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Aliases for FBXO18 Gene

Aliases for FBXO18 Gene

  • F-Box Protein, Helicase, 18 2 3 5
  • F-Box Only Protein 18 2 3 4
  • Fbx18 3 4
  • HFBH1 3 4
  • FBH1 3 4
  • F-Box Only Protein, Helicase, 18 3
  • EC 3.6.4.12 4

External Ids for FBXO18 Gene

Previous GeneCards Identifiers for FBXO18 Gene

  • GC10P005876
  • GC10P006082
  • GC10P005936
  • GC10P005972

Summaries for FBXO18 Gene

Entrez Gene Summary for FBXO18 Gene

  • This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBXO18 Gene

FBXO18 (F-Box Protein, Helicase, 18) is a Protein Coding gene. GO annotations related to this gene include ATP-dependent DNA helicase activity.

UniProtKB/Swiss-Prot for FBXO18 Gene

  • 3-5 DNA helicase and substrate-recognition component of the SCF(FBXO18) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks (PubMed:11956208, PubMed:23393192). Involved in genome maintenance by acting as an anti-recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination (PubMed:17724085, PubMed:19736316). Also promotes cell death and DNA double-strand breakage in response to replication stress: together with MUS81, promotes the endonucleolytic DNA cleavage following prolonged replication stress via its helicase activity, possibly to eliminate cells with excessive replication stress (PubMed:23319600, PubMed:23361013). Plays a major role in remodeling of stalled DNA forks by catalyzing fork regression, in which the fork reverses and the two nascent DNA strands anneal (PubMed:25772361). In addition to the helicase activity, also acts as the substrate-recognition component of the SCF(FBXO18) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO18 Gene

Genomics for FBXO18 Gene

Regulatory Elements for FBXO18 Gene

Promoters for FBXO18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBXO18 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBXO18 Gene

Chromosome:
10
Start:
5,889,572 bp from pter
End:
5,937,595 bp from pter
Size:
48,024 bases
Orientation:
Plus strand

Genomic View for FBXO18 Gene

Genes around FBXO18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO18 Gene

Proteins for FBXO18 Gene

  • Protein details for FBXO18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFZ0-FBH1_HUMAN
    Recommended name:
    F-box DNA helicase 1
    Protein Accession:
    Q8NFZ0
    Secondary Accessions:
    • Q5JVB0
    • Q5JVB1
    • Q7Z4Q6
    • Q7Z4R0
    • Q8N1P5
    • Q8N586
    • Q96E82
    • Q96K67
    • Q96SW7
    • Q9UFB2

    Protein attributes for FBXO18 Gene

    Size:
    1043 amino acids
    Molecular mass:
    117686 Da
    Quaternary structure:
    • Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO18) composed of CUL1, SKP1, RBX1 and FBXO18 (PubMed:11956208, PubMed:19736316, PubMed:23319600). Interacts with RAD51 (PubMed:23393192). Interacts with RPA2 (PubMed:23319600). Interacts (via PIP-box and RanBP2-type zinc finger) with PCNA (PubMed:23677613).
    SequenceCaution:
    • Sequence=AAM73631.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55073.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FBXO18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO18 Gene

Proteomics data for FBXO18 Gene at MOPED

Post-translational modifications for FBXO18 Gene

  • Ubiquitinated (PubMed:23393192, PubMed:23677613). Ubiquitination by the DCX(DTL) complex, also named CRL4(CDT2), leading to its degradation: ubiquitination takes place after its localization to DNA damage sites, possibly to facilitate the translesion synthesis (TLS) pathway (PubMed:23677613).
  • Ubiquitination at Lys 301
  • Modification sites at PhosphoSitePlus

Other Protein References for FBXO18 Gene

No data available for DME Specific Peptides for FBXO18 Gene

Domains & Families for FBXO18 Gene

Gene Families for FBXO18 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NFZ0

UniProtKB/Swiss-Prot:

FBH1_HUMAN :
  • The PIP-box mediates the interaction with PCNA.
  • Belongs to the helicase family. UvrD subfamily.
Domain:
  • The PIP-box mediates the interaction with PCNA.
  • Contains 1 F-box domain.
  • Contains 1 uvrD-like helicase ATP-binding domain.
Family:
  • Belongs to the helicase family. UvrD subfamily.
genes like me logo Genes that share domains with FBXO18: view

Function for FBXO18 Gene

Molecular function for FBXO18 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
3-5 DNA helicase and substrate-recognition component of the SCF(FBXO18) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks (PubMed:11956208, PubMed:23393192). Involved in genome maintenance by acting as an anti-recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination (PubMed:17724085, PubMed:19736316). Also promotes cell death and DNA double-strand breakage in response to replication stress: together with MUS81, promotes the endonucleolytic DNA cleavage following prolonged replication stress via its helicase activity, possibly to eliminate cells with excessive replication stress (PubMed:23319600, PubMed:23361013). Plays a major role in remodeling of stalled DNA forks by catalyzing fork regression, in which the fork reverses and the two nascent DNA strands anneal (PubMed:25772361). In addition to the helicase activity, also acts as the substrate-recognition component of the SCF(FBXO18) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578).

Enzyme Numbers (IUBMB) for FBXO18 Gene

Gene Ontology (GO) - Molecular Function for FBXO18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 23393192
GO:0003697 single-stranded DNA binding IDA 19736316
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with FBXO18: view
genes like me logo Genes that share phenotypes with FBXO18: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO18 Gene

Localization for FBXO18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO18 Gene

Nucleus. Chromosome. Note=Accumulates at sites of DNA damage or replication stress (PubMed:19736316, PubMed:23677613). PCNA is required for localization to DNA damage sites (PubMed:23677613). Localizes to the nucleoplasm in absence of DNA damage (PubMed:23677613). {ECO:0000269 PubMed:19736316, ECO:0000269 PubMed:23677613}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBXO18 Gene COMPARTMENTS Subcellular localization image for FBXO18 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for FBXO18 Gene

Pathways & Interactions for FBXO18 Gene

SuperPathways for FBXO18 Gene

No Data Available

UniProtKB/Swiss-Prot Q8NFZ0-FBH1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXO18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination ISS --
GO:0000737 DNA catabolic process, endonucleolytic IMP 23361013
GO:0016567 protein ubiquitination IEA --
GO:0032508 DNA duplex unwinding IEA,IMP 23361013
GO:0048478 replication fork protection IEA,ISS --
genes like me logo Genes that share ontologies with FBXO18: view

No data available for Pathways by source and SIGNOR curated interactions for FBXO18 Gene

Drugs & Compounds for FBXO18 Gene

(1) Drugs for FBXO18 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for FBXO18 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with FBXO18: view

Transcripts for FBXO18 Gene

Unigene Clusters for FBXO18 Gene

F-box protein, helicase, 18:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO18 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^
SP1: - - -
SP2: - - - - - - -
SP3:
SP4:
SP5: - - -
SP6: - - - - - - - - - - - -
SP7: - - - -
SP8: - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:

Relevant External Links for FBXO18 Gene

GeneLoc Exon Structure for
FBXO18
ECgene alternative splicing isoforms for
FBXO18

Expression for FBXO18 Gene

mRNA expression in normal human tissues for FBXO18 Gene

Protein differential expression in normal tissues from HIPED for FBXO18 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (43.4), Fetal ovary (11.2), and Heart (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBXO18 Gene



SOURCE GeneReport for Unigene cluster for FBXO18 Gene Hs.498543

genes like me logo Genes that share expression patterns with FBXO18: view

Protein tissue co-expression partners for FBXO18 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FBXO18 Gene

Orthologs for FBXO18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO18 35
  • 99.17 (n)
  • 98.89 (a)
FBXO18 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXO18 36
  • 89 (a)
OneToOne
FBXO18 35
  • 84.9 (n)
  • 89.25 (a)
dog
(Canis familiaris)
Mammalia FBXO18 35
  • 87.92 (n)
  • 92.52 (a)
FBXO18 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo18 16
Fbxo18 36
  • 90 (a)
OneToOne
Fbxo18 35
  • 87.33 (n)
  • 90.47 (a)
oppossum
(Monodelphis domestica)
Mammalia FBXO18 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO18 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo18 35
  • 87.01 (n)
  • 90.28 (a)
chicken
(Gallus gallus)
Aves FBXO18 35
  • 60.51 (n)
  • 54.18 (a)
FBXO18 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO18 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo18 35
  • 59.24 (n)
  • 55.75 (a)
Str.15338 35
zebrafish
(Danio rerio)
Actinopterygii fbxo18 36
  • 47 (a)
OneToOne
fbxo18 35
  • 56 (n)
  • 50.15 (a)
Species with no ortholog for FBXO18:
  • 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 FBXO18 Gene

ENSEMBL:
Gene Tree for FBXO18 (if available)
TreeFam:
Gene Tree for FBXO18 (if available)

Paralogs for FBXO18 Gene

No data available for Paralogs for FBXO18 Gene

Variants for FBXO18 Gene

Sequence variations from dbSNP and Humsavar for FBXO18 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs609269 -- 5,920,498(-) ccttt(A/G)cagaa intron-variant
rs610093 -- 5,920,672(-) GTGAA(G/T)AGCAG intron-variant
rs675416 -- 5,926,515(-) CAAAC(A/G)GTTTT intron-variant
rs679610 -- 5,905,802(-) ACATG(A/G)TGTGA intron-variant
rs680020 -- 5,931,387(+) TGCAC(C/T)GTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO18 Gene

Variant ID Type Subtype PubMed ID
dgv1e49 CNV Loss 18971310
nsv831775 CNV Loss 17160897
nsv825229 CNV Gain 20364138
esv5719 CNV Loss 19470904
esv1007377 CNV Insertion 20482838
esv1168062 CNV Insertion 17803354

Variation tolerance for FBXO18 Gene

Residual Variation Intolerance Score: 6.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO18 Gene

HapMap Linkage Disequilibrium report
FBXO18
Human Gene Mutation Database (HGMD)
FBXO18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO18 Gene

Disorders for FBXO18 Gene

UniProtKB/Swiss-Prot

FBH1_HUMAN
  • Note=Defects in FBXO18 are frequently observed in melanomas, resulting in increased survival in response to replicative stress. Its inactivation may play a role in oncogenic transformation. {ECO:0000269 PubMed:23466708}.

Relevant External Links for FBXO18

Genetic Association Database (GAD)
FBXO18
Human Genome Epidemiology (HuGE) Navigator
FBXO18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO18

No disorders were found for FBXO18 Gene.

No data available for MalaCards and Genatlas for FBXO18 Gene

Publications for FBXO18 Gene

  1. The novel human DNA helicase hFBH1 is an F-box protein. (PMID: 11956208) Kim J. … Seo Y.-S. (J. Biol. Chem. 2002) 2 3 4 67
  2. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3
  3. FBH1 influences DNA replication fork stability and homologous recombination through ubiquitylation of RAD51. (PMID: 25585578) Chu W.K. … Hickson I.D. (Nat. Commun. 2015) 3
  4. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Marechal A. … Zou L. (Mol. Cell 2014) 3
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3

Products for FBXO18 Gene

Sources for FBXO18 Gene

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