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Aliases for FBXO9 Gene

Aliases for FBXO9 Gene

  • F-Box Protein 9 2 3 5
  • Renal Carcinoma Antigen NY-REN-57 3 4
  • Cross-Immune Reaction Antigen 1 3 4
  • F-Box Only Protein 9 2 3
  • VCIA1 3 4
  • FBX9 3 4
  • F-Box Protein Fbx9 3
  • DJ341E18.2 3
  • NY-REN-57 3

External Ids for FBXO9 Gene

Previous GeneCards Identifiers for FBXO9 Gene

  • GC06P052931
  • GC06P052976
  • GC06P052916
  • GC06P052761

Summaries for FBXO9 Gene

Entrez Gene Summary for FBXO9 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 the 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 belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBXO9 Gene

FBXO9 (F-Box Protein 9) is a Protein Coding gene. Diseases associated with FBXO9 include Multiple Myeloma and Epilepsy, Generalized, With Febrile Seizures Plus, Type 5. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for FBXO9 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 TTI1 and TELO2 in a CK2-dependent manner, thereby directly regulating mTOR signaling. SCF(FBXO9) recognizes and binds mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, the SCF(FBXO9) does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTORC1 is inactivated to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1.

Gene Wiki entry for FBXO9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO9 Gene

Genomics for FBXO9 Gene

Regulatory Elements for FBXO9 Gene

Enhancers for FBXO9 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
GH06G053009 1.1 ENCODE dbSUPER 11.2 -38.8 -38807 7.1 HDAC1 PKNOX1 FOXA2 NFIB SIN3A ZBTB40 RAD21 GATA2 FOS RCOR1 ICK FBXO9 GC06P053016 ENSG00000202198 RN7SK
GH06G053306 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.2 +258.5 258451 8.1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELOVL5 RPL31P28 TRAM2 FBXO9 PIR59384 RPS16P5
GH06G053332 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +284.0 284007 6.4 HDGF FOXA2 WRNIP1 BMI1 ZBTB40 ZNF366 SCRT2 ZNF207 RELB ETV6 ELOVL5 FBXO9 RPS16P5 PIR59384
GH06G053022 0.5 dbSUPER 11.9 -27.1 -27079 5.0 ZMYM3 ZNF24 ATF2 ICK FBXO9 GSTA3 GC06P053016 GC06P053034
GH06G053047 1.3 Ensembl ENCODE dbSUPER 0.7 -3.4 -3356 2.2 HDAC1 FOS IKZF2 JUNB CEBPB SMARCA4 CEBPA IKZF1 KDM1A SOX13 ICK FBXO9 GC06P053034
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO9 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBXO9 Gene

Chromosome:
6
Start:
53,051,991 bp from pter
End:
53,100,873 bp from pter
Size:
48,883 bases
Orientation:
Plus strand

Genomic View for FBXO9 Gene

Genes around FBXO9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO9 Gene

Proteins for FBXO9 Gene

  • Protein details for FBXO9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK97-FBX9_HUMAN
    Recommended name:
    F-box only protein 9
    Protein Accession:
    Q9UK97
    Secondary Accessions:
    • A6NFW3
    • B3KMM6
    • O75986
    • Q59EH8
    • Q6PKH7
    • Q9NT57
    • Q9Y593

    Protein attributes for FBXO9 Gene

    Size:
    447 amino acids
    Molecular mass:
    52329 Da
    Quaternary structure:
    • Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO9) composed of CUL1, SKP1, RBX1 and FBXO9. Interacts with TTI1 and TELO2; when TTI1 and TELO2 are phosphorylated by CK2.
    Miscellaneous:
    • Overexpressed in multiple myeloma leading to constitutive activation of the PI(3)K/mTORC2/Akt pathway to promote survival.

    Alternative splice isoforms for FBXO9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO9 Gene

Post-translational modifications for FBXO9 Gene

  • Ubiquitination at isoforms=2, 3115
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBXO9 Gene

Domains & Families for FBXO9 Gene

Gene Families for FBXO9 Gene

Protein Domains for FBXO9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBXO9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXO9: view

No data available for UniProtKB/Swiss-Prot for FBXO9 Gene

Function for FBXO9 Gene

Molecular function for FBXO9 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 TTI1 and TELO2 in a CK2-dependent manner, thereby directly regulating mTOR signaling. SCF(FBXO9) recognizes and binds mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, the SCF(FBXO9) does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTORC1 is inactivated to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1.

Gene Ontology (GO) - Molecular Function for FBXO9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 22632967
genes like me logo Genes that share ontologies with FBXO9: view
genes like me logo Genes that share phenotypes with FBXO9: view

Animal Models for FBXO9 Gene

MGI Knock Outs for FBXO9:

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 FBXO9 Gene

Localization for FBXO9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO9 Gene

Cytoplasm.

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 FBXO9 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for FBXO9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 10531035
GO:0005737 cytoplasm IEA,IDA 23263282
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IDA 23263282
genes like me logo Genes that share ontologies with FBXO9: view

Pathways & Interactions for FBXO9 Gene

genes like me logo Genes that share pathways with FBXO9: view

UniProtKB/Swiss-Prot Q9UK97-FBX9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXO9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination NAS 10531035
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA 23263282
GO:0032006 regulation of TOR signaling IMP 23263282
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXO9: view

No data available for SIGNOR curated interactions for FBXO9 Gene

Drugs & Compounds for FBXO9 Gene

No Compound Related Data Available

Transcripts for FBXO9 Gene

Unigene Clusters for FBXO9 Gene

F-box protein 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - - - -
SP2:
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for FBXO9 Gene

GeneLoc Exon Structure for
FBXO9
ECgene alternative splicing isoforms for
FBXO9

Expression for FBXO9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBXO9 Gene

This gene is overexpressed in Urinary Bladder (47.4) and CD8 Tcells (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO9 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBXO9 Gene:

FBXO9

SOURCE GeneReport for Unigene cluster for FBXO9 Gene:

Hs.216653

Evidence on tissue expression from TISSUES for FBXO9 Gene

  • Nervous system(4.7)
  • Heart(4.3)
  • Liver(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with FBXO9: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO9 Gene

Orthologs for FBXO9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FBXO9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO9 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia FBXO9 34 35
  • 94.56 (n)
cow
(Bos Taurus)
Mammalia FBXO9 34 35
  • 90.44 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo9 34
  • 89.89 (n)
mouse
(Mus musculus)
Mammalia Fbxo9 34 16 35
  • 87.92 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO9 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves FBXO9 34 35
  • 79.57 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO9 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo9 34
  • 74.92 (n)
MGC75727 34
African clawed frog
(Xenopus laevis)
Amphibia fbxo9-prov 34
zebrafish
(Danio rerio)
Actinopterygii fbxo9 34 35
  • 67.7 (n)
wufc79g12 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.856 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006784 34
  • 49.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5961 36 34 35
  • 45.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRT3 35 37
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for FBXO9 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for FBXO9 Gene

ENSEMBL:
Gene Tree for FBXO9 (if available)
TreeFam:
Gene Tree for FBXO9 (if available)

Paralogs for FBXO9 Gene

No data available for Paralogs for FBXO9 Gene

Variants for FBXO9 Gene

Sequence variations from dbSNP and Humsavar for FBXO9 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000044763 -- 53,056,742(+) TCACA(A/G)TAAAG intron-variant, upstream-variant-2KB
rs1000073603 -- 53,063,899(+) CCAGC(C/T)TCACC intron-variant, upstream-variant-2KB
rs1000095883 -- 53,080,432(+) AAGCT(C/T)ATTTT intron-variant
rs1000109191 -- 53,087,362(+) AAAAA(A/G)AGAGA intron-variant
rs1000426908 -- 53,080,725(+) CAACA(C/T)CTGTA intron-variant

Variation tolerance for FBXO9 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FBXO9 Gene

Disorders for FBXO9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FBXO9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multiple myeloma
  • myeloma, multiple amyloidosis, systemic, included
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
usher syndrome, type 1b
  • usher syndrome type 1
- elite association - COSMIC cancer census association via MalaCards
Search FBXO9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FBXO9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO9
genes like me logo Genes that share disorders with FBXO9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO9 Gene

Publications for FBXO9 Gene

  1. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4 64
  2. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 4 64
  3. SCF(Fbxo9) and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma. (PMID: 23263282) Fernandez-Saiz V. … Bassermann F. (Nat. Cell Biol. 2013) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for FBXO9 Gene

Sources for FBXO9 Gene

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