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Aliases for FBXO45 Gene

Aliases for FBXO45 Gene

  • F-Box Protein 45 2 3 5
  • F-Box Only Protein 45 3 4
  • HFbxo45 3 4
  • Fbx45 3 4
  • F-Box/SPRY Domain-Containing Protein 1 3

External Ids for FBXO45 Gene

Previous GeneCards Identifiers for FBXO45 Gene

  • GC00U915701
  • GC03P197784
  • GC03P196295
  • GC03P193593

Summaries for FBXO45 Gene

Entrez Gene Summary for FBXO45 Gene

  • Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (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 (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]

GeneCards Summary for FBXO45 Gene

FBXO45 (F-Box Protein 45) is a Protein Coding gene. Diseases associated with FBXO45 include Chromosome 3Q29 Duplication Syndrome and Chromosome 3Q29 Microduplication Syndrome. An important paralog of this gene is SPSB2.

UniProtKB/Swiss-Prot for FBXO45 Gene

  • Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May controls synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO45 Gene

Genomics for FBXO45 Gene

Regulatory Elements for FBXO45 Gene

Enhancers for FBXO45 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
GH03G196527 1.7 FANTOM5 ENCODE dbSUPER 21.7 -40.1 -40068 1.8 PKNOX1 ATF1 CREB3L1 ARNT SIN3A YY1 TCF12 ZNF121 GTF3C2 ZNF766 FBXO45 RNF168 SDHAP2 LINC00969 ENSG00000230732 WDR53 MUC20P1 UBXN7 CEP19 NCBP2
GH03G196532 0.8 ENCODE 21.4 -35.3 -35294 0.9 HDAC1 ZNF146 TEAD4 ZIC2 GLIS2 GATA3 GATA2 ZNF600 PRDM10 SMARCE1 FBXO45 RNF168 WDR53 MELTF-AS1 RPS29P3 ENSG00000213358
GH03G196567 1.1 ENCODE 8.6 +0.2 179 2.6 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 RNF168 CEP19 LINC01063 SDHAP2 MIR570 NCBP2 NCBP2-AS1 RNU6-910P TM4SF19 FBXO45
GH03G196562 1.2 FANTOM5 ENCODE 6.4 -4.6 -4629 2.4 NFIB ARNT GTF3C2 ZNF366 EGR1 FOS CREM MIER1 CEBPB ZEB2 SDHAP2 LINC00969 ENSG00000230732 MUC20P1 CEP19 UBXN7 NCBP2 NCBP2-AS1 RNF168 RNU6-910P
GH03G196498 1.4 ENCODE dbSUPER 5.3 -66.8 -66750 5.9 HDGF PKNOX1 CREB3L1 MLX WRNIP1 SIN3A ARID4B DMAP1 YY1 SLC30A9 SDHAP2 RNF168 LINC00969 ENSG00000230732 ENSG00000271662 RNU6ATAC24P MUC20P1 UBXN7 ENSG00000231443 TM4SF19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO45 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO45 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164430 189 2001 HDGF MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

Genomic Location for FBXO45 Gene

Chromosome:
3
Start:
196,568,611 bp from pter
End:
196,589,059 bp from pter
Size:
20,449 bases
Orientation:
Plus strand

Genomic View for FBXO45 Gene

Genes around FBXO45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO45 Gene

Proteins for FBXO45 Gene

  • Protein details for FBXO45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C2W1-FBSP1_HUMAN
    Recommended name:
    F-box/SPRY domain-containing protein 1
    Protein Accession:
    P0C2W1
    Secondary Accessions:
    • A6NF90
    • D3DXB5

    Protein attributes for FBXO45 Gene

    Size:
    286 amino acids
    Molecular mass:
    30633 Da
    Quaternary structure:
    • Forms a complex with MYCBP2 and SKP1 but does not appear to form an authentic SCF (SKP1-CUL1-F-box protein) complex (By similarity). Interacts (via B30.2/SPRY domain) with TP73 (via SAM domain); leading to TP73 ubiquitination and degradation by proteasome. Interacts (via SRY domain) with UNC13A; leading to degradation of UNC13A by the proteasome (By similarity).

neXtProt entry for FBXO45 Gene

Post-translational modifications for FBXO45 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO45 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FBXO45 Gene

Domains & Families for FBXO45 Gene

Gene Families for FBXO45 Gene

Protein Domains for FBXO45 Gene

Suggested Antigen Peptide Sequences for FBXO45 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C2W1

UniProtKB/Swiss-Prot:

FBSP1_HUMAN :
  • Belongs to the FBXO45/Fsn family.
Family:
  • Belongs to the FBXO45/Fsn family.
genes like me logo Genes that share domains with FBXO45: view

Function for FBXO45 Gene

Molecular function for FBXO45 Gene

UniProtKB/Swiss-Prot Function:
Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May controls synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation.
UniProtKB/Swiss-Prot Induction:
Down-regulated in response to DNA-damage.

Gene Ontology (GO) - Molecular Function for FBXO45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19581926
genes like me logo Genes that share ontologies with FBXO45: view
genes like me logo Genes that share phenotypes with FBXO45: view

Animal Models for FBXO45 Gene

MGI Knock Outs for FBXO45:

Animal Model Products

CRISPR Products

miRNA for FBXO45 Gene

miRTarBase miRNAs that target FBXO45

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO45 Gene

Localization for FBXO45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO45 Gene

Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, presynaptic cell membrane.

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 FBXO45 gene
Compartment Confidence
plasma membrane 3
cytosol 3
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FBXO45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IEA --
genes like me logo Genes that share ontologies with FBXO45: view

Pathways & Interactions for FBXO45 Gene

SuperPathways for FBXO45 Gene

No Data Available

UniProtKB/Swiss-Prot P0C2W1-FBSP1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXO45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 19581926
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0016567 protein ubiquitination ISS --
genes like me logo Genes that share ontologies with FBXO45: view

No data available for Pathways by source and SIGNOR curated interactions for FBXO45 Gene

Drugs & Compounds for FBXO45 Gene

No Compound Related Data Available

Transcripts for FBXO45 Gene

mRNA/cDNA for FBXO45 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(139) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FBXO45 Gene

F-box protein 45:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO45 Gene

No ASD Table

Relevant External Links for FBXO45 Gene

GeneLoc Exon Structure for
FBXO45
ECgene alternative splicing isoforms for
FBXO45

Expression for FBXO45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO45 Gene

Protein differential expression in normal tissues from HIPED for FBXO45 Gene

This gene is overexpressed in Pancreatic juice (52.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO45 Gene



Protein tissue co-expression partners for FBXO45 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXO45 Gene:

FBXO45

SOURCE GeneReport for Unigene cluster for FBXO45 Gene:

Hs.169815

Evidence on tissue expression from TISSUES for FBXO45 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with FBXO45: 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 FBXO45 Gene

Orthologs for FBXO45 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBXO45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO45 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXO45 34 35
  • 96.39 (n)
dog
(Canis familiaris)
Mammalia FBXO45 34 35
  • 95.18 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO45 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo45 34
  • 93.46 (n)
mouse
(Mus musculus)
Mammalia Fbxo45 34 16 35
  • 93.44 (n)
chicken
(Gallus gallus)
Aves FBXO45 34 35
  • 82.73 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO45 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo45 34
  • 78.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia 3g27-prov 34
zebrafish
(Danio rerio)
Actinopterygii fbxo45 34 35
  • 74.73 (n)
zgc65875 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14037 34
fruit fly
(Drosophila melanogaster)
Insecta Fsn 34 35
  • 66.53 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012460 34
  • 61.13 (n)
worm
(Caenorhabditis elegans)
Secernentea fsn-1 34 35
  • 52.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6685 35
  • 61 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.980 34
Species where no ortholog for FBXO45 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 FBXO45 Gene

ENSEMBL:
Gene Tree for FBXO45 (if available)
TreeFam:
Gene Tree for FBXO45 (if available)

Paralogs for FBXO45 Gene

Paralogs for FBXO45 Gene

(3) SIMAP similar genes for FBXO45 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FBXO45: view

Variants for FBXO45 Gene

Sequence variations from dbSNP and Humsavar for FBXO45 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000296141 -- 196,572,328(+) TCAAA(A/T)AATCA intron-variant
rs1000496381 -- 196,571,086(+) GGATA(C/T)TGGTT intron-variant
rs1000828530 -- 196,576,970(+) TATCA(A/G)ATATA intron-variant
rs1000843650 -- 196,583,334(+) AACCC(A/G)TCTCT intron-variant
rs1000880689 -- 196,577,333(+) TACTT(C/G)TGTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO45 Gene

Variant ID Type Subtype PubMed ID
nsv1003066 CNV gain 25217958
nsv1014692 CNV gain 25217958
nsv829828 CNV loss 17160897

Variation tolerance for FBXO45 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO45 Gene

Human Gene Mutation Database (HGMD)
FBXO45
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO45

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO45 Gene

Disorders for FBXO45 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FBXO45 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 3q29 duplication syndrome
  • 3q29 microduplication
chromosome 3q29 microduplication syndrome
  • chromosome 3q29 duplication syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FBXO45

Human Genome Epidemiology (HuGE) Navigator
FBXO45
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO45
genes like me logo Genes that share disorders with FBXO45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO45 Gene

Publications for FBXO45 Gene

  1. The F-box protein FBXO45 promotes the proteasome-dependent degradation of p73. (PMID: 19581926) Peschiaroli A. … Melino G. (Oncogene 2009) 3 4 64
  2. Characterization of estrogen-induced F-box protein FBXO45. (PMID: 16012741) Yoshida K. (Oncol. Rep. 2005) 3 22 64
  3. Systematic analysis and nomenclature of mammalian F-box proteins. (PMID: 15520277) Jin J. … Harper J.W. (Genes Dev. 2004) 3 4 64
  4. Low Expression of FBXO45 Is Associated with Gastric Cancer Progression and Poor Prognosis. (PMID: 28011490) Kogure N. … Kuwano H. (Anticancer Res. 2017) 3 64
  5. The Dual Estrogen Receptor I+ Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. (PMID: 26487511) Han S.J. … O'Malley B.W. (Mol. Pharmacol. 2016) 3 64

Products for FBXO45 Gene

Sources for FBXO45 Gene

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