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This gene encodes a member of the F-box protein family which is 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 3 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 was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
FBXW7 (F-Box And WD Repeat Domain Containing 7) is a Protein Coding gene. Diseases associated with FBXW7 include Uterine Carcinosarcoma and Carcinosarcoma. Among its related pathways are Chaperonin-mediated protein folding and FBXW7 Mutants and NOTCH1 in Cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and ubiquitin protein ligase binding. An important paralog of this gene is BTRC.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15070733 |
GO:0030332 | cyclin binding | IPI | 17434132 |
GO:0030674 | protein binding, bridging | IDA | 12628165 |
GO:0031625 | ubiquitin protein ligase binding | IPI | 12628165 |
GO:0042802 | identical protein binding | IPI | 21620836 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IEA | -- |
GO:0005737 | cytoplasm | IDA | 23858059 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Cell cycle Role of SCF complex in cell cycle regulation |
Cell cycle Regulation of G1/S transition (part 1)
.40
Cell cycle Role of SCF complex in cell cycle regulation
.40
|
Cell cycle ESR1 regulation of G1/S transition
.34
Immune response MIF-JAB1 signaling
.33
|
3 | Notch Signaling Pathway (WikiPathways) | ||
4 | Class I MHC mediated antigen processing and presentation | ||
5 | Chaperonin-mediated protein folding |
.94
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0001570 | vasculogenesis | IEA | -- |
GO:0001944 | vasculature development | TAS | 21123947 |
GO:0007062 | sister chromatid cohesion | IMP | 15917200 |
GO:0007219 | Notch signaling pathway | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBXW7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXW7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBXW7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbxw7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fbxw7 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FBXW7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FBXW7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FBXW7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBXW7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxw7 30 |
|
||
Str.6549 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32837 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fbxw7 30 |
|
||
FBXW7 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005359 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | ago 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | sel-10 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MET30 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3633 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691348 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 152,326,206(-) | T/C | MISSENSE_VARIANT | |
rs1057519895 | Likely Pathogenic: Medulloblastoma; Chronic lymphocytic leukemia; Carcinoma of esophagus; Lung adenocarcinoma; Squamous cell lung carcinoma; Neoplasm of the breast; Neoplasm of the large intestine; Adenoid cystic carcinoma; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. Likely Pathogenic: Medulloblastoma; Chronic lymphocytic leukemia; Carcinoma of esophagus; Lung adenocarcinoma; Squamous cell lung carcinoma; Neoplasm of the breast; Neoplasm of the large intestine; Adenoid cystic carcinoma; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. Likely Pathogenic: Medulloblastoma; Chronic lymphocytic leukemia; Carcinoma of esophagus; Lung adenocarcinoma; Squamous cell lung carcinoma; Neoplasm of the breast; Neoplasm of the large intestine; Adenoid cystic carcinoma; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. A colorectal cancer sample | 152,328,232(-) | C/AC/GC/Tp.Arg465His | MISSENSE_VARIANT | |
rs1057519896 | Likely Pathogenic: Chronic lymphocytic leukemia; Transitional cell carcinoma of the bladder; Carcinoma of esophagus; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Malignant melanoma of skin; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma. Uncertain Significance: Chronic lymphocytic leukemia; Transitional cell carcinoma of the bladder; Carcinoma of esophagus; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Malignant melanoma of skin; Uterine cervical neoplasms; Malignant neoplasm of body of uterus; Uterine Carcinosarcoma; not provided. An ovarian cancer cell line | 152,326,136(-) | C/AC/Tp.Arg505Leu | MISSENSE_VARIANT | |
rs115679616 | Not Provided: not specified | 152,411,746(-) | T/C | MISSENSE_VARIANT | |
rs147025249 | Not Provided: not specified | 152,411,325(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5439n100 | CNV | loss | 25217958 |
dgv5440n100 | CNV | loss | 25217958 |
dgv5441n100 | CNV | loss | 25217958 |
dgv5442n100 | CNV | loss | 25217958 |
nsv1031970 | CNV | gain | 25217958 |
nsv1131833 | CNV | deletion | 24896259 |
nsv4553 | CNV | insertion | 18451855 |
nsv516218 | CNV | loss | 19592680 |
nsv523798 | CNV | loss | 19592680 |
nsv830116 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
uterine carcinosarcoma |
|
|
carcinosarcoma |
|
|
serous cystadenocarcinoma |
|
|
anal squamous cell carcinoma |
|
|
large intestine adenocarcinoma |
|
|