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 an... See more...

Aliases for FBXL18 Gene

Aliases for FBXL18 Gene

  • F-Box And Leucine Rich Repeat Protein 18 2 3 5
  • F-Box/LRR-Repeat Protein 18 3 4
  • F-Box And Leucine-Rich Repeat Protein 18 4
  • Fbl18 3
  • FBL18 4

External Ids for FBXL18 Gene

Previous GeneCards Identifiers for FBXL18 Gene

  • GC07M005217
  • GC07M005244
  • GC07M005437
  • GC07M005428
  • GC07M005470

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 and Parkinson Disease 15, Autosomal Recessive Early-Onset. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is FBXL20.

UniProtKB/Swiss-Prot Summary for FBXL18 Gene

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

Additional gene information for FBXL18 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXL18 Gene

Genomics for FBXL18 Gene

GeneHancer (GH) Regulatory Elements for FBXL18 Gene

Promoters and enhancers for FBXL18 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXL18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXL18

Top Transcription factor binding sites by QIAGEN in the FBXL18 gene promoter:
  • p53
  • Sp1
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for FBXL18 Gene

Genomic Locations for FBXL18 Gene
chr7:5,431,335-5,513,809
(GRCh38/hg38)
Size:
82,475 bases
Orientation:
Minus strand
chr7:5,470,966-5,553,429
(GRCh37/hg19)
Size:
82,464 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

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

Suggested Antigen Peptide Sequences for FBXL18 Gene

GenScript: Design optimal peptide antigens:
  • F-box and leucine-rich repeat protein 18 (FXL18_HUMAN)
genes like me logo Genes that share domains with FBXL18: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for FBXL18 Gene

Gene Ontology (GO) - Molecular Function for FBXL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0061630 contributes_to ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with FBXL18: view
genes like me logo Genes that share phenotypes with FBXL18: view

Animal Models for FBXL18 Gene

MGI Knock Outs for FBXL18:
  • Fbxl18 Fbxl18<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for FBXL18 Gene

miRTarBase miRNAs that target FBXL18

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
nucleus 4
cytosol 4
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IBA 21873635
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:0000086 G2/M transition of mitotic cell cycle IBA 21873635
GO:0000209 protein polyubiquitination TAS --
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA,TAS --
GO:0043687 post-translational protein modification TAS --
GO:0051726 regulation of cell cycle IBA 21873635
genes like me logo Genes that share ontologies with FBXL18: view

No data available for SIGNOR curated interactions for FBXL18 Gene

Drugs & Compounds for FBXL18 Gene

No Compound Related Data Available

Transcripts for FBXL18 Gene

mRNA/cDNA for FBXL18 Gene

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

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FBXL18 Gene

GeneLoc Exon Structure for
FBXL18

Expression for FBXL18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FBXL18 Gene



Protein tissue co-expression partners for FBXL18 Gene

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

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 31 30
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXL18 31 30
  • 88.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxl18 30
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Fbxl18 17 31 30
  • 86.73 (n)
cow
(Bos Taurus)
Mammalia FBXL18 31 30
  • 86.22 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXL18 31
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXL18 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXL18 31 30
  • 74.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXL18 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxl18 30
  • 63.3 (n)
zebrafish
(Danio rerio)
Actinopterygii fbxl18 31 30
  • 58.31 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for FBXL18: view image

Paralogs for FBXL18 Gene

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

  • FXL18_HUMAN
  • F5H4Z4_HUMAN
  • H0Y6I6_HUMAN
  • Q96D16_HUMAN
genes like me logo Genes that share paralogs with FBXL18: view

Variants for FBXL18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXL18 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
726132 Benign: not provided 5,500,919(-) C/T SYNONYMOUS_VARIANT
786894 Benign: not provided 5,500,614(-) T/C MISSENSE_VARIANT
rs33941092 - p.Asn552Lys

Additional dbSNP identifiers (rs#s) for FBXL18 Gene

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)

Additional Variant Information 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

(2) MalaCards diseases for FBXL18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
baraitser-winter syndrome
  • iris coloboma with ptosis, hypertelorism, and mental retardation
parkinson disease 15, autosomal recessive early-onset
  • pps
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for FBXL18 Gene

Sources for FBXL18 Gene