FBXL17 - F-box and leucine rich repeat protein 17 Gene

Homo sapiens

Also known as Fbl17; Fbx13; FBXO13

Gene ID: 64839 | Gene type: protein coding

About FBXL17

Cytogenetic location: 5q21.3 Genomic coordinates (GRCh38): 5:107,859,035-108,382,098 (from NCBI)

This gene has 4 transcripts (splice variants), 236 orthologues and 15 paralogues. Ubiquitous expression in thyroid (RPKM 4.5), brain (RPKM 4.2) and 25 other tissues.

Summary

Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL17 Products(1)

mRNA	Protein	Name
NM_001163315.3	NP_001156787.2	F-box/LRR-repeat protein 17

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24035498	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	24035498	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	30190310	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	27234298	GOA
involved in protein quality control for misfolded or incompletely synthesized proteins	IDA IDA: Inferred from direct assay	30190310	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	24035498	GOA
involved in regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	27234298	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of SCF ubiquitin ligase complex	IDA IDA: Inferred from direct assay	24035498	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24035498	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24035498	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FBXL17 Protein Structure

F-box-like

0
200
400
600
701 a.a.

Protein Preferred Names

Protein Names

F-box/LRR-repeat protein 17

F-box only protein 13

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Cardiac Arrhythmia

Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	IDDCA
Intellectual Developmental Disorder, With Cardiac Arrhythmia

Proprotein Convertase 1/3 Deficiency

Obesity Due To Prohormone Convertase I Deficiency	Obesity With Impaired Prohormone Processing
Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones	Pci Deficiency
Proprotein Convertase 1 3 Deficiency	Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency
Proprotein Convertase 1 Deficiency	PC1 DEFICIENCY

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04786	FBXL17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FBXL17	MGD	MGI:1354704
Canis familiaris	FBXL17	VGNC	VGNC:59022
Macaca mulatta	FBXL17	VGNC	VGNC:82142
Felis catus	FBXL17	VGNC	VGNC:102205
Bos taurus	FBXL17	VGNC	VGNC:106738
Rattus norvegicus	FBXL17	RGD	RGD:1309773

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