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

Also Known as Fbl17; Fbx13; FBXO13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64839

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

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

  • 0
  • 200
  • 400
  • 600
  • 701 a.a.
Protein Preferred Names Protein Names

F-box/LRR-repeat protein 17

  • F-box only protein 13

FBXL17 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FBXL17 Q9UF56 SPAST Homo sapiens Q9UBP0 35869491
Intra
FBXL17 Q9UF56 KBTBD8 Homo sapiens Q8NFY9 30190310
Intra
FBXL17 Q9UF56 SKP1 Homo sapiens P63208 30190310
Intra
FBXL17 Q9UF56 SKP1 Homo sapiens P63208 30190310
Intra
FBXL17 Q9UF56 SPAST Homo sapiens Q9UBP0-1 35869491
Intra
FBXL17 Q9UF56 SPAST Homo sapiens Q9UBP0-1 35869491
Intra
FBXL17 Q9UF56 KLHL12 Homo sapiens Q53G59 30190310
Intra
FBXL17 Q9UF56 KLHL12 Homo sapiens Q53G59 30190310
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others FBXL17 NCBI