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: Fb... See more...

Aliases for FBXW8 Gene

Aliases for FBXW8 Gene

  • F-Box And WD Repeat Domain Containing 8 2 3 5
  • F-Box Only Protein 29 2 3 4
  • FBX29 2 3 4
  • FBW6 2 3 4
  • FBW8 2 3 4
  • F-Box And WD-40 Domain-Containing Protein 8 3 4
  • F-Box/WD Repeat-Containing Protein 8 3 4
  • F-Box And WD-40 Domain Protein 8 2 3
  • FBXO29 3 4
  • FBXW6 3 4
  • FBXW8 5

External Ids for FBXW8 Gene

Previous HGNC Symbols for FBXW8 Gene

  • FBXO29

Previous GeneCards Identifiers for FBXW8 Gene

  • GC12P117131
  • GC12P115760
  • GC12P115811
  • GC12P117348
  • GC12P114357

Summaries for FBXW8 Gene

Entrez Gene Summary for FBXW8 Gene

  • 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBXW8 Gene

FBXW8 (F-Box And WD Repeat Domain Containing 8) is a Protein Coding gene. Diseases associated with FBXW8 include Three M Syndrome 1. Among its related pathways are Ubiquitin mediated proteolysis and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is FBXW12.

UniProtKB/Swiss-Prot Summary for FBXW8 Gene

  • Substrate-recognition component of a Cul7-RING ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The Cul7-RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Associated component of the 3M complex, suggesting that it mediates some of 3M complex functions (PubMed:24793695).

Gene Wiki entry for FBXW8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXW8 Gene

Genomics for FBXW8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXW8 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 FBXW8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXW8

Top Transcription factor binding sites by QIAGEN in the FBXW8 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • E47
  • Hand1
  • NF-kappaB
  • NF-kappaB1
  • Nkx6-1
  • p53

Genomic Locations for FBXW8 Gene

Latest Assembly
chr12:116,910,949-117,032,498
(GRCh38/hg38)
Size:
121,550 bases
Orientation:
Plus strand

Previous Assembly
chr12:117,348,755-117,468,953
(GRCh37/hg19 by Entrez Gene)
Size:
120,199 bases
Orientation:
Plus strand

chr12:117,348,761-117,468,953
(GRCh37/hg19 by Ensembl)
Size:
120,193 bases
Orientation:
Plus strand

Genomic View for FBXW8 Gene

Genes around FBXW8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXW8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXW8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXW8 Gene

Proteins for FBXW8 Gene

  • Protein details for FBXW8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3Y1-FBXW8_HUMAN
    Recommended name:
    F-box/WD repeat-containing protein 8
    Protein Accession:
    Q8N3Y1
    Secondary Accessions:
    • Q9UK95

    Protein attributes for FBXW8 Gene

    Size:
    598 amino acids
    Molecular mass:
    67394 Da
    Quaternary structure:
    • Part of a Cul7-RING ubiquitin-protein ligase complex, consisting of CUL7, RBX1, SKP1 and FBXW8. Interacts with GLMN isoform 1. Interacts with CUL7. Interacts with OBSL1, CUL1, CUL2, SKP1, CCT6B, PFDN5, CCT2, CCT3, CCT6A, CCT7, VBP1, CCDC8, ARF1, TRIP13, PDCD5 and GORASP1. Interacts with IRS1 (when phosphorylated). Interacts with MAP4K1/HPK1 (when autophosphorylated). Associated component of the 3M complex. Interacts with POUF51 (when phosphorylated on 'Ser-355') (By similarity).
    SequenceCaution:
    • Sequence=AAF03129.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF03129.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for FBXW8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXW8 Gene

Post-translational modifications for FBXW8 Gene

  • Ubiquitination at Lys427
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBXW8 Gene

Domains & Families for FBXW8 Gene

Gene Families for FBXW8 Gene

Suggested Antigen Peptide Sequences for FBXW8 Gene

GenScript: Design optimal peptide antigens:
  • F-box only protein 29 (FBXW8_HUMAN)
genes like me logo Genes that share domains with FBXW8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBXW8 Gene

Function for FBXW8 Gene

Molecular function for FBXW8 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of a Cul7-RING ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The Cul7-RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Associated component of the 3M complex, suggesting that it mediates some of 3M complex functions (PubMed:24793695).

Phenotypes From GWAS Catalog for FBXW8 Gene

Gene Ontology (GO) - Molecular Function for FBXW8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 24362026
GO:0005515 protein binding IEA,IPI 15070733
genes like me logo Genes that share ontologies with FBXW8: view
genes like me logo Genes that share phenotypes with FBXW8: view

Animal Models for FBXW8 Gene

MGI Knock Outs for FBXW8:
  • Fbxw8 Fbxw8<tm1b(EUCOMM)Hmgu>
  • Fbxw8 Fbxw8<tm1Kei>

miRNA for FBXW8 Gene

miRTarBase miRNAs that target FBXW8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXW8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXW8 Gene

Localization for FBXW8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXW8 Gene

Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with CUL7 at the Golgi apparatus in neurons. {ECO:0000250 UniProtKB:P0DL28}.

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 FBXW8 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBXW8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IDA 21572988
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IEA --
GO:0031467 Cul7-RING ubiquitin ligase complex IDA 18498745
genes like me logo Genes that share ontologies with FBXW8: view

Pathways & Interactions for FBXW8 Gene

genes like me logo Genes that share pathways with FBXW8: view

UniProtKB/Swiss-Prot Q8N3Y1-FBXW8_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXW8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0007030 Golgi organization ISS --
GO:0008283 cell proliferation IDA 24362026
GO:0016567 protein ubiquitination IEA,IDA 18498745
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXW8: view

No data available for SIGNOR curated interactions for FBXW8 Gene

Drugs & Compounds for FBXW8 Gene

No Compound Related Data Available

Transcripts for FBXW8 Gene

mRNA/cDNA for FBXW8 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXW8

Alternative Splicing Database (ASD) splice patterns (SP) for FBXW8 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5:

Relevant External Links for FBXW8 Gene

GeneLoc Exon Structure for
FBXW8

Expression for FBXW8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXW8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBXW8 Gene

This gene is overexpressed in Adipocyte (15.0), Lung (14.6), Placenta (11.0), and Fetal ovary (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBXW8 Gene



Protein tissue co-expression partners for FBXW8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXW8

SOURCE GeneReport for Unigene cluster for FBXW8 Gene:

Hs.624537

Evidence on tissue expression from TISSUES for FBXW8 Gene

  • Nervous system(4.4)
  • Muscle(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with FBXW8: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXW8 Gene

Orthologs for FBXW8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXW8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBXW8 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RNFT2 30
  • 87.5 (n)
FBXW8 31
  • 79 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXW8 30 31
  • 87.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbxw8 30
  • 81.15 (n)
Mouse
(Mus musculus)
Mammalia Fbxw8 30 17 31
  • 81.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FBXW8 31
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FBXW8 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBXW8 30 31
  • 67.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBXW8 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fbxw8 30
  • 58.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17133 30
Zebrafish
(Danio rerio)
Actinopterygii fbxw8 30 31
  • 56.47 (n)
OneToOne
Species where no ortholog for FBXW8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for FBXW8 Gene

ENSEMBL:
Gene Tree for FBXW8 (if available)
TreeFam:
Gene Tree for FBXW8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXW8: view image

Paralogs for FBXW8 Gene

genes like me logo Genes that share paralogs with FBXW8: view

Variants for FBXW8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXW8 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs147289806 Benign: not provided 116,985,400(+) C/T
NM_153348.3(FBXW8):c.1030C>T (p.Leu344=)
SYNONYMOUS
rs147449897 Benign: not provided 117,027,419(+) A/G
NM_153348.3(FBXW8):c.1567A>G (p.Ser523Gly)
MISSENSE
rs147656905 Likely Benign: not provided 116,928,037(+) T/C
NM_153348.3(FBXW8):c.333T>C (p.Asp111=)
SYNONYMOUS
rs36021180 Benign: not provided. - 116,949,660(+) A/Gp.Thr211Ala
NM_153348.3(FBXW8):c.631A>G (p.Thr211Ala)
MISSENSE
rs3741466 Benign: not provided. - 117,027,459(+) C/Tp.Thr536Met
NM_153348.3(FBXW8):c.1607C>T (p.Thr536Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXW8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FBXW8 Gene

Variant ID Type Subtype PubMed ID
dgv1562n100 CNV gain 25217958
esv2746432 CNV deletion 23290073
esv3549840 CNV deletion 23714750
esv3630861 CNV loss 21293372
nsv519118 CNV loss 19592680
nsv832524 CNV gain 17160897
nsv900 CNV insertion 18451855

Variation tolerance for FBXW8 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.87; 58.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXW8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXW8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXW8 Gene

Disorders for FBXW8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXW8 Gene - From: COP

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards
Search FBXW8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBXW8

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FBXW8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXW8 Gene

Publications for FBXW8 Gene

  1. A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 4
  2. The 3M complex maintains microtubule and genome integrity. (PMID: 24793695) Yan J … Xiong Y (Molecular cell 2014) 3 4
  3. The CUL7/F-box and WD repeat domain containing 8 (CUL7/Fbxw8) ubiquitin ligase promotes degradation of hematopoietic progenitor kinase 1. (PMID: 24362026) Wang H … Wang H (The Journal of biological chemistry 2014) 3 4
  4. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. (PMID: 21572988) Litterman N … Bonni A (PLoS biology 2011) 3 4
  5. The CUL7 E3 ubiquitin ligase targets insulin receptor substrate 1 for ubiquitin-dependent degradation. (PMID: 18498745) Xu X … Pan ZQ (Molecular cell 2008) 3 4

Products for FBXW8 Gene

Sources for FBXW8 Gene