2. Gene
  3. FBH1 - F-box DNA helicase 1 Gene

FBH1 - F-box DNA helicase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as Fbx18; hFBH1; FBXO18

Gene ID: 84893 | Gene type: protein coding

About FBH1

Cytogenetic location: 10p15.1 Genomic coordinates (GRCh38): 10:5,889,572-5,937,593 (from NCBI)

This gene has 16 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in testis (RPKM 14.4), spleen (RPKM 12.3) and 25 other tissues.

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]

FBH1 Products(4)

mRNA Protein Name
NM_001258452.2 NP_001245381.1 F-box DNA helicase 1 isoform 3
NM_001258453.2 NP_001245382.1 F-box DNA helicase 1 isoform 4
NM_032807.5 NP_116196.3 F-box DNA helicase 1 isoform 1
NM_178150.3 NP_835363.1 F-box DNA helicase 1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 3'-5' DNA helicase activity IDA
IDA: Inferred from direct assay
11956208 GOA
enables DNA helicase activity IDA
IDA: Inferred from direct assay
19736316 GOA
enables DNA helicase activity IMP
IMP: Inferred from mutant phenotype
23361013 GOA
enables DNA translocase activity IDA
IDA: Inferred from direct assay
24108124 GOA
enables double-stranded DNA binding IDA
IDA: Inferred from direct assay
23393192 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23393192 GOA
enables single-stranded DNA binding IDA
IDA: Inferred from direct assay
19736316 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within DNA catabolic process IMP
IMP: Inferred from mutant phenotype
23361013 GOA
involved in DNA damage response IDA
IDA: Inferred from direct assay
19736316 GOA
involved in DNA repair IDA
IDA: Inferred from direct assay
23319600 GOA
involved in negative regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
19736316 GOA
acts upstream of or within positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
IMP: Inferred from mutant phenotype
23361013 GOA
acts upstream of or within positive regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
23361013 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
25585578 GOA
involved in replication fork processing IDA
IDA: Inferred from direct assay
25585578 GOA
acts upstream of or within response to intra-S DNA damage checkpoint signaling IMP
IMP: Inferred from mutant phenotype
23361013 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SCF ubiquitin ligase complex IDA
IDA: Inferred from direct assay
11956208 GOA
located in chromatin IDA
IDA: Inferred from direct assay
23319600 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19736316 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FBH1 Protein Structure

F-box-like

F-box-like: F-box-like (212 - 260)

UvrD-helicase

UvrD-helicase: UvrD/REP helicase N-terminal domain (640 - 688)

UvrD_C

UvrD_C: UvrD-like helicase C-terminal domain (870 - 933)

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  • 1043 a.a.
Protein Preferred Names Protein Names

F-box DNA helicase 1

F-box only protein, helicase, 18

FBH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra FBH1 Q8NFZ0 APBB1 Homo sapiens O00213-2
Y2H Pooling
32814053
Intra FBH1 Q8NFZ0 APBB1 Homo sapiens O00213-2
Validated Y2H
32814053
Intra FBH1 Q8NFZ0 APBB1 Homo sapiens O00213-2
Y2H Array
32814053
Intra FBH1 Q8NFZ0 SRC Homo sapiens P12931
Anti Tag CoIP
23954233
Intra FBH1 Q8NFZ0 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra FBH1 Q8NFZ0 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra FBH1 Q8NFZ0 WFS1 Homo sapiens O76024
Y2H Array
32814053
Intra FBH1 Q8NFZ0 GRN Homo sapiens P28799
Validated Y2H
32814053
Intra FBH1 Q8NFZ0 GRN Homo sapiens P28799
Y2H Array
32814053
Intra FBH1 Q8NFZ0 GRN Homo sapiens P28799
Y2H Pooling
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group J

Fanconi Anemia Complementation Group J

FANCJ
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04768 FBH1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta FBH1 VGNC VGNC:106047
Felis catus FBH1 VGNC VGNC:62164
Rattus norvegicus FBH1 RGD RGD:1306298
Bos taurus FBH1 VGNC VGNC:28896
Mus musculus FBH1 MGD MGI:1354699
Canis familiaris FBH1 VGNC VGNC:40765