Human Gene FBXO45 (uc010iai.3)
  Description: Homo sapiens F-box protein 45 (FBXO45), mRNA.
RefSeq Summary (NM_001105573): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr3:196,295,725-196,315,930 Size: 20,206 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr3:196,295,856-196,311,189 Size: 15,334 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:196,295,725-196,315,930)mRNA (may differ from genome)Protein (286 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBSP1_HUMAN
DESCRIPTION: RecName: Full=F-box/SPRY domain-containing protein 1; AltName: Full=F-box only protein 45; Short=hFbxo45;
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.
PATHWAY: Protein modification; protein ubiquitination.
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).
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane (By similarity). Cell junction, synapse, presynaptic cell membrane (By similarity).
INDUCTION: Down-regulated in response to DNA-damage.
SIMILARITY: Belongs to the FBXO45/Fsn family.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 F-box domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FBXO45
Diseases sorted by gene-association score: chromosome 3q29 microduplication syndrome (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.31 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 189.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.30131-0.521 Picture PostScript Text
3' UTR -1314.124741-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001870 - B30.2/SPRY
IPR008985 - ConA-like_lec_gl_sf
IPR001810 - F-box_dom_cyclin-like
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt

Pfam Domains:
PF00622 - SPRY domain
PF00646 - F-box domain
PF12937 - F-box-like

SCOP Domains:
81383 - F-box domain

ModBase Predicted Comparative 3D Structure on P0C2W1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001764 neuron migration
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006974 cellular response to DNA damage stimulus
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0016567 protein ubiquitination
GO:0021799 cerebral cortex radially oriented cell migration
GO:0021800 cerebral cortex tangential migration
GO:0021957 corticospinal tract morphogenesis
GO:0021960 anterior commissure morphogenesis
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0060384 innervation
GO:0060386 synapse assembly involved in innervation

Cellular Component:
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030054 cell junction
GO:0042734 presynaptic membrane
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AK025697 - Homo sapiens cDNA: FLJ22044 fis, clone HEP09141.
BC172382 - Synthetic construct Homo sapiens clone IMAGE:100069076, MGC:199087 F-box protein 45 (FBXO45) mRNA, encodes complete protein.
JD218107 - Sequence 199131 from Patent EP1572962.
JD135546 - Sequence 116570 from Patent EP1572962.
JD129868 - Sequence 110892 from Patent EP1572962.
JD204485 - Sequence 185509 from Patent EP1572962.
JD221059 - Sequence 202083 from Patent EP1572962.
JD166263 - Sequence 147287 from Patent EP1572962.
JD354783 - Sequence 335807 from Patent EP1572962.
JD378932 - Sequence 359956 from Patent EP1572962.
JD285202 - Sequence 266226 from Patent EP1572962.
JD436770 - Sequence 417794 from Patent EP1572962.
JD285632 - Sequence 266656 from Patent EP1572962.
JD389226 - Sequence 370250 from Patent EP1572962.
JD313345 - Sequence 294369 from Patent EP1572962.
JD163013 - Sequence 144037 from Patent EP1572962.
JD082926 - Sequence 63950 from Patent EP1572962.
JD460511 - Sequence 441535 from Patent EP1572962.
JD235816 - Sequence 216840 from Patent EP1572962.
JD068277 - Sequence 49301 from Patent EP1572962.
JD428842 - Sequence 409866 from Patent EP1572962.
JD522665 - Sequence 503689 from Patent EP1572962.
JD082786 - Sequence 63810 from Patent EP1572962.
JD221309 - Sequence 202333 from Patent EP1572962.
JD363565 - Sequence 344589 from Patent EP1572962.
JD353775 - Sequence 334799 from Patent EP1572962.
JD147095 - Sequence 128119 from Patent EP1572962.
JD212206 - Sequence 193230 from Patent EP1572962.
JD345721 - Sequence 326745 from Patent EP1572962.
JD147658 - Sequence 128682 from Patent EP1572962.
JD513969 - Sequence 494993 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NF90, D3DXB5, FBSP1_HUMAN, FBX45, NM_001105573, NP_001099043, P0C2W1
UCSC ID: uc010iai.3
RefSeq Accession: NM_001105573
Protein: P0C2W1 (aka FBSP1_HUMAN)
CCDS: CCDS46985.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001105573.1
exon count: 3CDS single in 3' UTR: no RNA size: 5743
ORF size: 861CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1397.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.