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 ... See more...

Aliases for FBXL17 Gene

Aliases for FBXL17 Gene

  • F-Box And Leucine Rich Repeat Protein 17 2 3 5
  • F-Box Only Protein 13 2 3 4
  • F-Box/LRR-Repeat Protein 17 3 4
  • FBXO13 3 4
  • Fbl17 2 3
  • Fbx13 2 3
  • F-Box And Leucine-Rich Repeat Protein 17 4
  • DKFZP434C1715 2
  • FBXL17 5
  • FBL17 4
  • FBX13 4

External Ids for FBXL17 Gene

Previous HGNC Symbols for FBXL17 Gene

  • FBXO13

Previous GeneCards Identifiers for FBXL17 Gene

  • GC05M107271
  • GC05M107223
  • GC05M102367

Summaries for FBXL17 Gene

Entrez Gene Summary for FBXL17 Gene

  • 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]

GeneCards Summary for FBXL17 Gene

FBXL17 (F-Box And Leucine Rich Repeat Protein 17) is a Protein Coding gene. Diseases associated with FBXL17 include Proprotein Convertase 1/3 Deficiency. An important paralog of this gene is FBXL7.

UniProtKB/Swiss-Prot Summary for FBXL17 Gene

  • Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteaseome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXL17 Gene

Genomics for FBXL17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXL17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J108378 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 604.9 +0.8 797 5.4 RNF2 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF692 POLR2A FBXL17 ENSG00000286503 lnc-FER-2 FER RF00017-4817 EFNA5
GH05J108367 Promoter 0.5 EPDnew 600.4 +14.2 14210 0.1 ZBTB44 ZNF335 FBXL17 RF00017-4817 EFNA5
GH05J107964 Enhancer 1 VISTA Ensembl 9.4 +416.4 416379 3.1 BACH1 IKZF2 TRIM22 ZSCAN29 DPF2 RELB EZH2 BCL11A ARNT ELF1 FBXL17 piR-57461-188 HSALNG0044024 EFNA5
GH05J108212 Enhancer 0.8 Ensembl ENCODE 11.4 +169.0 168997 1.4 IKZF1 SOX6 EGR1 FOXK2 FOXA2 NCOR1 FOXA1 TAL1 HOMEZ PRDM10 FBXL17 piR-50443-305 piR-38423-053 EFNA5
GH05J107668 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.3 +711.5 711497 7.2 BRCA1 CTCF ATF7 PRDM10 ZNF629 KDM1A ZNF692 BACH1 TARDBP FOXA1 EFNA5 HSALNG0044012 HSALNG0044013 NONHSAG041192.2 FBXL17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXL17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXL17

Top Transcription factor binding sites by QIAGEN in the FBXL17 gene promoter:
  • AP-1
  • AREB6
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • COMP1
  • Elk-1
  • Ik-3
  • Sp1

Genomic Locations for FBXL17 Gene

Genomic Locations for FBXL17 Gene
chr5:107,859,035-108,382,098
(GRCh38/hg38)
Size:
523,064 bases
Orientation:
Minus strand
chr5:107,194,734-107,717,799
(GRCh37/hg19)
Size:
523,066 bases
Orientation:
Minus strand

Genomic View for FBXL17 Gene

Genes around FBXL17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXL17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL17 Gene

Proteins for FBXL17 Gene

  • Protein details for FBXL17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UF56-FXL17_HUMAN
    Recommended name:
    F-box/LRR-repeat protein 17
    Protein Accession:
    Q9UF56
    Secondary Accessions:
    • A1A4E3

    Protein attributes for FBXL17 Gene

    Size:
    701 amino acids
    Molecular mass:
    75695 Da
    Quaternary structure:
    • Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL17) composed of CUL1, SKP1, RBX1 and FBXL17 (PubMed:24035498). Interacts with BTB domain-containing proteins such as KLHL12, BCL6 and BACH1; specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition (PubMed:30190310). Interacts with SUFU (PubMed:27234298). Interacts with PRMT1 (By similarity).

    Alternative splice isoforms for FBXL17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXL17 Gene

Post-translational modifications for FBXL17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FBXL17 Gene

Domains & Families for FBXL17 Gene

Gene Families for FBXL17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FBXL17 Gene

Suggested Antigen Peptide Sequences for FBXL17 Gene

GenScript: Design optimal peptide antigens:
  • F-box only protein 13 (FXL17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UF56

UniProtKB/Swiss-Prot:

FXL17_HUMAN :
  • Belongs to the FBXL17 family.
Family:
  • Belongs to the FBXL17 family.
genes like me logo Genes that share domains with FBXL17: view

Function for FBXL17 Gene

Molecular function for FBXL17 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteaseome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity).

Phenotypes From GWAS Catalog for FBXL17 Gene

Gene Ontology (GO) - Molecular Function for FBXL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 24035498
genes like me logo Genes that share ontologies with FBXL17: view
genes like me logo Genes that share phenotypes with FBXL17: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL17

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXL17 Gene

Localization for FBXL17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXL17 Gene

Cytoplasm. Nucleus. Note=Present in the cytoplasm and nucleus; more abundant in the cytoplasm. {ECO:0000269 PubMed:24035498}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXL17 gene
Compartment Confidence
nucleus 5
plasma membrane 2
peroxisome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBXL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24035498
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 24035498
GO:0005829 cytosol IBA 21873635
GO:0019005 SCF ubiquitin ligase complex IDA 24035498
genes like me logo Genes that share ontologies with FBXL17: view

Pathways & Interactions for FBXL17 Gene

PathCards logo

SuperPathways for FBXL17 Gene

No Data Available

SIGNOR curated interactions for FBXL17 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for FBXL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IBA 21873635
GO:0000209 protein polyubiquitination IDA 27234298
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins IDA 30190310
GO:0007399 nervous system development ISS --
GO:0008589 regulation of smoothened signaling pathway IMP 27234298
genes like me logo Genes that share ontologies with FBXL17: view

No data available for Pathways by source for FBXL17 Gene

Drugs & Compounds for FBXL17 Gene

(1) Drugs for FBXL17 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibitor, Inhibition 453
genes like me logo Genes that share compounds with FBXL17: view

Transcripts for FBXL17 Gene

mRNA/cDNA for FBXL17 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL17

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL17 Gene

No ASD Table

Relevant External Links for FBXL17 Gene

GeneLoc Exon Structure for
FBXL17

Expression for FBXL17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXL17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBXL17 Gene

This gene is overexpressed in Plasma (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBXL17 Gene



Protein tissue co-expression partners for FBXL17 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXL17

SOURCE GeneReport for Unigene cluster for FBXL17 Gene:

Hs.657225

Evidence on tissue expression from TISSUES for FBXL17 Gene

  • Nervous system(4.7)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with FBXL17: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL17 Gene

Orthologs for FBXL17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXL17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBXL17 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXL17 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
FBXL17 30
  • 95.91 (n)
-- 31
  • 85 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Fbxl17 30
  • 91.31 (n)
Mouse
(Mus musculus)
Mammalia Fbxl17 30 17 31
  • 90.6 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia FBXL17 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBXL17 30 31
  • 84.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBXL17 31
  • 77 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC795023 30
  • 59.44 (n)
FBXL17 31
  • 55 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToOne
Species where no ortholog for FBXL17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FBXL17 Gene

ENSEMBL:
Gene Tree for FBXL17 (if available)
TreeFam:
Gene Tree for FBXL17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXL17: view image

Paralogs for FBXL17 Gene

genes like me logo Genes that share paralogs with FBXL17: view

Variants for FBXL17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXL17 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
729054 Likely Benign: not provided 108,364,912(-) A/G SYNONYMOUS_VARIANT
735710 Likely Benign: not provided 108,381,551(-) C/T SYNONYMOUS_VARIANT
751955 Likely Benign: not provided 108,186,179(-) A/G SYNONYMOUS_VARIANT
775223 Benign: not provided 108,224,214(-) T/C SYNONYMOUS_VARIANT
780547 Benign: not provided 108,381,387(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FBXL17 Gene

Structural Variations from Database of Genomic Variants (DGV) for FBXL17 Gene

Variant ID Type Subtype PubMed ID
dgv5775n100 CNV loss 25217958
dgv5776n100 CNV loss 25217958
esv2166597 CNV deletion 18987734
esv22701 CNV loss 19812545
esv2528556 CNV deletion 19546169
esv2621797 CNV deletion 19546169
esv2670014 CNV deletion 23128226
esv2675178 CNV deletion 23128226
esv2730581 CNV deletion 23290073
esv3309196 CNV mobile element insertion 20981092
esv3440391 CNV insertion 20981092
esv3566421 CNV deletion 23714750
esv3570332 CNV loss 25503493
esv3575869 CNV gain 25503493
esv3606201 CNV loss 21293372
esv3606203 CNV loss 21293372
esv3606205 CNV loss 21293372
esv3606206 CNV loss 21293372
esv998139 CNV insertion 20482838
nsv1017067 CNV loss 25217958
nsv1029650 CNV loss 25217958
nsv1128180 CNV deletion 24896259
nsv327830 CNV deletion 16902084
nsv471924 CNV novel sequence insertion 20440878
nsv472808 CNV novel sequence insertion 20440878
nsv4950 CNV deletion 18451855
nsv499245 CNV loss 21111241
nsv518369 CNV loss 19592680
nsv518663 CNV loss 19592680
nsv599335 CNV loss 21841781
nsv599336 CNV loss 21841781
nsv599337 CNV loss 21841781
nsv830440 CNV gain 17160897
nsv830441 CNV loss 17160897
nsv830442 CNV gain 17160897

Variation tolerance for FBXL17 Gene

Gene Damage Index Score: 3.42; 54.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXL17 Gene

Human Gene Mutation Database (HGMD)
FBXL17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL17 Gene

Disorders for FBXL17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXL17 Gene - From: DISEASES

Disorder Aliases PubMed IDs
proprotein convertase 1/3 deficiency
  • obesity and endocrinopathy due to impaired processing of prohormones
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXL17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FBXL17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXL17 Gene

Publications for FBXL17 Gene

  1. Dimerization quality control ensures neuronal development and survival. (PMID: 30190310) Mena EL … Rape M (Science (New York, N.Y.) 2018) 3 4
  2. SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling and medulloblastoma development. (PMID: 27234298) Raducu M … D'Angiolella V (The EMBO journal 2016) 3 4
  3. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PMID: 24035498) Tan MK … Harper JW (Molecular cell 2013) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for FBXL17 Gene

Sources for FBXL17 Gene