1. Gene
  2. FBXL17 - F-box and leucine rich repeat protein 17 Gene

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

FBXL17 Protein Structure

F-box-like

F-box-like: F-box-like (321 - 367)

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  • 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

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