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Aliases for FBXO42 Gene

Aliases for FBXO42 Gene

  • F-Box Protein 42 2 3 5
  • Just One F-Box And Kelch Domain-Containing Protein 3 4
  • Fbx42 3 4
  • JFK 3 4
  • F-Box Only Protein 42 3
  • KIAA1332 4

External Ids for FBXO42 Gene

Previous GeneCards Identifiers for FBXO42 Gene

  • GC01M015956
  • GC01M016321
  • GC01M016445
  • GC01M016575
  • GC01M016577
  • GC01M015093
  • GC01M016580
  • GC01M016582
  • GC01M016584
  • GC01M016593
  • GC01M016603
  • GC01M016612
  • GC01M016620

Summaries for FBXO42 Gene

Entrez Gene Summary for FBXO42 Gene

  • Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]

GeneCards Summary for FBXO42 Gene

FBXO42 (F-Box Protein 42) is a Protein Coding gene. Diseases associated with FBXO42 include Parkinson Disease 15, Autosomal Recessive Early-Onset.

UniProtKB/Swiss-Prot for FBXO42 Gene

  • Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation.

Additional gene information for FBXO42 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO42 Gene

Genomics for FBXO42 Gene

GeneHancer (GH) Regulatory Elements for FBXO42 Gene

Promoters and enhancers for FBXO42 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
GH01I016348 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 578.7 +1.5 1520 5.5 SMAD1 ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 CBX5 ZNF213 FBXO42 SZRD1 ENSG00000237938 RPL22P3 SPEN ARHGEF19 CROCC RPS16P1 MFAP2 ZBTB17
GH01I016142 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +200.8 200830 17.5 CLOCK MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D EPHA2 SPEN CROCC ENSG00000237938 ZBTB17 TMEM51-AS1 FBXO42 RPL22P3 ARHGEF19 FBLIM1
GH01I015573 Enhancer 0.8 dbSUPER 35.1 +777.9 777903 2.4 FOXA2 ZFP64 RAD21 YY1 ZNF121 ZNF213 ZNF354C KLF7 ZNF214 ZNF654 SPEN ENSG00000237938 RPL22P3 FBXO42 RPS16P1 ZBTB17 CROCCP3 ENSG00000237301 LINC01772 SPATA21
GH01I016902 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -552.6 -552559 4.9 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000272426 CROCC ZBTB17 CROCCP3 LINC01772 RPL22P3 ARHGEF19 MFAP2 NBPF1 NECAP2
GH01I016121 Enhancer 1.2 ENCODE dbSUPER 18.1 +229.5 229508 2.5 HDGF FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 KLF7 ATF7 RUNX3 KLF13 RPL22P3 SPEN MFAP2 FBXO42 ZBTB17 EIF1AXP1 CROCCP3 ENSG00000224621 FAM131C NECAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO42 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO42 gene promoter:

Genomic Locations for FBXO42 Gene

Genomic Locations for FBXO42 Gene
chr1:16,246,839-16,352,491
(GRCh38/hg38)
Size:
105,653 bases
Orientation:
Minus strand
chr1:16,573,334-16,678,949
(GRCh37/hg19)

Genomic View for FBXO42 Gene

Genes around FBXO42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO42 Gene

Proteins for FBXO42 Gene

  • Protein details for FBXO42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P3S6-FBX42_HUMAN
    Recommended name:
    F-box only protein 42
    Protein Accession:
    Q6P3S6
    Secondary Accessions:
    • B3KP30
    • Q5TEU8
    • Q86XI0
    • Q8N3N4
    • Q8N5F8
    • Q9BRM0
    • Q9P2L4

    Protein attributes for FBXO42 Gene

    Size:
    717 amino acids
    Molecular mass:
    77839 Da
    Quaternary structure:
    • Component of some SCF complex, composed of CUL1, SKP1, RBX1 and FBXO42. Interacts (via the kelch domain) with p53/TP53; interaction is direct.
    SequenceCaution:
    • Sequence=CAI22561.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for FBXO42 Gene

Post-translational modifications for FBXO42 Gene

Other Protein References for FBXO42 Gene

No data available for DME Specific Peptides for FBXO42 Gene

Domains & Families for FBXO42 Gene

Gene Families for FBXO42 Gene

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

Protein Domains for FBXO42 Gene

Suggested Antigen Peptide Sequences for FBXO42 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXO42: view

No data available for UniProtKB/Swiss-Prot for FBXO42 Gene

Function for FBXO42 Gene

Molecular function for FBXO42 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation.

Gene Ontology (GO) - Molecular Function for FBXO42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25609649
genes like me logo Genes that share ontologies with FBXO42: view
genes like me logo Genes that share phenotypes with FBXO42: view

Animal Model Products

CRISPR Products

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 FBXO42 Gene

Localization for FBXO42 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 FBXO42 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FBXO42 Gene

Pathways & Interactions for FBXO42 Gene

SuperPathways for FBXO42 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FBXO42 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FBXO42 Gene

Drugs & Compounds for FBXO42 Gene

No Compound Related Data Available

Transcripts for FBXO42 Gene

Unigene Clusters for FBXO42 Gene

F-box protein 42:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO42 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a ·
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - -
SP8:
SP9:
SP10: - -
SP11: - - -
SP12: - -
SP13:

ExUns: 11b ^ 12 ^ 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for FBXO42 Gene

GeneLoc Exon Structure for
FBXO42
ECgene alternative splicing isoforms for
FBXO42

Expression for FBXO42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO42 Gene

Protein differential expression in normal tissues from HIPED for FBXO42 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (36.1), Fetal Brain (16.0), and Placenta (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO42 Gene



Protein tissue co-expression partners for FBXO42 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBXO42 Gene:

FBXO42

SOURCE GeneReport for Unigene cluster for FBXO42 Gene:

Hs.522384

Evidence on tissue expression from TISSUES for FBXO42 Gene

  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with FBXO42: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO42 Gene

Orthologs for FBXO42 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBXO42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO42 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia FBXO42 33 34
  • 93.49 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fbxo42 33
  • 91.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO42 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo42 33 16 34
  • 88.8 (n)
cow
(Bos Taurus)
Mammalia FBXO42 33 34
  • 87.59 (n)
chicken
(Gallus gallus)
Aves FBXO42 33 34
  • 80.35 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO42 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo42 33
  • 69.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5343 33
zebrafish
(Danio rerio)
Actinopterygii fbxo42 33 34
  • 69.06 (n)
Dr.24223 33
fruit fly
(Drosophila melanogaster)
Insecta CG6758 34
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.1 34
  • 21 (a)
OneToOne
Species where no ortholog for FBXO42 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)
  • 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)

Evolution for FBXO42 Gene

ENSEMBL:
Gene Tree for FBXO42 (if available)
TreeFam:
Gene Tree for FBXO42 (if available)

Paralogs for FBXO42 Gene

No data available for Paralogs for FBXO42 Gene

Variants for FBXO42 Gene

Sequence variations from dbSNP and Humsavar for FBXO42 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000008027 -- 16,292,254(-) A/T intron_variant
rs1000042450 -- 16,295,870(-) G/A intron_variant
rs1000048001 -- 16,317,002(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000099011 -- 16,308,115(-) A/C/G intron_variant
rs1000142923 -- 16,260,240(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO42 Gene

Variant ID Type Subtype PubMed ID
dgv18e212 CNV gain 25503493
esv1036042 CNV insertion 17803354
esv2618916 CNV deletion 19546169
esv2667137 CNV deletion 23128226
esv3577750 CNV loss 25503493
esv3585334 CNV gain 21293372
esv3585336 CNV loss 21293372
nsv1113081 CNV deletion 24896259
nsv3520 CNV insertion 18451855
nsv545641 CNV loss 21841781
nsv545642 CNV loss 21841781
nsv833869 CNV loss 17160897
nsv947414 CNV duplication 23825009

Variation tolerance for FBXO42 Gene

Residual Variation Intolerance Score: 5.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.12; 75.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXO42 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO42 Gene

Disorders for FBXO42 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXO42 Gene - From: DISEASES

Disorder Aliases PubMed IDs
parkinson disease 15, autosomal recessive early-onset
  • park15
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXO42

genes like me logo Genes that share disorders with FBXO42: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO42 Gene

Publications for FBXO42 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. JFK, a Kelch domain-containing F-box protein, links the SCF complex to p53 regulation. (PMID: 19509332) Sun L … Shang Y (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for FBXO42 Gene

Sources for FBXO42 Gene

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