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Aliases for FBXW7 Gene

Aliases for FBXW7 Gene

  • F-Box And WD Repeat Domain Containing 7 2 3 5
  • 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 Protein FBX30 3 4
  • SEL-10 3 4
  • Fbx30 3 4
  • SEL10 3 4
  • HCdc4 3 4
  • FBW7 3 4
  • HAgo 3 4
  • F-Box And WD-40 Domain-Containing Protein 7 4
  • F-Box/WD Repeat-Containing Protein 7 3
  • Archipelago Homolog (Drosophila) 2
  • Homolog Of C Elegans Sel-10 3
  • F-Box Protein SEL-10 3
  • Archipelago Homolog 4
  • F-Box Protein FBW7 3
  • Archipelago 3
  • FBXO30 3
  • FBXW6 3
  • CDC4 3
  • FBW6 3
  • AGO 3

External Ids for FBXW7 Gene

Previous GeneCards Identifiers for FBXW7 Gene

  • GC04M154093
  • GC04M153631
  • GC04M153708
  • GC04M153820
  • GC04M153821
  • GC04M153600
  • GC04M153461
  • GC04M153242
  • GC04M148968

Summaries for FBXW7 Gene

Entrez Gene Summary 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]

CIViC summary for FBXW7 Gene

GeneCards Summary for FBXW7 Gene

FBXW7 (F-Box And WD Repeat Domain Containing 7) is a Protein Coding gene. Diseases associated with FBXW7 include Lymphoblastic Leukemia and Pediatric Ependymoma. Among its related pathways are Notch signaling pathway (KEGG) and Signaling by NOTCH1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ubiquitin protein ligase binding. An important paralog of this gene is BTRC.

UniProtKB/Swiss-Prot for FBXW7 Gene

  • Substrate recognition component of an 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:17434132). Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463).

Gene Wiki entry for FBXW7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXW7 Gene

Genomics for FBXW7 Gene

Regulatory Elements for FBXW7 Gene

Enhancers for FBXW7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G152678 0.7 FANTOM5 dbSUPER 28.9 -142.3 -142317 0.4 CEBPG TMEM154 FBXW7 ARFIP1 LOC105377495 GC04P152678
GH04G152572 1.3 Ensembl ENCODE 11.3 -36.8 -36768 0.5 PKNOX1 ARNT TCF12 ZNF766 GATA2 ELK1 FOS NCOA1 TBX21 CBX8 FBXW7 ENSG00000248571 GC04P152567 GC04M152614
GH04G152484 1.2 Ensembl ENCODE 11.5 +49.8 49797 2.7 HNRNPUL1 PKNOX1 FOXA2 ATF1 ARID4B YY1 FOS ZHX2 JUNB PPARG FBXW7 MIR3140 GC04P152461
GH04G152460 1.1 Ensembl ENCODE 11.7 +73.7 73733 3.9 HDAC1 ELF3 ARNT FEZF1 RAD21 YY1 ZNF766 GATA2 ZNF143 IKZF2 FBXW7 GC04P152461 MIR3140
GH04G152584 1.1 FANTOM5 ENCODE 11.4 -49.6 -49584 1.9 FOXA2 ZNF133 RARA CEBPB NFIL3 CEBPA RCOR2 HMBOX1 SOX13 SAP130 FBXW7 ENSG00000248571 GC04P152567 GC04M152614
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXW7 on UCSC Golden Path with GeneCards custom track

Promoters for FBXW7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000174892 401 3401 HDGF MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Transcription factor binding sites by QIAGEN in the FBXW7 gene promoter:

Genomic Location for FBXW7 Gene

Chromosome:
4
Start:
152,321,258 bp from pter
End:
152,536,101 bp from pter
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:
FBXW7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXW7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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). Component of the SCF(FBXW7) complex consisting of CUL1, RBX1, SKP1 and FBXW7. Interacts with PSEN1, cyclin-E (CCNE1 or CCNE2), NOTCH1 intracellular domain/NICD, NOTCH4 intracellular domain/NICD and SKP1. Interacts with MYC (when phosphorylated). Isoform 1 interacts with USP28, leading to counteract ubiquitination of MYC. Isoform 3 interacts (via WD repeats) with SV40 large T antigen (via CPD region). Forms a trimeric complex with NOTCH1 and SGK1. Interacts with JUN (PubMed:14739463, PubMed:22608923). 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).
    SequenceCaution:
    • Sequence=BAA91986.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXW7 Gene

    Alternative splice isoforms for FBXW7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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 degradation (PubMed:22608923).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FBXW7 Gene

Domains & Families for FBXW7 Gene

Suggested Antigen Peptide Sequences for FBXW7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969H0

UniProtKB/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.
genes like me logo Genes that share domains with FBXW7: view

Function for FBXW7 Gene

Molecular function for FBXW7 Gene

UniProtKB/Swiss-Prot Function:
Substrate recognition component of an 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:17434132). Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463).

Gene Ontology (GO) - Molecular Function for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
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
genes like me logo Genes that share ontologies with FBXW7: view
genes like me logo Genes that share phenotypes with FBXW7: view

Animal Models for FBXW7 Gene

MGI Knock Outs for FBXW7:

Animal Model Products

CRISPR Products

Inhibitory RNA 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXW7 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 23858059
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FBXW7: view

Pathways & Interactions for FBXW7 Gene

genes like me logo Genes that share pathways with FBXW7: view

SIGNOR curated interactions for FBXW7 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0001944 vasculature development TAS 21123947
GO:0007062 sister chromatid cohesion IMP 15917200
GO:0010868 negative regulation of triglyceride biosynthetic process ISS --
GO:0010883 regulation of lipid storage ISS --
genes like me logo Genes that share ontologies with FBXW7: view

Drugs & Compounds for FBXW7 Gene

(1) Additional Compounds for FBXW7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBXW7: view

Transcripts for FBXW7 Gene

Unigene Clusters for FBXW7 Gene

F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXW7 Gene

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
ECgene alternative splicing isoforms for
FBXW7

Expression for FBXW7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for FBXW7 Gene



Protein tissue co-expression partners for FBXW7 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXW7 Gene:

FBXW7

SOURCE GeneReport for Unigene cluster for FBXW7 Gene:

Hs.561245

mRNA 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(4.9)
  • Eye(2.8)
  • Intestine(2.4)
  • Lung(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with FBXW7: view

Primer 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.

Orthologs for FBXW7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXW7 34 35
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia FBXW7 34 35
  • 96.04 (n)
cow
(Bos Taurus)
Mammalia FBXW7 34 35
  • 93.3 (n)
rat
(Rattus norvegicus)
Mammalia Fbxw7 34
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Fbxw7 34 16 35
  • 90.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXW7 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXW7 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXW7 34 35
  • 85.57 (n)
lizard
(Anolis carolinensis)
Reptilia FBXW7 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw7 34
  • 80.09 (n)
Str.6549 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32837 34
zebrafish
(Danio rerio)
Actinopterygii fbxw7 34
  • 77.18 (n)
FBXW7 35
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ago 36 35
  • 74 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005359 34
  • 65.27 (n)
worm
(Caenorhabditis elegans)
Secernentea sel-10 35
  • 46 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 35
  • 25 (a)
OneToMany
CDC4 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3633 35
  • 61 (a)
OneToOne
Species where no ortholog for FBXW7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FBXW7 Gene

genes like me logo Genes that share paralogs with FBXW7: view

Variants for FBXW7 Gene

Sequence variations from dbSNP and Humsavar for FBXW7 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs867384286 A acute lymphoblastic leukemia cell line 152,328,233(+) ACAAC(A/G)CACAG reference, missense
VAR_017816 An ovarian cancer cell line
VAR_033030 A breast cancer sample
VAR_035880 A colorectal cancer sample
VAR_035881 A colorectal cancer sample

Structural Variations from Database of Genomic Variants (DGV) for FBXW7 Gene

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

Variation tolerance for FBXW7 Gene

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)

Relevant External Links for FBXW7 Gene

Human Gene Mutation Database (HGMD)
FBXW7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXW7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXW7 Gene

Disorders for FBXW7 Gene

MalaCards: The human disease database

(7) MalaCards diseases for FBXW7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lymphoblastic leukemia
  • acute lymphocytic leukemia
pediatric ependymoma
  • childhood ependymoma
colon adenoma
  • adenomatous polyp of colon
uterine corpus cancer
  • corpus uteri cancer
benign breast phyllodes tumor
  • benign cystosarcoma phyllodes
- elite association - COSMIC cancer census association via MalaCards
Search FBXW7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FBXW7

Genetic Association Database (GAD)
FBXW7
Human Genome Epidemiology (HuGE) Navigator
FBXW7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXW7
genes like me logo Genes that share disorders with FBXW7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXW7 Gene

Publications for FBXW7 Gene

  1. The SV40 large T antigen contains a decoy phosphodegron that mediates its interactions with Fbw7/hCdc4. (PMID: 15611062) Welcker M. … Clurman B.E. (J. Biol. Chem. 2005) 3 4 22 64
  2. SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production. (PMID: 12354302) Li J. … Gurney M.E. (J. Neurochem. 2002) 3 4 22 64
  3. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 4 64
  4. UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene. (PMID: 24000165) Wake N.C. … Woodward E.R. (Hum. Mutat. 2013) 3 4 64
  5. FAM83D promotes cell proliferation and motility by downregulating tumor suppressor gene FBXW7. (PMID: 24344117) Wang Z. … Mao J.H. (Oncotarget 2013) 3 4 64

Products for FBXW7 Gene

  • Addgene plasmids for FBXW7

Sources for FBXW7 Gene

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