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FBXO45 Gene

protein-coding   GIFtS: 47
GCID: GC03P196295

F-Box Protein 45

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
F-Box Protein 451 2
F-Box Only Protein 452 3
hFbxo452 3
FBX453 5
Fbx452
F-Box/SPRY Domain-Containing Protein 12

External Ids:    HGNC: 291481   Entrez Gene: 2009332   Ensembl: ENSG000001740137   OMIM: 6091125   UniProtKB: P0C2W13   

Export aliases for FBXO45 gene to outside databases

Previous GC identifers: GC00U915701 GC03P197784 GC03P193593


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is SPSB2.

UniProtKB/Swiss-Prot: FBSP1_HUMAN, P0C2W1
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXO45 gene promoter:
         Pax-5   AML1a   SREBP-1c   STAT5A   GATA-1   SREBP-1b   AREB6   SREBP-1a   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXO45


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

FBXO45 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO45 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P196295:  view genomic region     (about GC identifiers)

Start:
196,295,482 bp from pter      End:
196,315,930 bp from pter
Size:
20,449 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FBSP1_HUMAN, P0C2W1 (See protein sequence)
Recommended Name: F-box/SPRY domain-containing protein 1  
Size: 286 amino acids; 30633 Da
Subunit: 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)
Secondary accessions: A6NF90 D3DXB5

Explore the universe of human proteins at neXtProt for FBXO45: NX_P0C2W1

Explore proteomics data for FBXO45 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FBXO45 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001099043.1  
    ENSEMBL proteins: 
     ENSP00000389868   ENSP00000310332  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBXO: F-boxes / "other"

    5 InterPro protein domains:
     IPR001870 B30.2/SPRY
     IPR001810 F-box_dom
     IPR003877 SPRY_rcpt
     IPR018355 SPla/RYanodine_receptor_subgr
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry P0C2W1

    ProtoNet protein and cluster: P0C2W1

    UniProtKB/Swiss-Prot: FBSP1_HUMAN, P0C2W1
    Similarity: Belongs to the FBXO45/Fsn family
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 F-box domain


    Find genes that share domains with FBXO45           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBSP1_HUMAN, P0C2W1
    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
    Induction: Down-regulated in response to DNA-damage

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19581926
         
    Find genes that share ontologies with FBXO45           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FBXO45:
     Increased circadian period len 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fbxo45):
     behavior/neurological  cellular  integument  mortality/aging  nervous system 
     respiratory system  skeleton 

    Find genes that share phenotypes with FBXO45           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fbxo45tm1Kei for FBXO45

       genOway: Develop your customized and physiologically relevant rodent model for FBXO45

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    Block miRNA regulation of human, mouse, rat FBXO45 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FBXO45 (see all 129):
    hsa-miR-140-5p hsa-miR-3653 hsa-miR-519a hsa-miR-3916 hsa-miR-877* hsa-let-7e hsa-miR-466 hsa-miR-3675-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBSP1_HUMAN, P0C2W1: Cell junction, synapse, postsynaptic cell membrane (By similarity). Cell junction, synapse,
    presynaptic cell membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytoskeleton2
    cytosol2
    extracellular2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014069postsynaptic density IEA--
    GO:0030054cell junction IEA--
    GO:0042734presynaptic membrane IEA--
    GO:0045202synapse ----
    GO:0045211postsynaptic membrane IEA--

    Find genes that share ontologies with FBXO45           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: FBSP1_HUMAN, P0C2W1
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBXO45
    Interactions:

        Search GeneGlobe Interaction Network for FBXO45

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for FBXO45 (P0C2W13 ENSP000003103324) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKP1P632083, ENSP000002314874I2D: score=6 STRING: ENSP00000231487
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    USP11P517843, ENSP000002183484I2D: score=2 STRING: ENSP00000218348
    MYCBP2ENSP000003498924STRING: ENSP00000349892
    PTGER3ENSP000003490034STRING: ENSP00000349003
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006974cellular response to DNA damage stimulus IDA19581926
    GO:0007399nervous system development IEA--
    GO:0016567protein ubiquitination ISS--
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA19581926
    GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process ISS--

    Find genes that share ontologies with FBXO45           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBXO45 (FBSP1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBXO45 gene: 
    NM_001105573.1  

    Unigene Cluster for FBXO45:

    F-box protein 45
    Hs.169815  [show with all ESTs]
    Unigene Representative Sequence: NM_001105573
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440469 ENST00000311630(uc010iai.3)
    miRNA
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    hsa-miR-140-5p hsa-miR-3653 hsa-miR-519a hsa-miR-3916 hsa-miR-877* hsa-let-7e hsa-miR-466 hsa-miR-3675-3p
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      QuantiFast Probe-based Assays in human, mouse, rat FBXO45

    Additional mRNA sequence: AK025697.1 

    6 DOTS entries:

    DT.95191844  DT.100740749  DT.106582  DT.120905800  DT.445275  DT.97773304 

    Selected AceView cDNA sequences (see all 139):

    BE302945 BU619599 Z40309 AA707904 BG538579 BQ007088 AW058438 BQ185727 
    BE207480 CF140200 CD677723 T17290 AA670305 AW268469 AA933911 R58849 
    AI656790 BF477808 CA445163 BQ422364 AL540179 AI637773 Z46036 BQ021825 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FBXO45 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGATGTGGA
    FBXO45 Expression
    About this image

    FBXO45 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBXO45 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169815
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FBXO45 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo451 , 5 F-box protein 451, 5 93.44(n)1
    99.2(a)1
      16 (22.45 cM)5
    2688821  NM_173439.21  NP_775615.21 
     322301125 
    chicken
    (Gallus gallus)
    Aves FBXO451 F-box protein 45 82.73(n)
    94.38(a)
      770111  XM_001232840.3  XP_001232841.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO456
    F-box protein 45
    93(a)
    1 ↔ 1
    3(30755274-30760878)
    African clawed frog
    (Xenopus laevis)
    Amphibia 3g27-prov2 cyclin-like F-box and SPla/RYanodine receptor SPRY more 80.69(n)    BC044070.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658752 hypothetical protein MGC65875 76.11(n)   393567  BC056756.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fsn1 Fsn 66.53(n)
    71.6(a)
      36460  NM_165973.2  NP_725266.1 
    worm
    (Caenorhabditis elegans)
    Secernentea fsn-11 fsn-1 52.69(n)
    56.05(a)
      175667  NM_065645.5  NP_498046.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBXO45 gene
    SPSB22  SPSB12  SPSB42  
    3 SIMAP similar genes for FBXO45 using alignment to 2 protein entries:     FBSP1_HUMAN (see all proteins):
    SPSB4    SPSB2    SPSB1

    Find genes that share paralogs with FBXO45           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBXO45 (see all 395)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888513701,2
    --196172095(+) CCCCTG/TCCTCA 1 -- int10--------
    rs126366661,2
    C,F,A,H--196297427(+) GCTAGC/TTTGCC 1 -- int123Minor allele frequency- T:0.27EA NS NA WA 2520
    rs1896996301,2
    --196297488(+) AAAATG/TTATAC 1 -- int10--------
    rs1165983921,2
    F--196297491(+) ATTTAT/CACTTA 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1379757281,2
    --196297497(+) ACTTAC/TGTAGT 1 -- int10--------
    rs1483509421,2
    C--196297579(+) TTCTT-/TTTTC 
            
    TTTTT
    1 -- int10--------
    rs613499071,2
    C--196297583(+) TTTTT-/C/CTT 
     T
    /TTTTT
    TTTTT
    1 -- int10--------
    rs711619371,2
    C--196297584(+) TTTTTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs98753411,2
    C,F,A,H--196297715(+) gtagcT/Cgggat 1 -- int14Minor allele frequency- C:0.40NA 10
    rs1826301331,2
    --196297835(+) CTTGGC/TCTCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for FBXO45 (196295482 - 196315930 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FBXO45:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829828CNV Loss17160897
    dgv5375n71CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609112    OMIM disorders: --


    Find genes that share disorders with FBXO45           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: FBXO45 (1 document)

    Export disorders for FBXO45 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBXO45 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with FBXO45)
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    1. The F-box protein FBXO45 promotes the proteasome-dependent degradation of p73. (PubMed id 19581926)1, 2 Peschiaroli A.... Melino G. (Oncogene 2009)
    2. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1, 2 Jin J....Harper J.W. (Genes Dev. 2004)
    3. Characterization of estrogen-induced F-box protein FBXO45. (PubMed id 16012741)1, 9 Yoshida K. (Oncol. Rep. 2005)
    4. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 2013)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 200933 HGNC: 29148 AceView: FBXO45 Ensembl:ENSG00000174013 euGenes: HUgn200933
    ECgene: FBXO45 H-InvDB: FBXO45

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBXO45 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBXO45 gene:
    Search GeneIP for patents involving FBXO45

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