1. Gene
  2. FBXL18 - F-box and leucine rich repeat protein 18 Gene

FBXL18 - F-box and leucine rich repeat protein 18 Gene

中文名称:F-box 和富亮氨酸的重复蛋白 18

种属: Homo sapiens

同用名: Fbl18

基因 ID: 80028 | 基因类型: protein coding

关于 FBXL18

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,454,425-5,513,809 (from NCBI)

This gene has 4 transcripts (splice variants), 218 orthologues and 15 paralogues. Ubiquitous expression in brain (RPKM 2.3), fat (RPKM 1.2) and 24 other tissues.

功能概要

由该基因编码的蛋白质是包含大约 40 个氨基酸的 F-box 基序的蛋白质家族的成员。该基序对于与 SKP1 的相互作用以及针对某些蛋白质进行降解非常重要。编码的蛋白质已被证明可以控制 FBXL7 的细胞水平,FBXL7 是一种诱导有丝分裂停滞的蛋白质,通过将其靶向多泛素化和蛋白酶体降解。 F-box 蛋白家族的成员,例如 FBXL18,以大约 40 个氨基酸的 F-box 基序为特征。 F-box 蛋白通过 F-box 与 SKP1 相互作用,并且它们通过其他蛋白质相互作用域与泛素化靶标相互作用。[RefSeq 提供,2016 年 3 月]

The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through Other protein interaction domains. [provided by RefSeq, Mar 2016]

FBXL18 基因产物(6)

mRNA Protein Name
NM_001321213.2 NP_001308142.1 F-box/LRR-repeat protein 18 isoform 1
NM_001363441.2 NP_001350370.1 F-box/LRR-repeat protein 18 isoform 3
NM_001363442.2 NP_001350371.1 F-box/LRR-repeat protein 18 isoform 4
NM_001367780.1 NP_001354709.1 F-box/LRR-repeat protein 18 isoform 5
NM_001367781.1 NP_001354710.1 F-box/LRR-repeat protein 18 isoform 5
NM_024963.6 NP_079239.3 F-box/LRR-repeat protein 18 isoform 2

FBXL18 蛋白结构

F-box-like

F-box-like: F-box-like (33 - 74)

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

F-box/LRR-repeat protein 18

关联疾病

疾病名称 别名
Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3

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 FBXL18 VGNC VGNC:62174
Macaca mulatta FBXL18 VGNC VGNC:72549
Canis familiaris FBXL18 VGNC VGNC:54024
Bos taurus FBXL18 VGNC VGNC:52774
Rattus norvegicus FBXL18 RGD RGD:1596958
Mus musculus FBXL18 MGD MGI:2444450