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: Fb... See more...

Aliases for FBH1 Gene

Aliases for FBH1 Gene

  • F-Box DNA Helicase 1 2 3 4 5
  • F-Box Protein, Helicase, 18 2 3
  • F-Box Only Protein 18 2 4
  • FBXO18 3 4
  • HFBH1 3 4
  • F-Box Only Protein, Helicase, 18 3
  • EC 3.6.4.12 4
  • Fbx18 3
  • FBX18 4

External Ids for FBH1 Gene

Previous HGNC Symbols for FBH1 Gene

  • FBXO18

Summaries for FBH1 Gene

Entrez Gene Summary for FBH1 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 FBH1 Gene

FBH1 (F-Box DNA Helicase 1) is a Protein Coding gene. Diseases associated with FBH1 include Fanconi Anemia, Complementation Group A.

UniProtKB/Swiss-Prot Summary for FBH1 Gene

  • 3'-5' DNA helicase and substrate-recognition component of the SCF(FBH1) 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(FBH1) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578).

Additional gene information for FBH1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBH1 Gene

Genomics for FBH1 Gene

GeneHancer (GH) Regulatory Elements for FBH1 Gene

Promoters and enhancers for FBH1 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 FBH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBH1

Genomic Locations for FBH1 Gene

Genomic Locations for FBH1 Gene
chr10:5,889,572-5,937,595
(GRCh38/hg38)
Size:
48,024 bases
Orientation:
Plus strand
chr10:5,931,535-5,979,556
(GRCh37/hg19)
Size:
48,022 bases
Orientation:
Plus strand

Genomic View for FBH1 Gene

Genes around FBH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBH1 Gene

Proteins for FBH1 Gene

  • Protein details for FBH1 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 FBH1 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(FBH1) composed of CUL1, SKP1, RBX1 and FBH1 (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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55073.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55154.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FBH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBH1 Gene

Post-translational modifications for FBH1 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 Lys301
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBH1 Gene

Domains & Families for FBH1 Gene

Gene Families for FBH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FBH1 Gene

GenScript: Design optimal peptide antigens:
  • FBXO18 protein (A0JLR1_HUMAN)
  • cDNA FLJ16282 fis, clone NT2RI3005416, highly similar to F-box only protein 18 (EC 3.6.1.-) (B3KV95_HUMAN)
  • F-box DNA helicase 1 (FBX18_HUMAN)
  • F-box protein, helicase, 18 (Q14DG0_HUMAN)
  • cDNA, FLJ96150, Homo sapiens likely ortholog of mouse f-box only protein 18 (FBXO18), mRNA (Q2TAK1_HUMAN)

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.
Family:
  • Belongs to the helicase family. UvrD subfamily.
genes like me logo Genes that share domains with FBH1: view

Function for FBH1 Gene

Molecular function for FBH1 Gene

UniProtKB/Swiss-Prot Function:
3'-5' DNA helicase and substrate-recognition component of the SCF(FBH1) 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(FBH1) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence=. ;.

Enzyme Numbers (IUBMB) for FBH1 Gene

Phenotypes From GWAS Catalog for FBH1 Gene

Gene Ontology (GO) - Molecular Function for FBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA,IMP 23361013
GO:0003690 double-stranded DNA binding IDA 23393192
GO:0003697 single-stranded DNA binding IDA 19736316
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with FBH1: view
genes like me logo Genes that share phenotypes with FBH1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBH1 Gene

Localization for FBH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBH1 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
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 FBH1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1
plasma membrane 0
extracellular 0

Gene Ontology (GO) - Cellular Components for FBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 23319600
GO:0005634 nucleus IDA,IBA 19736316
GO:0005694 chromosome IEA --
GO:0019005 SCF ubiquitin ligase complex IDA 11956208
genes like me logo Genes that share ontologies with FBH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FBH1 Gene

Pathways & Interactions for FBH1 Gene

PathCards logo

SuperPathways for FBH1 Gene

No Data Available

UniProtKB/Swiss-Prot Q8NFZ0-FBH1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA,ISS --
GO:0000725 recombinational repair IBA 21873635
GO:0000737 DNA catabolic process, endonucleolytic IMP 23361013
GO:0001934 positive regulation of protein phosphorylation IMP 23361013
GO:0006281 DNA repair IBA 21873635
genes like me logo Genes that share ontologies with FBH1: view

No data available for Pathways by source and SIGNOR curated interactions for FBH1 Gene

Drugs & Compounds for FBH1 Gene

(3) Drugs for FBH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for FBH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with FBH1: view

Transcripts for FBH1 Gene

mRNA/cDNA for FBH1 Gene

4 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
16 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 FBH1 Gene

No ASD Table

Relevant External Links for FBH1 Gene

GeneLoc Exon Structure for
FBH1

Expression for FBH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBH1

Evidence on tissue expression from TISSUES for FBH1 Gene

  • Nervous system(4.7)
  • Pancreas(4.5)
  • Lung(2.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBH1 Gene

Orthologs for FBH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO18 31 30
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO18 31 30
  • 87.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo18 31 30
  • 87.33 (n)
OneToOne
Fbh1 17
rat
(Rattus norvegicus)
Mammalia Fbxo18 30
  • 87.01 (n)
cow
(Bos Taurus)
Mammalia FBXO18 31 30
  • 84.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXO18 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO18 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO18 31 30
  • 60.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO18 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo18 30
  • 59.24 (n)
Str.15338 30
zebrafish
(Danio rerio)
Actinopterygii fbxo18 31 30
  • 56 (n)
OneToOne
Species where no ortholog for FBH1 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 FBH1 Gene

ENSEMBL:
Gene Tree for FBH1 (if available)
TreeFam:
Gene Tree for FBH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBH1: view image

Paralogs for FBH1 Gene

No data available for Paralogs for FBH1 Gene

Variants for FBH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBH1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs193921138 Uncertain Significance: Malignant tumor of prostate 5,921,264(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FBH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FBH1 Gene

Variant ID Type Subtype PubMed ID
dgv1e49 CNV loss 18971310
dgv666n100 CNV gain 25217958
esv1007377 CNV insertion 20482838
esv1168062 CNV insertion 17803354
esv3891745 CNV loss 25118596
esv5719 CNV loss 19470904
esv5814 CNV gain 19470904
nsv1076764 CNV insertion 25765185
nsv1118070 CNV deletion 24896259
nsv549906 CNV loss 21841781
nsv825229 CNV gain 20364138
nsv831775 CNV loss 17160897

Variation tolerance for FBH1 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)

Additional Variant Information for FBH1 Gene

Human Gene Mutation Database (HGMD)
FBH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBH1 Gene

Disorders for FBH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search FBH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FBH1_HUMAN
  • Note=Defects in FBH1 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}.

Additional Disease Information for FBH1

genes like me logo Genes that share disorders with FBH1: view

No data available for Genatlas for FBH1 Gene

Publications for FBH1 Gene

  1. The novel human DNA helicase hFBH1 is an F-box protein. (PMID: 11956208) Kim J … Seo YS (The Journal of biological chemistry 2002) 2 3 4 54
  2. FBH1 influences DNA replication fork stability and homologous recombination through ubiquitylation of RAD51. (PMID: 25585578) Chu WK … Hickson ID (Nature communications 2015) 3 4 54
  3. FBH1 co-operates with MUS81 in inducing DNA double-strand breaks and cell death following replication stress. (PMID: 23361013) Fugger K … Sørensen CS (Nature communications 2013) 3 4 54
  4. FBH1 promotes DNA double-strand breakage and apoptosis in response to DNA replication stress. (PMID: 23319600) Jeong YT … Pagano M (The Journal of cell biology 2013) 3 4 54
  5. The helicase FBH1 is tightly regulated by PCNA via CRL4(Cdt2)-mediated proteolysis in human cells. (PMID: 23677613) Bacquin A … Kannouche PL (Nucleic acids research 2013) 3 4 54

Products for FBH1 Gene

Sources for FBH1 Gene