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

    Gene ID: 84893, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:13620
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBH1 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5889572..5937593)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5890100..5938280)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5931535..5979556)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak856 silencer Neighboring gene tRNA-Val (anticodon TAC) 3-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2943 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene ankyrin repeat domain 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2092 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:5958854-5960053 Neighboring gene MPRA-validated peak859 silencer Neighboring gene uncharacterized LOC105376384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:5987078-5987636 Neighboring gene uncharacterized LOC107984200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6006433-6006934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6006935-6007434 Neighboring gene interleukin 15 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2094 Neighboring gene Sharpr-MPRA regulatory region 4656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2946 Neighboring gene uncharacterized LOC124902368 Neighboring gene small nucleolar RNA SNORA14 Neighboring gene interleukin 2 receptor subunit alpha

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ14590, MGC131916, MGC141935, MGC141937

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 3'-5' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA translocase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to intra-S DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box DNA helicase 1
    Names
    DNA 3'-5' helicase 1
    F-box only protein, helicase, 18
    F-box protein, helicase, 18
    NP_001245381.1
    NP_001245382.1
    NP_116196.3
    NP_835363.1
    XP_016872331.1
    XP_016872333.1
    XP_016872334.1
    XP_024304008.1
    XP_024304009.1
    XP_047281848.1
    XP_047281849.1
    XP_047281850.1
    XP_047281851.1
    XP_047281852.1
    XP_047281853.1
    XP_047281854.1
    XP_047281855.1
    XP_047281856.1
    XP_047281857.1
    XP_047281858.1
    XP_047281859.1
    XP_047281860.1
    XP_047281861.1
    XP_047281862.1
    XP_047281863.1
    XP_054222975.1
    XP_054222976.1
    XP_054222977.1
    XP_054222978.1
    XP_054222979.1
    XP_054222980.1
    XP_054222981.1
    XP_054222982.1
    XP_054222983.1
    XP_054222984.1
    XP_054222985.1
    XP_054222986.1
    XP_054222987.1
    XP_054222988.1
    XP_054222989.1
    XP_054222990.1
    XP_054222991.1
    XP_054222992.1
    XP_054222993.1
    XP_054222994.1
    XP_054222995.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5672..53022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258452.2NP_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, AK122753, CN478453
      Consensus CDS
      CCDS73064.1
      UniProtKB/TrEMBL
      F6UZG9, Q66K33
      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_001258453.2NP_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)
      BC110884, CN478453, DB099150
      UniProtKB/TrEMBL
      Q2TAK1, Q66K33
      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_032807.5NP_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, CN478453
      Consensus CDS
      CCDS7073.1
      UniProtKB/TrEMBL
      Q14DG0
      Related
      ENSP00000369335.5, ENST00000379999.6
      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_178150.3NP_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)
      BC113377, CN478453, DB099150
      Consensus CDS
      CCDS7072.1
      UniProtKB/Swiss-Prot
      Q5JVB0, Q5JVB1, Q7Z4Q6, Q7Z4R0, Q8N1P5, Q8N586, Q8NFZ0, Q96E82, Q96K67, Q96SW7, Q9UFB2
      UniProtKB/TrEMBL
      Q14DG0
      Related
      ENSP00000355415.4, ENST00000362091.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      5889572..5937593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425892.1XP_047281848.1  F-box DNA helicase 1 isoform X1

    2. XM_047425900.1XP_047281856.1  F-box DNA helicase 1 isoform X5

    3. XM_047425896.1XP_047281852.1  F-box DNA helicase 1 isoform X7

      UniProtKB/Swiss-Prot
      Q5JVB0, Q5JVB1, Q7Z4Q6, Q7Z4R0, Q8N1P5, Q8N586, Q8NFZ0, Q96E82, Q96K67, Q96SW7, Q9UFB2
    4. XM_047425904.1XP_047281860.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
      Related
      ENSP00000380439.4, ENST00000397269.7
    5. XM_047425901.1XP_047281857.1  F-box DNA helicase 1 isoform X9

      UniProtKB/TrEMBL
      Q2TAK1
    6. XM_047425894.1XP_047281850.1  F-box DNA helicase 1 isoform X5

    7. XM_047425895.1XP_047281851.1  F-box DNA helicase 1 isoform X7

      UniProtKB/Swiss-Prot
      Q5JVB0, Q5JVB1, Q7Z4Q6, Q7Z4R0, Q8N1P5, Q8N586, Q8NFZ0, Q96E82, Q96K67, Q96SW7, Q9UFB2
    8. XM_047425898.1XP_047281854.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    9. XM_047425902.1XP_047281858.1  F-box DNA helicase 1 isoform X9

      UniProtKB/TrEMBL
      Q2TAK1
    10. XM_017016844.3XP_016872333.1  F-box DNA helicase 1 isoform X4

      UniProtKB/TrEMBL
      Q14DG0
      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
    11. XM_024448240.2XP_024304008.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9, Q66K33
    12. XM_024448241.2XP_024304009.1  F-box DNA helicase 1 isoform X9

      UniProtKB/TrEMBL
      Q2TAK1, Q66K33
      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
    13. XM_047425906.1XP_047281862.1  F-box DNA helicase 1 isoform X11

    14. XM_047425907.1XP_047281863.1  F-box DNA helicase 1 isoform X12

    15. XM_047425897.1XP_047281853.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    16. XM_017016842.2XP_016872331.1  F-box DNA helicase 1 isoform X3

      UniProtKB/TrEMBL
      Q14DG0
    17. XM_017016845.2XP_016872334.1  F-box DNA helicase 1 isoform X6

      UniProtKB/TrEMBL
      Q66K33
    18. XM_047425893.1XP_047281849.1  F-box DNA helicase 1 isoform X2

    19. XM_047425903.1XP_047281859.1  F-box DNA helicase 1 isoform X10

    20. XM_047425905.1XP_047281861.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    21. XM_047425899.1XP_047281855.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9

    RNA

    1. XR_007062013.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5890100..5938280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367002.1XP_054222977.1  F-box DNA helicase 1 isoform X3

    2. XM_054367012.1XP_054222987.1  F-box DNA helicase 1 isoform X5

    3. XM_054367007.1XP_054222982.1  F-box DNA helicase 1 isoform X7

      UniProtKB/Swiss-Prot
      Q5JVB0, Q5JVB1, Q7Z4Q6, Q7Z4R0, Q8N1P5, Q8N586, Q8NFZ0, Q96E82, Q96K67, Q96SW7, Q9UFB2
    4. XM_054367017.1XP_054222992.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    5. XM_054367013.1XP_054222988.1  F-box DNA helicase 1 isoform X9

      UniProtKB/TrEMBL
      Q2TAK1
    6. XM_054367004.1XP_054222979.1  F-box DNA helicase 1 isoform X5

    7. XM_054367006.1XP_054222981.1  F-box DNA helicase 1 isoform X7

      UniProtKB/Swiss-Prot
      Q5JVB0, Q5JVB1, Q7Z4Q6, Q7Z4R0, Q8N1P5, Q8N586, Q8NFZ0, Q96E82, Q96K67, Q96SW7, Q9UFB2
    8. XM_054367010.1XP_054222985.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    9. XM_054367015.1XP_054222990.1  F-box DNA helicase 1 isoform X9

      UniProtKB/TrEMBL
      Q2TAK1
    10. XM_054367003.1XP_054222978.1  F-box DNA helicase 1 isoform X4

    11. XM_054367008.1XP_054222983.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    12. XM_054367014.1XP_054222989.1  F-box DNA helicase 1 isoform X9

      UniProtKB/TrEMBL
      Q2TAK1
    13. XM_054367019.1XP_054222994.1  F-box DNA helicase 1 isoform X11

    14. XM_054367020.1XP_054222995.1  F-box DNA helicase 1 isoform X12

    15. XM_054367009.1XP_054222984.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    16. XM_054367005.1XP_054222980.1  F-box DNA helicase 1 isoform X6

    17. XM_054367000.1XP_054222975.1  F-box DNA helicase 1 isoform X1

    18. XM_054367016.1XP_054222991.1  F-box DNA helicase 1 isoform X10

    19. XM_054367001.1XP_054222976.1  F-box DNA helicase 1 isoform X2

    20. XM_054367018.1XP_054222993.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9
    21. XM_054367011.1XP_054222986.1  F-box DNA helicase 1 isoform X8

      UniProtKB/TrEMBL
      F6UZG9

    RNA

    1. XR_008488304.1 RNA Sequence