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Aliases for FBXO30 Gene

Aliases for FBXO30 Gene

  • F-Box Protein 30 2 3 5
  • F-Box Only Protein, Helicase, 18 2 3
  • Fbx30 3 4
  • F-Box Only Protein 30 3
  • F-Box Domain Protein 3

External Ids for FBXO30 Gene

Previous GeneCards Identifiers for FBXO30 Gene

  • GC06M145742
  • GC06M145966
  • GC06M146099
  • GC06M146160
  • GC06M143682

Summaries for FBXO30 Gene

Entrez Gene Summary for FBXO30 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 and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBXO30 Gene

FBXO30 (F-Box Protein 30) is a Protein Coding gene. Diseases associated with FBXO30 include Nasopharyngeal Carcinoma. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is FBXO40.

UniProtKB/Swiss-Prot for FBXO30 Gene

  • Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation.

Additional gene information for FBXO30 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO30 Gene

Genomics for FBXO30 Gene

GeneHancer (GH) Regulatory Elements for FBXO30 Gene

Promoters and enhancers for FBXO30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I145812 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.4 416 4.1 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 FBXO30 SHPRH LOC100507557 KATNBL1P6 ENSG00000280184
GH06I145808 Promoter 0.9 EPDnew 550.4 +6.4 6404 0.1 ZBTB21 JUN CEBPG ATF2 ZNF629 CREB1 ATF7 ZSCAN29 FBXO30 ENSG00000280184 LOC100507557
GH06I145816 Enhancer 0.5 ENCODE 550.8 -1.7 -1738 0 MEIS2 PKNOX1 FOXA2 SOX6 NFYC CHAMP1 FBXO30 GC06P145825 LOC100507557
GH06I146289 Enhancer 1.2 FANTOM5 Ensembl ENCODE 9 -475.7 -475694 1.3 ATF1 GTF2E2 JUN ETV1 MAX EBF1 ZBTB40 FOSL1 ZNF335 ZNF366 FBXO30 ENSG00000270638 RAB32 RNA5SP222 GC06P146172 GRM1
GH06I145845 Enhancer 0.6 ENCODE 12.7 -30.3 -30334 0.2 ZNF639 PKNOX1 MAFG BACH1 ZNF316 NFE2 MAFK EMSY NFE2L2 FBXO30 LOC100507557 GC06P145831 GC06P145856
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO30 gene promoter:

Genomic Locations for FBXO30 Gene

Genomic Locations for FBXO30 Gene
chr6:145,793,502-145,814,786
(GRCh38/hg38)
Size:
21,285 bases
Orientation:
Minus strand
chr6:146,114,638-146,135,921
(GRCh37/hg19)

Genomic View for FBXO30 Gene

Genes around FBXO30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO30 Gene

Proteins for FBXO30 Gene

  • Protein details for FBXO30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB52-FBX30_HUMAN
    Recommended name:
    F-box only protein 30
    Protein Accession:
    Q8TB52
    Secondary Accessions:
    • Q9BXZ7

    Protein attributes for FBXO30 Gene

    Size:
    745 amino acids
    Molecular mass:
    82304 Da
    Quaternary structure:
    • Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with SKP1, CUL1 and RBX1/ROC1 (By similarity).
    SequenceCaution:
    • Sequence=AAK30299.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK30299.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXO30 Gene

neXtProt entry for FBXO30 Gene

Post-translational modifications for FBXO30 Gene

Other Protein References for FBXO30 Gene

No data available for DME Specific Peptides for FBXO30 Gene

Domains & Families for FBXO30 Gene

Gene Families for FBXO30 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FBXO30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXO30: view

No data available for UniProtKB/Swiss-Prot for FBXO30 Gene

Function for FBXO30 Gene

Molecular function for FBXO30 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation.

Gene Ontology (GO) - Molecular Function for FBXO30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with FBXO30: view
genes like me logo Genes that share phenotypes with FBXO30: view

Animal Model Products

CRISPR Products

miRNA for FBXO30 Gene

miRTarBase miRNAs that target FBXO30

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO30 Gene

Localization for FBXO30 Gene

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 FBXO30 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBXO30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FBXO30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXO30 Gene

Pathways & Interactions for FBXO30 Gene

genes like me logo Genes that share pathways with FBXO30: view

UniProtKB/Swiss-Prot Q8TB52-FBX30_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXO30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXO30: view

No data available for SIGNOR curated interactions for FBXO30 Gene

Drugs & Compounds for FBXO30 Gene

No Compound Related Data Available

Transcripts for FBXO30 Gene

Unigene Clusters for FBXO30 Gene

F-box protein 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO30 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5
SP1: - -
SP2:

Relevant External Links for FBXO30 Gene

GeneLoc Exon Structure for
FBXO30
ECgene alternative splicing isoforms for
FBXO30

Expression for FBXO30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBXO30 Gene

This gene is overexpressed in Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for FBXO30 Gene

This gene is overexpressed in Testis (14.1), Colon (12.4), Rectum (9.8), Gallbladder (7.9), Placenta (6.6), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO30 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBXO30 Gene:

FBXO30

SOURCE GeneReport for Unigene cluster for FBXO30 Gene:

Hs.421095
genes like me logo Genes that share expression patterns with FBXO30: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO30 Gene

Orthologs for FBXO30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO30 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia FBXO30 33 34
  • 92.51 (n)
cow
(Bos Taurus)
Mammalia FBXO30 33 34
  • 90.84 (n)
mouse
(Mus musculus)
Mammalia Fbxo30 33 16 34
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo30 33
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO30 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO30 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO30 33 34
  • 75.89 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO30 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo30 33
  • 69.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14365 33
zebrafish
(Danio rerio)
Actinopterygii fbxo30a 33 34
  • 62.69 (n)
zgc63656 33
Species where no ortholog for FBXO30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 FBXO30 Gene

ENSEMBL:
Gene Tree for FBXO30 (if available)
TreeFam:
Gene Tree for FBXO30 (if available)

Paralogs for FBXO30 Gene

Paralogs for FBXO30 Gene

(1) SIMAP similar genes for FBXO30 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FBXO30: view

Variants for FBXO30 Gene

Sequence variations from dbSNP and Humsavar for FBXO30 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
VAR_036072 A colorectal cancer sample p.Ser8Cys
rs1000056269 -- 145,839,176(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000176436 -- 145,806,660(-) A/G/T intron_variant
rs1000188477 -- 145,824,909(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000221444 -- 145,818,542(-) TTTTTT/TTTTTTT genic_upstream_transcript_variant, intron_variant

Variation tolerance for FBXO30 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.44; 85.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXO30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FBXO30 Gene

Disorders for FBXO30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXO30 Gene - From: GeneCards

Disorder Aliases PubMed IDs
nasopharyngeal carcinoma
  • npca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXO30

genes like me logo Genes that share disorders with FBXO30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO30 Gene

Publications for FBXO30 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FBXO30 Gene

Sources for FBXO30 Gene

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