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    FBH1 F-box DNA helicase 1 [ Homo sapiens (human) ]

    Gene ID: 84893, updated on 5-Aug-2018

    Summary

    Official Symbol
    FBH1provided by HGNC
    Official Full Name
    F-box DNA helicase 1provided by HGNC
    Primary source
    HGNC:HGNC:13620
    See related
    Ensembl:ENSG00000134452 MIM:607222; Vega:OTTHUMG00000017609
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Fbx18; hFBH1; FBXO18
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 14.4), spleen (RPKM 12.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See FBH1 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (5889572..5937595)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5931535..5979558)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene transfer RNA-Val (TAC) 3-1 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene ankyrin repeat domain 16 Neighboring gene uncharacterized LOC105376384 Neighboring gene uncharacterized LOC107984200 Neighboring gene interleukin 15 receptor subunit alpha Neighboring gene interleukin 2 receptor subunit alpha Neighboring gene uncharacterized LOC107984201

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of F-box protein, helicase 18 (FBXO18) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14590, MGC131916, MGC141935, MGC141937

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP-dependent DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA translocase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA catabolic process, endonucleolytic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell death IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication fork protection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    replication fork protection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to intra-S DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box DNA helicase 1
    Names
    F-box only protein, helicase, 18
    F-box protein, helicase, 18
    NP_001245381.1
    NP_001245382.1
    NP_116196.3
    NP_835363.1
    XP_011518050.1
    XP_016872331.1
    XP_016872332.1
    XP_016872333.1
    XP_016872334.1
    XP_016872335.1
    XP_024304008.1
    XP_024304009.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047206.1 RefSeqGene

      Range
      5001..53024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258452.1NP_001245381.1  F-box DNA helicase 1 isoform 3

      See identical proteins and their annotated locations for NP_001245381.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs at the 5' end and contains an additional in-frame coding exon compared to variant 1, which results in translation initiation from an in-frame downstream AUG, and a shorter isoform (3) with an internal protein segment not found in isoform 1.
      Source sequence(s)
      AF380349, AI818794, AK122753, CN478453
      Consensus CDS
      CCDS73064.1
      UniProtKB/Swiss-Prot
      Q8NFZ0
      UniProtKB/TrEMBL
      B3KV95, F6UZG9
      Conserved Domains (4) summary
      COG0210
      Location:366875
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:138187
      F-box-like; F-box-like
      pfam13538
      Location:814875
      UvrD_C_2; UvrD-like helicase C-terminal domain
      cl21455
      Location:367611
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001258453.1NP_001245382.1  F-box DNA helicase 1 isoform 4

      See identical proteins and their annotated locations for NP_001245382.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (4) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI818794, BC110884, CN478453, DA326341, DB099150
      UniProtKB/Swiss-Prot
      Q8NFZ0
      UniProtKB/TrEMBL
      Q2TAK1
      Conserved Domains (2) summary
      COG0210
      Location:366858
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:138185
      F-box-like; F-box-like
    3. NM_032807.4NP_116196.3  F-box DNA helicase 1 isoform 1

      See identical proteins and their annotated locations for NP_116196.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF380349, AI818794, CN478453
      Consensus CDS
      CCDS7073.1
      UniProtKB/Swiss-Prot
      Q8NFZ0
      Related
      ENSP00000369335.5, OTTHUMP00000019017, ENST00000379999.6, OTTHUMT00000046597
      Conserved Domains (4) summary
      COG0210
      Location:491983
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:263312
      F-box-like; F-box-like
      pfam13538
      Location:922983
      UvrD_C_2; UvrD-like helicase C-terminal domain
      cl21455
      Location:492736
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_178150.2NP_835363.1  F-box DNA helicase 1 isoform 2

      See identical proteins and their annotated locations for NP_835363.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI818794, BC113377, CN478453, DA326341, DB099150
      Consensus CDS
      CCDS7072.1
      UniProtKB/Swiss-Prot
      Q8NFZ0
      Related
      ENSP00000355415.4, OTTHUMP00000019016, ENST00000362091.8, OTTHUMT00000046596
      Conserved Domains (4) summary
      COG0210
      Location:440932
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:212261
      F-box-like; F-box-like
      pfam13538
      Location:871932
      UvrD_C_2; UvrD-like helicase C-terminal domain
      cl21455
      Location:441685
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      5889572..5937595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519748.2XP_011518050.1  F-box DNA helicase 1 isoform X2

      See identical proteins and their annotated locations for XP_011518050.1

      UniProtKB/Swiss-Prot
      Q8NFZ0
      Conserved Domains (4) summary
      COG0210
      Location:491983
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:263312
      F-box-like; F-box-like
      pfam13538
      Location:922983
      UvrD_C_2; UvrD-like helicase C-terminal domain
      cl21455
      Location:492736
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_017016844.2XP_016872333.1  F-box DNA helicase 1 isoform X3

      Conserved Domains (4) summary
      COG0210
      Location:440949
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:212261
      F-box-like; F-box-like
      pfam13538
      Location:888949
      UvrD_C_2; UvrD-like helicase C-terminal domain
      cl21455
      Location:441685
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_017016843.1XP_016872332.1  F-box DNA helicase 1 isoform X1

    4. XM_024448240.1XP_024304008.1  F-box DNA helicase 1 isoform X5

      Related
      ENSP00000380439.4, ENST00000397269.7
    5. XM_024448241.1XP_024304009.1  F-box DNA helicase 1 isoform X6

      Conserved Domains (2) summary
      COG0210
      Location:366858
      UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
      pfam12937
      Location:138185
      F-box-like; F-box-like
    6. XM_017016846.2XP_016872335.1  F-box DNA helicase 1 isoform X7

    7. XM_017016842.1XP_016872331.1  F-box DNA helicase 1 isoform X1

    8. XM_017016845.1XP_016872334.1  F-box DNA helicase 1 isoform X4

    RNA

    1. XR_001747243.2 RNA Sequence

    2. XR_001747244.2 RNA Sequence

    3. XR_002957028.1 RNA Sequence

    4. XR_002957026.1 RNA Sequence

    5. XR_001747242.2 RNA Sequence

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