]

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein Ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

FBXO32 基因产物(3)

mRNA Protein Name
NM_001242463.2 NP_001229392.1 F-box only protein 32 isoform 3
NM_058229.4 NP_478136.1 F-box only protein 32 isoform 1
NM_148177.3 NP_680482.1 F-box only protein 32 isoform 2
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
18354498 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
26753747 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SCF ubiquitin ligase complex IDA
IDA: 通过直接分析推断
26753747 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
26768247 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
蛋白主名 其他名称

F-box only protein 32

atrogin 1

FBXO32 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
FBXO32 Q969P5 EIF3F Homo sapiens O00303
IF
18354498
种属内
FBXO32 Q969P5 EIF3F Homo sapiens O00303
Anti Tag CoIP
18354498
种属内
FBXO32 Q969P5 EIF3F Homo sapiens O00303
Pull Down
18354498
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
Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Muscle Tissue Disease
Acquired Immunodeficiency Syndrome

Acquired Immune Deficiency Syndrome

AIDS

Acquired Immune Deficiency

Acquired Immunodeficiency

Acquired Immunodeficiency Due To Protein Loss

Muscular Disease
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type

Myopathy

Muscular Diseases

Myopathies

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

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 FBXO32 VGNC VGNC:40774
Bos taurus FBXO32 VGNC VGNC:28905
Mus musculus FBXO32 MGD MGI:1914981
Macaca mulatta FBXO32 VGNC VGNC:72517
Rattus norvegicus FBXO32 RGD RGD:620373
Felis catus FBXO32 VGNC VGNC:62186