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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
  • 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]

GeneCards Summary for FBXW7 Gene

FBXW7 (F-Box And WD Repeat Domain Containing 7) is a Protein Coding gene. Diseases associated with FBXW7 include hematologic cancer and pediatric ependymoma. Among its related pathways are Signaling by GPCR and Transport to the Golgi and subsequent modification. 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 TRAF7.

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

Promoters for FBXW7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBXW7 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for FBXW7 Gene at MOPED

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

Antibody Products

  • Cloud-Clone Corp. Antibodies for FBXW7

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.
  • Contains 7 WD repeats.
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.
  • Contains 1 F-box domain.
Similarity:
  • Contains 7 WD repeats.
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 --
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

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
Jensen Localization Image for FBXW7 Gene COMPARTMENTS Subcellular localization image for FBXW7 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
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:0006974 cellular response to DNA damage stimulus IDA 17873522
GO:0007062 sister chromatid cohesion IMP 15917200
GO:0007219 Notch signaling pathway TAS --
GO:0010868 negative regulation of triglyceride biosynthetic process 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:

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 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



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.
genes like me logo Genes that share expression patterns with FBXW7: view

Protein tissue co-expression partners for FBXW7 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues 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 35
  • 99.91 (n)
  • 100 (a)
FBXW7 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXW7 36
  • 89 (a)
OneToOne
FBXW7 35
  • 93.3 (n)
  • 99.45 (a)
dog
(Canis familiaris)
Mammalia FBXW7 35
  • 96.04 (n)
  • 98.16 (a)
FBXW7 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxw7 16
Fbxw7 36
  • 96 (a)
OneToOne
Fbxw7 35
  • 90.33 (n)
  • 95.33 (a)
oppossum
(Monodelphis domestica)
Mammalia FBXW7 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXW7 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxw7 35
  • 90.52 (n)
  • 95.33 (a)
chicken
(Gallus gallus)
Aves FBXW7 36
  • 99 (a)
OneToOne
FBXW7 35
  • 85.57 (n)
  • 94.44 (a)
lizard
(Anolis carolinensis)
Reptilia FBXW7 36
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32837 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw7 35
  • 80.09 (n)
  • 88.68 (a)
Str.6549 35
zebrafish
(Danio rerio)
Actinopterygii FBXW7 36
  • 76 (a)
OneToOne
fbxw7 35
  • 77.18 (n)
  • 94.99 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005359 35
  • 65.27 (n)
  • 79.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta ago 37
  • 74 (a)
ago 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sel-10 36
  • 46 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 36
  • 25 (a)
OneToMany
CDC4 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3633 36
  • 61 (a)
OneToOne
Species with no ortholog for FBXW7:
  • 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
rs6816935 - 152,411,461(+) CTCCT(C/T)CTCCT intron-variant, reference, synonymous-codon, missense
rs6842544 - 152,411,407(+) TTCTC(C/T)GCTAC intron-variant, reference, synonymous-codon, missense
rs7660281 - 152,411,373(+) AGTTC(A/C/G)TGACA intron-variant, reference, missense, stop-gained
VAR_017815 A acute lymphoblastic leukemia cell line
VAR_017816 An ovarian cancer cell line

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

Variant ID Type Subtype PubMed ID
nsv516218 CNV Loss 19592680
nsv4553 CNV Insertion 18451855
nsv881544 CNV Loss 21882294
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

HapMap Linkage Disequilibrium report
FBXW7
Human Gene Mutation Database (HGMD)
FBXW7

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

Disorders for FBXW7 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FBXW7 Gene - From: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hematologic cancer
  • blood cancer
pediatric ependymoma
  • familial ependymoma
colon adenoma
  • adenomatous polyp of colon
benign breast phyllodes tumor
  • benign cystosarcoma phyllodes
malignant ependymoma
  • ependymal neoplasm
- 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. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 4 67
  2. A phosphorylation cascade controls the degradation of active SREBP1. (PMID: 19126544) Bengoechea-Alonso M.T. … Ericsson J. (J. Biol. Chem. 2009) 3 23
  3. Somatic mutations of the CDC4 (FBXW7) gene in hereditary colorectal tumors. (PMID: 19420964) Miyaki M. … Mori T. (Oncology 2009) 3 23
  4. Both SCF(Cdc4alpha) and SCF(Cdc4gamma) are required for cyclin E turnover in cell lines that do not overexpress cyclin E. (PMID: 18414042) Sangfelt O. … Reed S.I. (Cell Cycle 2008) 3 23
  5. FBXW7 mutation in adult T-cell and B-cell acute lymphocytic leukemias. (PMID: 18485478) Song J.H. … Miller C.W. (Leuk. Res. 2008) 3 23

Products for FBXW7 Gene

Sources for FBXW7 Gene

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