2. Gene
  3. FBXO11 - F-box protein 11 Gene

FBXO11 - F-box protein 11 Gene

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

中文名称：F-box 蛋白 11

种属: Homo sapiens

同用名: UBR6; VIT1; FBX11; PRMT9; IDDFBA; UG063H01

基因 ID: 80204 | 基因类型: protein coding

关于 FBXO11

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:47,806,920-47,906,498 (from NCBI)

This gene has 18 transcripts (splice variants), 135 orthologues, 1 paralogue and is associated with 132 phenotypes. Ubiquitous expression in testis (RPKM 26.4), brain (RPKM 21.6) 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。它可以作为精氨酸甲基转移酶使精氨酸残基对称二甲基化，并作为衔接蛋白介导 p53 的 neddylation，从而抑制 p53 功能。已知该基因在白斑病患者的黑素细胞中下调，白斑病是一种导致色素脱失的皮肤病。该基因的多态性与伴有积液的慢性中耳炎和复发性中耳炎 (COME/ROM) 相关，这是一种听力损失疾病，同源小鼠基因的敲除导致耳聋小鼠突变体 Jeff (Jf) ，这是一种单基因模型中耳炎。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，2010 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 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. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

FBXO11 基因产物(3)

mRNA Protein Name
NM_001190274.2 NP_001177203.1 F-box only protein 11 isoform 4
NM_001374325.1 NP_001361254.1 F-box only protein 11 isoform 1
NM_025133.4 NP_079409.3 F-box only protein 11 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
17098746 GOA
enables protein-arginine N-methyltransferase activity IDA
IDA: 通过直接分析推断
16487488 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
25827072 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of epithelial to mesenchymal transition IDA
IDA: 通过直接分析推断
25827072 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
25827072 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
29059170 GOA
involved in protein modification process IDA
IDA: 通过直接分析推断
16487488 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16487488 GOA
is active in nucleus IDA
IDA: 通过直接分析推断
25827072 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16487488 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

FBXO11 蛋白结构

F-box-like

F-box-like: F-box-like (158 - 200)

Beta_helix

Beta_helix: Right handed beta helix region (481 - 631)

Beta_helix

Beta_helix: Right handed beta helix region (664 - 819)

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (840 - 895)

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

F-box only protein 11

protein arginine N-methyltransferase 9

FBXO11 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
Intra FBXO11 Q86XK2 SNAI1 Homo sapiens O95863
Anti Bait CoIP
25203322
Intra FBXO11 Q86XK2 SKP1 Homo sapiens P63208
Anti Tag CoIP
22632967
Intra FBXO11 Q86XK2 SKP1 Homo sapiens P63208
Anti Tag CoIP
17098746
Intra FBXO11 Q86XK2 SKP1 Homo sapiens P63208
Anti Tag CoIP
33961781
Intra FBXO11 Q86XK2 SKP1 Homo sapiens P63208
Y2H Prey Pooling
25416956
Intra FBXO11 Q86XK2 SKP1 Homo sapiens P63208-1
Anti Bait CoIP
22113614
Intra FBXO11 Q86XK2 SKP1 Homo sapiens P63208-1
Anti Tag CoIP
22113614
Intra FBXO11 Q86XK2 TP53 Homo sapiens P04637
Pull Down
17098746
Intra FBXO11 Q86XK2 TP53 Homo sapiens P04637
Anti Bait CoIP
17098746
Intra FBXO11 Q86XK2 BCL6 Homo sapiens P41182
Anti Tag CoIP
22113614
Intra FBXO11 Q86XK2 BCL6 Homo sapiens P41182
Anti Bait CoIP
22113614
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
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities

IDDFBA

Intellectual Developmental Disorder, Dysmorphic Facies, Behavioral Abnormalities
Otitis Media

Opsoclonus-Myoclonus Syndrome

OMS

Otitis Media, Susceptibility To

Kinsbourne Syndrome

Otitis Media, Chronic/Recurrent

Come/Rom

Ataxo-Opso-Myoclonus Syndrome

Dancing Eye Syndrome

Dancing Eye-Dancing Feet Syndrome

Oma Syndrome

Opsoclonus Myoclonus Syndrome

Opsoclonus-Myoclonus-Ataxia Syndrome

Poma Syndrome

Paraneoplastic Opsoclonus-Myoclonus

Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

Opsoclonus Myoclonus

OM

{Otitis Media, Susceptibility To}

Infectious Otitis Media
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]
Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative
Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear
Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma
Tympanosclerosis

Ts - [Tympanosclerosis]

Tympanic Membrane Sclerosis
Tympanic Membrane Disease

Disorder Of Tympanic Membrane
Adhesive Otitis Media

Adhesive Middle Ear Disease

Chronic Adhesive Otitis Media

Adhesive Otitis

Fibrotic Adhesive Otitis Media

Adhesive Disorder Of Middle Ear
Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma
Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia

Bilateral Optic Nerve Hypoplasia

Optic Nerve Hypoplasia, Familial Bilateral

Familial Bilateral Optic Nerve Hypoplasia

Isolated Optic Nerve Hypoplasia/Aplasia

Optic Nerve Aplasia, Bilateral

Onh

BONH

Bilateral Optic Nerve Aplasia

Hypoplasia, Optic Nerve, Bilateral
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

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-RS04795 FBXO11 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 FBXO11 VGNC VGNC:28892
Rattus norvegicus FBXO11 RGD RGD:727935
Macaca mulatta FBXO11 VGNC VGNC:72493
Felis catus FBXO11 VGNC VGNC:62176
Mus musculus FBXO11 MGD MGI:2147134
Canis familiaris FBXO11 VGNC VGNC:40762
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