FBH1 - F-box DNA helicase 1 Gene
Also Known as Fbx18; hFBH1; FBXO18
Species: Homo sapiens
About FBH1
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 |
| Molecular Function GO Annotation | Evidence | Références | 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 |
| Cellular Component GO Annotation | Evidence | Références | 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 |
FBH1 Protein Structure
F-box-like: F-box-like (212 - 260)
UvrD-helicase: UvrD/REP helicase N-terminal domain (640 - 688)
UvrD_C: UvrD-like helicase C-terminal domain (870 - 933)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1043 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
F-box DNA helicase 1 |
|
FBH1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
FBH1 | Q8NFZ0 | APBB1 | Homo sapiens | O00213-2 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | APBB1 | Homo sapiens | O00213-2 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | APBB1 | Homo sapiens | O00213-2 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | SRC | Homo sapiens | P12931 | 23954233 | |
|
Intra
|
FBH1 | Q8NFZ0 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | GRN | Homo sapiens | P28799 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | GRN | Homo sapiens | P28799 | 32814053 | |
|
Intra
|
FBH1 | Q8NFZ0 | GRN | Homo sapiens | P28799 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Fanconi Anemia, Complementation Group J |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
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 |
| Others | FBH1 | NCBI |