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

Gene ID: 84893, updated on 1-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 tRNA-Val (anticodon 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3'-5' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding 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 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
 
DNA repair 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 IDA
Inferred from Direct Assay
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
 
recombinational repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to intra-S DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
chromatin IDA
Inferred from Direct Assay
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, 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
    Q8NFZ0
    Related
    ENSP00000355415.4, ENST00000362091.8
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 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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