1. Gene
  2. FBXL7 - F-box and leucine rich repeat protein 7 Gene

FBXL7 - F-box and leucine rich repeat protein 7 Gene

中文名称:F-box 和富亮氨酸的重复蛋白 7

种属: Homo sapiens

同用名: FBL6; FBL7

基因 ID: 23194 | 基因类型: protein coding

关于 FBXL7

Cytogenetic location: 5p15.1 Genomic coordinates (GRCh38): 5:15,500,180-15,939,793 (from NCBI)

This gene has 3 transcripts (splice variants), 226 orthologues and 15 paralogues. Ubiquitous expression in endometrium (RPKM 6.3), adrenal (RPKM 5.3) and 22 other tissues.

功能概要

该基因编码 F-box 蛋白家族的一个成员,其特征是具有 42-48 个氨基酸基序,即 F-box,它与 S 期激酶相关蛋白 1 (Skp1) 蛋白结合。 F-box 蛋白构成称为 SCF (SKP1-Cul1-F-box) 的 E3 泛素蛋白连接酶的四个亚基之一,它在蛋白质的磷酸化依赖性泛素化中发挥作用。 F-box 蛋白根据蛋白质中的其他结构域分为 3 个亚家族:也具有 WD-40 结构域的 F-box 蛋白 (Fbws 亚家族) 、也具有富含亮氨酸重复序列的 F-box 蛋白 (Fbls 亚家族) ) 和包含其他基序或缺乏已知蛋白质相互作用域的 F-box 蛋白 (Fbxs 亚家族) 。该基因编码的蛋白质属于 Fbls 亚家族。可变剪接导致该基因的多个转录变体。[RefSeq 提供,2013 年 5 月]

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the Other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain Other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

FBXL7 基因产物(2)

mRNA Protein Name
NM_001278317.2 NP_001265246.1 F-box/LRR-repeat protein 7 isoform 2
NM_012304.5 NP_036436.1 F-box/LRR-repeat protein 7 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
25778398 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
25778398 GOA
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
28218735 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
25778398 GOA
involved in protein polyubiquitination IMP
IMP: 通过突变表型推断
28218735 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
25778398 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

FBXL7 蛋白结构

F-box-like

F-box-like: F-box-like (114 - 159)

LRR_6

LRR_6: Leucine Rich repeat (237 - 252)

LRR_6

LRR_6: Leucine Rich repeat (297 - 319)

LRR_6

LRR_6: Leucine Rich repeat (375 - 399)

LRR_6

LRR_6: Leucine Rich repeat (401 - 424)

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

F-box/LRR-repeat protein 7

F-box protein Fbl7

FBXL7 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
FBXL7 Q9UJT9 FCHO1 Homo sapiens A0A0C3SFZ9 32296183
种属内
FBXL7 Q9UJT9 FCHO1 Homo sapiens A0A0C3SFZ9 32296183
种属内
FBXL7 Q9UJT9 TBC1D5 Homo sapiens Q92609 32296183
种属内
FBXL7 Q9UJT9 TBC1D5 Homo sapiens Q92609 32296183
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
Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D

Hmn Iid

Dhmn2d

Distal Hereditary Motor Neuronopathy Type 2d

Distal Hereditary Motor Neuropathy Type Iid

Neuronopathy, Distal Hereditary Motor, Type 2d

Neuropathy, Distal Hereditary Motor, Type Iid

Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant

Distal Spinal Muscular Atrophy With Calf Predominance

Neuronopathy, Distal Hereditary Motor, 2d

Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant

Dhmn Iid

Neuropathy, Motor, Distal, Hereditary, Type 2d

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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 FBXL7 VGNC VGNC:97435
Bos taurus FBXL7 VGNC VGNC:52778
Canis familiaris FBXL7 VGNC VGNC:50891
Rattus norvegicus FBXL7 RGD RGD:1305813
Macaca mulatta FBXL7 VGNC VGNC:81409
Mus musculus FBXL7 MGD MGI:3052506