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Aliases for FBXL18 Gene

Aliases for FBXL18 Gene

  • F-Box And Leucine Rich Repeat Protein 18 2 3 5
  • Fbl18 3 4
  • F-Box And Leucine-Rich Repeat Protein 18 4
  • F-Box/LRR-Repeat Protein 18 3

External Ids for FBXL18 Gene

Previous GeneCards Identifiers for FBXL18 Gene

  • GC07M005217
  • GC07M005244
  • GC07M005437
  • GC07M005428

Summaries for FBXL18 Gene

Entrez Gene Summary for FBXL18 Gene

  • The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]

GeneCards Summary for FBXL18 Gene

FBXL18 (F-Box And Leucine Rich Repeat Protein 18) is a Protein Coding gene. Diseases associated with FBXL18 include Baraitser-Winter Syndrome. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.

UniProtKB/Swiss-Prot for FBXL18 Gene

  • Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXL18 Gene

Genomics for FBXL18 Gene

Regulatory Elements for FBXL18 Gene

Enhancers for FBXL18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G005687 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -180.9 -180922 15.0 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 YY1 TCF12 ELK1 ZNF143 FOS USP42 RNF216P1 ENSG00000198580 C7orf26 ENSG00000228010 ACTB ZNF316 FBXL18 MIR589 FSCN1
GH07G005632 1.9 VISTA Ensembl ENCODE dbSUPER 12.2 -122.5 -122498 8.0 PKNOX1 SIN3A RAD21 ETS1 SCRT2 FOS EGR2 ZNF654 ZNF362 SMAD5 ACTB FBXL18 MIR589 ZNF815P EIF2AK1 FSCN1 RNF216-IT1
GH07G005676 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -165.8 -165844 6.5 CTCF USF1 MAX RAD21 ZFHX2 ZNF316 POLR2A EED ZNF143 SMC3 ACTB FBXL18 FSCN1 MIR589 ZNF815P USP42 RNF216-IT1
GH07G005702 1.4 Ensembl ENCODE dbSUPER 12.7 -190.1 -190136 2.6 ELF3 HDGF ARNT ARID4B RAD21 RFX5 YY1 ZNF143 FOS CREM FBXL18 MIR589 ACTB FSCN1 C7orf26 ZNF316 MIR6874 RNF216-IT1
GH07G005561 1.4 ENCODE dbSUPER 12.5 -49.0 -49043 2.6 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 CBX5 ZNF207 ZNF143 FOS FBXL18 MIR589 FSCN1 LOC100288712 ACTB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXL18 on UCSC Golden Path with GeneCards custom track

Promoters for FBXL18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000208097 105 1401 HDGF PKNOX1 FOXA2 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for FBXL18 Gene

Chromosome:
7
Start:
5,431,335 bp from pter
End:
5,513,805 bp from pter
Size:
82,471 bases
Orientation:
Minus strand

Genomic View for FBXL18 Gene

Genes around FBXL18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXL18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL18 Gene

Proteins for FBXL18 Gene

  • Protein details for FBXL18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ME1-FXL18_HUMAN
    Recommended name:
    F-box/LRR-repeat protein 18
    Protein Accession:
    Q96ME1
    Secondary Accessions:
    • Q9BR90
    • Q9BTC7
    • Q9HAK7

    Protein attributes for FBXL18 Gene

    Size:
    805 amino acids
    Molecular mass:
    88341 Da
    Quaternary structure:
    • Directly interacts with SKP1 and CUL1.
    SequenceCaution:
    • Sequence=BAB13838.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FBXL18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXL18 Gene

Post-translational modifications for FBXL18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXL18 Gene

No data available for DME Specific Peptides for FBXL18 Gene

Domains & Families for FBXL18 Gene

Gene Families for FBXL18 Gene

Protein Domains for FBXL18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBXL18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXL18: view

No data available for UniProtKB/Swiss-Prot for FBXL18 Gene

Function for FBXL18 Gene

Molecular function for FBXL18 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

Gene Ontology (GO) - Molecular Function for FBXL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with FBXL18: view
genes like me logo Genes that share phenotypes with FBXL18: view

Animal Model Products

CRISPR Products

miRNA for FBXL18 Gene

miRTarBase miRNAs that target FBXL18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXL18 Gene

Localization for FBXL18 Gene

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 FBXL18 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FBXL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FBXL18: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXL18 Gene

Pathways & Interactions for FBXL18 Gene

genes like me logo Genes that share pathways with FBXL18: view

Gene Ontology (GO) - Biological Process for FBXL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXL18: view

No data available for SIGNOR curated interactions for FBXL18 Gene

Transcripts for FBXL18 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL18 Gene

No ASD Table

Relevant External Links for FBXL18 Gene

GeneLoc Exon Structure for
FBXL18
ECgene alternative splicing isoforms for
FBXL18

Expression for FBXL18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXL18 Gene

Protein differential expression in normal tissues from HIPED for FBXL18 Gene

This gene is overexpressed in Breast (27.2) and Frontal cortex (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXL18 Gene



Protein tissue co-expression partners for FBXL18 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXL18 Gene:

FBXL18

SOURCE GeneReport for Unigene cluster for FBXL18 Gene:

Hs.623974

Evidence on tissue expression from TISSUES for FBXL18 Gene

  • Skin(4.6)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with FBXL18: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL18 Gene

Orthologs for FBXL18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXL18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXL18 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia FBXL18 34 35
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Fbxl18 34
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Fbxl18 16 35 34
  • 86.73 (n)
cow
(Bos Taurus)
Mammalia FBXL18 34 35
  • 86.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXL18 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXL18 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXL18 34 35
  • 74.84 (n)
lizard
(Anolis carolinensis)
Reptilia FBXL18 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxl18 34
  • 63.3 (n)
zebrafish
(Danio rerio)
Actinopterygii fbxl18 34 35
  • 58.31 (n)
Species where no ortholog for FBXL18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBXL18 Gene

ENSEMBL:
Gene Tree for FBXL18 (if available)
TreeFam:
Gene Tree for FBXL18 (if available)

Paralogs for FBXL18 Gene

(1) SIMAP similar genes for FBXL18 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FBXL18: view

No data available for Paralogs for FBXL18 Gene

Variants for FBXL18 Gene

Sequence variations from dbSNP and Humsavar for FBXL18 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000003585 -- 5,493,205(+) TGGCA(C/T)GCACC intron-variant
rs1000004388 -- 5,464,128(+) ATCAC(A/G)AGGCC intron-variant
rs1000013631 -- 5,472,624(+) ACATG(A/G)AGGTG intron-variant
rs1000060219 -- 5,483,994(+) GTTTC(A/G)GCAAT intron-variant
rs1000098776 -- 5,463,972(+) CTGAC(C/T)TCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXL18 Gene

Variant ID Type Subtype PubMed ID
dgv3482n106 OTHER inversion 24896259
esv2671867 CNV deletion 23128226
esv2733912 CNV deletion 23290073
esv3611974 CNV loss 21293372
esv3611975 CNV loss 21293372
nsv436904 CNV insertion 17901297
nsv471304 CNV loss 18288195
nsv517558 CNV loss 19592680
nsv526194 CNV gain 19592680
nsv823999 CNV gain 20364138
nsv830890 CNV loss 17160897

Variation tolerance for FBXL18 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXL18 Gene

Human Gene Mutation Database (HGMD)
FBXL18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL18 Gene

Disorders for FBXL18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXL18 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
baraitser-winter syndrome
  • brws
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FBXL18

Genetic Association Database (GAD)
FBXL18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXL18
genes like me logo Genes that share disorders with FBXL18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXL18 Gene

Publications for FBXL18 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. F-box protein Fbxl18 mediates polyubiquitylation and proteasomal degradation of the pro-apoptotic SCF subunit Fbxl7. (PMID: 25654763) Liu Y. … Mallampalli R.K. (Cell Death Dis 2015) 3 64
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for FBXL18 Gene

Sources for FBXL18 Gene

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