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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
  • F-Box/SPRY Domain-Containing Protein 1 3
  • Fbx45 3
  • FBX45 4

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. An important paralog of this gene is SPSB4.

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 control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation.

Additional gene information for FBXO45 Gene

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

GeneHancer (GH) Regulatory Elements for FBXO45 Gene

Promoters and enhancers for FBXO45 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
GH03J196567 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 658.6 +0.2 178 2.6 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 FBXO45 WDR53 SDHAP1 UBXN7 SDHAP2 RNF168 SENP5 MUC20-OT1 MIR570 ENSG00000260261
GH03J196527 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 21.7 -40.1 -40068 1.8 PKNOX1 ATF1 ARNT SIN3A YY1 GTF3C2 TCF12 ZNF766 GATA2 ZNF143 ENSG00000213358 FBXO45 RNF168 SDHAP1 SDHAP2 MUC20-OT1 ENSG00000230732 WDR53 MUC20P1 UBXN7
GH03J196532 Enhancer 0.7 ENCODE 21.4 -35.3 -35293 0.9 HDAC1 ZNF146 USF1 ZIC2 YY1 GATA3 GLIS2 PRDM10 ZNF600 SMARCE1 FBXO45 RNF168 WDR53 MELTF-AS1 ENSG00000213358 RPS29P3
GH03J196498 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.3 -66.8 -66750 5.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 RNF168 LOC105374306 SDHAP1 SDHAP2 MUC20-OT1 RNU6ATAC24P UBXN7 ENSG00000230732 ENSG00000271662 MUC20P1
GH03J196562 Enhancer 1 FANTOM5 ENCODE 6.4 -4.6 -4629 2.4 TAF9B NFIB ARNT GTF3C2 EGR1 ATF7 CREM CEBPB ZEB2 NFIC SDHAP1 SDHAP2 MUC20-OT1 ENSG00000230732 MUC20P1 CEP19 UBXN7 NCBP2 NCBP2-AS1 RNF168
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXO45 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO45 gene promoter:
  • AREB6
  • STAT5A
  • Pax-4a
  • AML1a
  • Pax-5
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • GATA-1

Genomic Locations for FBXO45 Gene

Genomic Locations for FBXO45 Gene
chr3:196,568,611-196,589,059
(GRCh38/hg38)
Size:
20,449 bases
Orientation:
Plus strand
chr3:196,295,482-196,315,930
(GRCh37/hg19)
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

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

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 control 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.

Phenotypes From GWAS Catalog for FBXO45 Gene

Gene Ontology (GO) - Molecular Function for FBXO45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
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

miRNA for FBXO45 Gene

miRTarBase miRNAs that target FBXO45

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

Subcellular locations from the

Human Protein Atlas (HPA)

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:0019005 SCF ubiquitin ligase complex IBA --
GO:0030054 cell junction 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:0006511 ubiquitin-dependent protein catabolic process IDA 19581926
GO:0006974 cellular response to DNA damage stimulus IDA 19581926
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
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:

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, 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

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 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXO45 34 33
  • 96.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO45 34 33
  • 95.18 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXO45 34
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo45 33
  • 93.46 (n)
mouse
(Mus musculus)
Mammalia Fbxo45 16 34 33
  • 93.44 (n)
chicken
(Gallus gallus)
Aves FBXO45 34 33
  • 82.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO45 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo45 33
  • 78.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia 3g27-prov 33
zebrafish
(Danio rerio)
Actinopterygii fbxo45 34 33
  • 74.73 (n)
OneToOne
zgc65875 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14037 33
fruit fly
(Drosophila melanogaster)
Insecta Fsn 34 33
  • 66.53 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012460 33
  • 61.13 (n)
worm
(Caenorhabditis elegans)
Secernentea fsn-1 34 33
  • 52.69 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6685 34
  • 61 (a)
OneToOne
Cin.980 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.980 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for FBXO45: view image

Paralogs for FBXO45 Gene

Paralogs for FBXO45 Gene

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

  • FBSP1_HUMAN
  • C9JLC0_HUMAN
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 Variation AA Info Type
rs1000296141 -- 196,572,328(+) T/A intron_variant
rs1000496381 -- 196,571,086(+) C/T intron_variant
rs1000828530 -- 196,576,970(+) A/G intron_variant
rs1000843650 -- 196,583,334(+) G/A intron_variant
rs1000880689 -- 196,577,333(+) G/C 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)

Additional Variant Information 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

(1) MalaCards diseases for FBXO45 Gene - From: HGMD and DISEASES

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

Additional Disease Information for 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 58
  2. Characterization of estrogen-induced F-box protein FBXO45. (PMID: 16012741) Yoshida K (Oncology reports 2005) 3 22 58
  3. Systematic analysis and nomenclature of mammalian F-box proteins. (PMID: 15520277) Jin J … Harper JW (Genes & development 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Low Expression of FBXO45 Is Associated with Gastric Cancer Progression and Poor Prognosis. (PMID: 28011490) Kogure N … Kuwano H (Anticancer research 2017) 3 58

Products for FBXO45 Gene

Sources for FBXO45 Gene

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