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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-... See more...
Aliases for FBXW7 Gene
Aliases for FBXW7 Gene
- F-Box And WD Repeat Domain Containing 7 2 3 5
- SEL-10 2 3 4
- FBX30 2 3 4
- SEL10 2 3 4
- FBW7 2 3 4
- F-Box And WD Repeat Domain Containing 7, E3 Ubiquitin Protein Ligase 2 3
- F-Box And WD-40 Domain Protein 7 (Archipelago Homolog, Drosophila) 2 3
- F-Box/WD Repeat-Containing Protein 7 3 4
- F-Box Protein FBX30 3 4
- FBXW6 2 3
- HCdc4 3 4
- CDC4 2 3
External Ids for FBXW7 Gene
- HGNC: 16712
- Entrez Gene: 55294
- Ensembl: ENSG00000109670
- OMIM: 606278
- UniProtKB: Q969H0
Previous GeneCards Identifiers for FBXW7 Gene
- GC04M154093
- GC04M153631
- GC04M153708
- GC04M153820
- GC04M153821
- GC04M153600
- GC04M153461
- GC04M153242
- GC04M148968
Summaries for FBXW7 Gene
-
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]
GeneCards Summary for FBXW7 Gene
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.
UniProtKB/Swiss-Prot Summary for FBXW7 Gene
-
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018).
Additional gene information for FBXW7 Gene
- HGNC(16712)
- Entrez Gene(55294)
- Ensembl(ENSG00000109670)
- OMIM(606278)
- UniProtKB(Q969H0)
- Open Targets Platform(ENSG00000109670)
- Monarch Initiative
- Search for FBXW7 at DataMed
- Search for FBXW7 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXW7 Gene
Genomics for FBXW7 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FBXW7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FBXW7 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXW7
- Top Transcription factor binding sites by QIAGEN in the FBXW7 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
Genomic Locations for FBXW7 Gene
Genomic Locations for FBXW7 Gene
- chr4:152,320,544-152,536,873
- (GRCh38/hg38)
- Size:
- 216,330 bases
- Orientation:
- Minus strand
- chr4:153,242,410-153,457,253
- (GRCh37/hg19)
- Size:
- 214,844 bases
- Orientation:
- Minus strand
Genomic View for FBXW7 Gene
Genes around FBXW7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q31.3 by HGNC
- 4q31.3 by Entrez Gene
- 4q31.3 by Ensembl
FBXW7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FBXW7 Gene
Proteins for FBXW7 Gene
-
Protein details for FBXW7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q969H0-FBXW7_HUMAN
- Recommended name:
- F-box/WD repeat-containing protein 7
- Protein Accession:
- Q969H0
- B7ZLP9
- Q68DR0
- Q96A16
- Q96LE0
- Q96RI2
- Q9NUX6
Protein attributes for FBXW7 Gene
- Size:
- 707 amino acids
- Molecular mass:
- 79663 Da
- Quaternary structure:
-
- Homodimer; homodimerization plays a role in substrate binding and/or ubiquitination and degradation (PubMed:22608923, PubMed:17434132, PubMed:28007894). Component of the SCF(FBXW7) complex consisting of CUL1, RBX1, SKP1 and FBXW7 (PubMed:11565034, PubMed:15103331, PubMed:22748924, PubMed:28007894, PubMed:26976582, PubMed:28727686). Interacts (via F-box domain) with SKP1 (PubMed:11585921, PubMed:17434132, PubMed:28007894, PubMed:26976582, PubMed:28727686). Interacts (via F-box domain) with pseudophosphatase STYX; the interaction is direct and prevents FBXW7 interaction with SKP1 (PubMed:28007894). Interacts with cyclin-E (CCNE1 or CCNE2) (PubMed:11565034, PubMed:17434132). Interacts with PSEN1 (PubMed:12354302). Forms a trimeric complex with NOTCH1 and SGK1 (PubMed:21147854). Interacts with NOTCH1 intracellular domain/NICD and NOTCH4 intracellular domain/NICD (PubMed:11585921). Interacts with NOTCH2 intracellular domain (N2ICD) (PubMed:29149593). Interacts with MYC (when phosphorylated) (PubMed:17873522, PubMed:25775507, PubMed:28007894). Interacts with USP28, leading to counteract ubiquitination of MYC (PubMed:17873522). Interacts with JUN (PubMed:14739463, PubMed:22608923). Found in a complex with JUN and PRR7 (PubMed:27458189). Interacts with JUN and PRR7; the interaction inhibits ubiquitination-mediated JUN degradation promoting its phosphorylation and transcriptional activity (PubMed:27458189). Interacts (when phosphorylated at Thr-205) with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923). Interacts with UBE2QL1 (PubMed:24000165). Interacts with FAM83D; promotes FBXW7 degradation (PubMed:24344117). Interacts with MYCN; FBXW7 competes with AURKA for binding to unphosphorylated MYCN but not for binding to phosphorylated MYCN (PubMed:27837025). Interacts with STOML1 (PubMed:23082202). Interacts with NFE2L1 (By similarity). Interacts with USP36, leading to counteract ubiquitination of MYC (PubMed:25775507). Interacts with NR1D1 (PubMed:27238018).
- (Microbial infection) Interacts (via WD repeats) with SV40 large T antigen (via CPD region).
- SequenceCaution:
-
- Sequence=BAA91986.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for FBXW7 Gene
Protein Expression for FBXW7 Gene
Post-translational modifications for FBXW7 Gene
- Phosphorylation at Thr-205 promotes interaction with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923).
- Ubiquitinated: autoubiquitinates following phosphorylation at Thr-205 and subsequent interaction with PIN1. Ubiquitination leads to its proteasomal degradation (PubMed:22608923).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for FBXW7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Custom Antibody ServicesOriGene Antibodies for FBXW7
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- TA802934S
- TA802970
- TA802970S
- TA803051
- TA803051S
- Novus Biologicals Antibodies for FBXW7
-
Abcam antibodies for FBXW7
- Invitrogen Antibodies for FBXW7 (AFLGC-FBXW7)
- antibodies-online: Show 32 available FBXW7 Antibodies ranked by validation data
- Compare Top FBXW7 Antibodies
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Recommended
- 16 WB Antibodies (anti-rat)
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- 1 IP Antibody (anti-rat)
- 106 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 35 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 5 IHC Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 1 IP Antibody (anti-mouse)
-
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Protein Products
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No data available for DME Specific Peptides for FBXW7 Gene
Domains & Families for FBXW7 Gene
Gene Families for FBXW7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for FBXW7 Gene
Suggested Antigen Peptide Sequences for FBXW7 Gene
- GenScript: Design optimal peptide antigens:
-
- F-box and WD40 domain protein 7 (A7BJS8_HUMAN)
- hCdc4 (FBXW7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q969H0UniProtKB/Swiss-Prot:
FBXW7_HUMAN :- The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.
- Domain:
-
- The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.
- The F-box domain mediates interaction with SKP1.
Function for FBXW7 Gene
Molecular function for FBXW7 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018).
Phenotypes From GWAS Catalog for FBXW7 Gene
| 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 |
Phenotypes for FBXW7 Gene
- MGI mutant phenotypes for FBXW7:
-
inferred from 11 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FBXW7:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with Ras
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased HPV16-GFP infection
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Increased cell death in HCT116 cells
- Decreased CDKN1A mRNA expression
- Increased Cyt C expression
Animal Models for FBXW7 Gene
Animal Model Products
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CRISPR Products
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-
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miRNA for FBXW7 Gene
- miRTarBase miRNAs that target FBXW7
-
- hsa-miR-197-3p (MIRT003827)
- mmu-miR-223-3p (MIRT004686)
- mmu-miR-25-3p (MIRT004687)
- hsa-miR-107 (MIRT004756)
- hsa-miR-128-3p (MIRT004757)
- hsa-miR-223-3p (MIRT006237)
- hsa-miR-27a-3p (MIRT006357)
- mmu-miR-324-3p (MIRT010965)
- mmu-miR-136-5p (MIRT015074)
- hsa-miR-590-3p (MIRT016198)
- hsa-miR-103a-3p (MIRT027232)
- hsa-miR-101-3p (MIRT027385)
- hsa-miR-16-5p (MIRT032006)
- mmu-miR-27a-3p (MIRT053021)
- hsa-miR-503-5p (MIRT437907)
- hsa-miR-182-5p (MIRT437908)
- hsa-miR-25-3p (MIRT438342)
- mmu-miR-182-5p (MIRT438560)
- hsa-miR-510-3p (MIRT476879)
- hsa-miR-4639-5p (MIRT476880)
- hsa-miR-2052 (MIRT476881)
- hsa-miR-4328 (MIRT476882)
- hsa-miR-4698 (MIRT476883)
- hsa-miR-570-5p (MIRT476884)
- hsa-miR-548ba (MIRT476885)
- hsa-miR-548ai (MIRT476886)
- hsa-miR-548ag (MIRT476887)
- hsa-miR-203a-3p (MIRT476888)
- hsa-miR-1303 (MIRT548240)
- hsa-miR-664b-3p (MIRT548241)
- hsa-miR-190a-3p (MIRT548242)
- hsa-miR-579-3p (MIRT548243)
- hsa-miR-380-3p (MIRT548244)
- hsa-miR-411-3p (MIRT548245)
- hsa-miR-379-3p (MIRT548246)
- hsa-miR-4495 (MIRT548247)
- hsa-miR-656-3p (MIRT548248)
- hsa-miR-5011-5p (MIRT548249)
- hsa-miR-5694 (MIRT548250)
- hsa-miR-32-5p (MIRT731444)
- hsa-miR-92a-3p (MIRT731599)
- hsa-miR-384 (MIRT732430)
- hsa-miR-363-3p (MIRT733161)
- hsa-miR-182-3p (MIRT733613)
- hsa-miR-155-3p (MIRT733887)
- hsa-miR-770-5p (MIRT734692)
- hsa-miR-155-5p (MIRT734975)
- hsa-miR-24-3p (MIRT735427)
- hsa-miR-223-5p (MIRT735433)
- hsa-miR-367-3p (MIRT735508)
- hsa-miR-1302 (MIRT737261)
- hsa-miR-144-3p (MIRT737623)
- hsa-miR-296-3p (MIRT739516)
- hsa-miR-3122 (MIRT739981)
- hsa-miR-3192-5p (MIRT741013)
- hsa-miR-3529-3p (MIRT741492)
- hsa-miR-3913-5p (MIRT742863)
- hsa-miR-4252 (MIRT743330)
- hsa-miR-4298 (MIRT743811)
- hsa-miR-4425 (MIRT744274)
- hsa-miR-4701-5p (MIRT747306)
- hsa-miR-588 (MIRT751553)
- hsa-miR-6823-5p (MIRT756921)
- hsa-miR-92a-1-5p (MIRT760517)
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXW7 Gene
Localization for FBXW7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBXW7 Gene
- [Isoform 1]: Nucleus, nucleoplasm.
- [Isoform 2]: Cytoplasm.
- [Isoform 3]: Nucleus, nucleolus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| endoplasmic reticulum | 3 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
- Nucleoplasm (3)
- Vesicles (3)
| 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 |
Pathways & Interactions for FBXW7 Gene
| 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
|
|
Pathways by source for FBXW7 Gene
1 Sino Biological pathway for FBXW7 Gene
4 BioSystems pathways for FBXW7 Gene
21 Reactome pathways for FBXW7 Gene
1 KEGG pathway for FBXW7 Gene
7 GeneGo (Thomson Reuters) pathways for FBXW7 Gene
- Cell cycle ESR1 regulation of G1/S transition
- Cell cycle Regulation of G1/S transition (part 1)
- Cell cycle Role of SCF complex in cell cycle regulation
- Development Notch Signaling Pathway
- Immune response MIF-JAB1 signaling
1 R&D Systems pathway for FBXW7 Gene
2 Qiagen pathways for FBXW7 Gene
- Notch Signaling
- SREBP Proteolysis
Interacting Proteins for FBXW7 Gene
Selected Interacting proteins:
Q969H0-FBXW7_HUMAN
ENSP00000281708
for FBXW7 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FBXW7
SIGNOR curated interactions for FBXW7 Gene
| 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 | -- |
Transcripts for FBXW7 Gene
mRNA/cDNA for FBXW7 Gene
- 5 REFSEQ mRNAs :
- 36 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000281708 5639 nts (view in UCSC)
- ENST00000296555 4301 nts (view in UCSC)
- ENST00000393956 4317 nts (view in UCSC)
- ENST00000603548 5653 nts (view in UCSC)
- ENST00000603821 4279 nts (view in UCSC)
CRISPR Products
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBXW7
- Addgene plasmids for FBXW7
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| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||
| SP5: |
Relevant External Links for FBXW7 Gene
- GeneLoc Exon Structure for
- FBXW7
Expression for FBXW7 Gene
mRNA differential expression in normal tissues according to GTEx for FBXW7 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FBXW7 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXW7
SOURCE GeneReport for Unigene cluster for FBXW7 Gene:
Hs.561245mRNA Expression by UniProt/SwissProt for FBXW7 Gene:
Q969H0-FBXW7_HUMAN
Tissue specificity:
Isoform 1 is widely expressed. Isoform 3 is expressed in brain.
Evidence on tissue expression from TISSUES for FBXW7 Gene
- Nervous system(5)
- Eye(3.3)
- Skin(3.3)
- Heart(3.2)
- Intestine(3.1)
- Muscle(3.1)
- Bone marrow(2.9)
- Kidney(2.8)
- Blood(2.7)
- Lymph node(2.7)
- Lung(2.7)
- Liver(2.6)
- Stomach(2.6)
- Pancreas(2.5)
- Spleen(2.4)
- Thyroid gland(2.3)
- Bone(2)
Primer Products
-
OriGene qPCR primer pairs for FBXW7
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXW7 Gene
Orthologs for FBXW7 Gene
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 |
- Species where no ortholog for FBXW7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FBXW7 Gene
- ENSEMBL:
- Gene Tree for FBXW7 (if available)
- TreeFam:
- Gene Tree for FBXW7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FBXW7: view image
Paralogs for FBXW7 Gene
Paralogs for FBXW7 Gene
(19) SIMAP similar genes for FBXW7 Gene using alignment to 8 proteins:
- FBXW7_HUMAN
- A7BJS8_HUMAN
- B7Z2C8_HUMAN
- G0Z2K0_HUMAN
- H9CWI2_HUMAN
- H9CWI3_HUMAN
- S4R3N3_HUMAN
- S4R3U4_HUMAN
Variants for FBXW7 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXW7 Gene
| 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 |
Residual Variation Intolerance Score:
36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.36;
41.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FBXW7 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXW7 Gene
Disorders for FBXW7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| uterine carcinosarcoma |
|
|
| carcinosarcoma |
|
|
| serous cystadenocarcinoma |
|
|
| anal squamous cell carcinoma |
|
|
| large intestine adenocarcinoma |
|
|
Search FBXW7 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FBXW7
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for FBXW7 Gene
Publications for FBXW7 Gene
- The SV40 large T antigen contains a decoy phosphodegron that mediates its interactions with Fbw7/hCdc4. (PMID: 15611062) Welcker M … Clurman BE (The Journal of biological chemistry 2005) 3 4 23
- SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production. (PMID: 12354302) Li J … Gurney ME (Journal of neurochemistry 2002) 3 4 23
- A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 4
- FBXW7 regulates DISC1 stability via the ubiquitin-proteosome system. (PMID: 28727686) Yalla K … Baillie GS (Molecular psychiatry 2018) 3 4
- The pseudophosphatase STYX targets the F-box of FBXW7 and inhibits SCFFBXW7 function. (PMID: 28007894) Reiterer V … Farhan H (The EMBO journal 2017) 3 4
ExternalLinks
Products for FBXW7 Gene
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Invitrogen Antibodies for FBXW7 (AFLGC-FBXW7)
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Sources for FBXW7 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB