2. Gene
  3. FBXL3 - F-box and leucine rich repeat protein 3 Gene

FBXL3 - F-box and leucine rich repeat protein 3 Gene

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

中文名称：F-box 和富亮氨酸的重复蛋白 3

种属: Homo sapiens

同用名: FBL3; FBL3A; FBXL3A; IDDSFAS

基因 ID: 26224 | 基因类型: protein coding

关于 FBXL3

Cytogenetic location: 13q22.3 Genomic coordinates (GRCh38): 13:77,005,260-77,027,159 (from NCBI)

This gene has 6 transcripts (splice variants), 258 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 28.0), fat (RPKM 26.4) 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 Fbls 类，除了 F-box 外，还包含几个串联的富含亮氨酸的重复序列，位于细胞核中。[RefSeq 提供，2008 年 7 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 Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

FBXL3 基因产物(1)

mRNA Protein Name
NM_012158.4 NP_036290.1 F-box/LRR-repeat protein 3

FBXL3 蛋白结构

F-box-like

F-box-like: F-box-like (42 - 77)

  • 0
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  • 400
  • 428 a.a.
蛋白主名 其他名称

F-box/LRR-repeat protein 3

F-box and leucine-rich repeat protein 3A

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects

IDDSFAS

Mental Retardation, Short Stature, Facial Anomalies, And Joint Dislocations
Ceroid Lipofuscinosis, Neuronal, 5

Neuronal Ceroid Lipofuscinosis 5

CLN5

Cln5 Disease

Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis

Vlincl

Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset

Cln5 Disease, Adult

Cln5 Disease, Juvenile

Cln5 Disease, Late Infantile

Neuronal Ceroid Lipofuscinosis Finnish Variant

Finnish Vlincl

Jansky-Bielschowsky Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Finnish

Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset

Lipofuscinosis, Ceroid, Neuronal, Type 5

Late-Infantile Neuronal Ceroid Lipfuscinosis

Ceroid Lipofuscinosis, Neuronal, 6
Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial
Delayed Sleep Phase Disorder

Delayed Sleep Phase Syndrome

Delayed Sleep Phase Syndrome, Susceptibility To

DSPD

Delayed Sleep Phase Disorder, Susceptibility To

DSPS

Sleep Phase, Delayed, Disorder

Sleep Phase Syndrome, Delayed, Susceptibility To
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-134194 KL201 98.15% 否
HY-RS04791 FBXL3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris FBXL3 VGNC VGNC:54948
Bos taurus FBXL3 VGNC VGNC:52777
Felis catus FBXL3 VGNC VGNC:62175
Rattus norvegicus FBXL3 RGD RGD:1305660
Mus musculus FBXL3 MGD MGI:1354702
Macaca mulatta FBXL3 VGNC VGNC:72498
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