Human Gene FBXO5 (uc003qpg.3) Description and Page Index
  Description: Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.
RefSeq Summary (NM_012177): This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008].
Transcript (Including UTRs)
   Position: hg19 chr6:153,291,658-153,304,203 Size: 12,546 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr6:153,292,298-153,304,094 Size: 11,797 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:153,291,658-153,304,203)mRNA (may differ from genome)Protein (447 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FBX5_HUMAN
DESCRIPTION: RecName: Full=F-box only protein 5; AltName: Full=Early mitotic inhibitor 1;
FUNCTION: Regulates progression through early mitosis by inhibiting the anaphase promoting complex/cyclosome (APC). Binds to the APC activators CDC20 and FZR1/CDH1 to prevent APC activation. Can also bind directly to the APC to inhibit substrate-binding.
SUBUNIT: Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity). Interacts with BTRC, FZR1/CDH1 and the N-terminal substrate-binding domain of CDC20. Also interacts with EVI5 which blocks its phosphorylation by PLK1 and prevents its subsequent binding to BTRC and degradation.
INTERACTION: P30260:CDC27; NbExp=2; IntAct=EBI-852298, EBI-994813; O60447:EVI5; NbExp=6; IntAct=EBI-852298, EBI-852291;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=In interphase, localizes in a punctate manner in the nucleus and cytoplasm with some perinuclear concentration. In mitotic cells, localizes throughout the cell, particularly at the spindle.
DEVELOPMENTAL STAGE: Accumulates in late G1 phase, levels rise during S phase and drop in early mitosis.
DOMAIN: The C-terminal region is required for inhibition of APC activity.
PTM: Phosphorylation by CDK2 and subsequently by PLK1 triggers degradation during early mitosis through ubiquitin-mediated proteolysis by the SCF ubiquitin ligase complex containing the F- box protein BTRC. This degradation is necessary for the activation of APC in late mitosis and subsequent mitotic progression.
PTM: Ubiquitinated by the by the SCF(BTRC) complex following phosphorylation by PLK1.
SIMILARITY: Contains 1 F-box domain.
SIMILARITY: Contains 1 IBR-type zinc finger.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FBXO5
CDC HuGE Published Literature: FBXO5
Positive Disease Associations: Blood Pressure Determination
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.63 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 66.66 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.50109-0.399 Picture PostScript Text
3' UTR -119.02640-0.186 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
IPR001810 - F-box_dom_cyclin-like

Pfam Domains:
PF00646 - F-box domain

ModBase Predicted Comparative 3D Structure on Q9UKT4
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0046872 metal ion binding
GO:1990948 ubiquitin ligase inhibitor activity

Biological Process:
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0001556 oocyte maturation
GO:0007049 cell cycle
GO:0007057 spindle assembly involved in female meiosis I
GO:0007088 regulation of mitotic nuclear division
GO:0007346 regulation of mitotic cell cycle
GO:0016050 vesicle organization
GO:0040020 regulation of meiotic nuclear division
GO:0045835 negative regulation of meiotic nuclear division
GO:0046785 microtubule polymerization
GO:0051225 spindle assembly
GO:0051301 cell division
GO:1904667 negative regulation of ubiquitin protein ligase activity

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AF129535 - Homo sapiens F-box protein Fbx5 (FBX5) mRNA, complete cds.
AJ420499 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1952236.
AK055221 - Homo sapiens cDNA FLJ30659 fis, clone DFNES2000443, highly similar to F-box only protein 5.
BC018905 - Homo sapiens F-box protein 5, mRNA (cDNA clone MGC:10344 IMAGE:3960052), complete cds.
JD491446 - Sequence 472470 from Patent EP1572962.
JD096602 - Sequence 77626 from Patent EP1572962.
AY079515 - Homo sapiens early mitotic inhibitor (FBXO5) mRNA, complete cds.
AK314456 - Homo sapiens cDNA, FLJ95258, highly similar to Homo sapiens F-box protein 5 (FBXO5), mRNA.
KJ898616 - Synthetic construct Homo sapiens clone ccsbBroadEn_08010 FBXO5 gene, encodes complete protein.
DQ891922 - Synthetic construct clone IMAGE:100004552; FLH181437.01X; RZPDo839D05136D F-box protein 5 (FBXO5) gene, encodes complete protein.
DQ895106 - Synthetic construct Homo sapiens clone IMAGE:100009566; FLH181433.01L; RZPDo839D05135D F-box protein 5 (FBXO5) gene, encodes complete protein.
AK026197 - Homo sapiens cDNA: FLJ22544 fis, clone HSI00219, highly similar to AF129535 Homo sapiens F-box protein Fbx5 (FBX5) mRNA.
JD157309 - Sequence 138333 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04114 - Oocyte meiosis

Reactome (by CSHL, EBI, and GO)

Protein Q9UKT4 (Reactome details) participates in the following event(s):

R-HSA-163010 Down Regulation of Emi1 through Phosphorylation of Emi1
R-HSA-174097 Association of Emi1 with Cdh1
R-HSA-174235 Association of Emi1 with Cdc20
R-HSA-174122 Phosphorylation of the Emi1 DSGxxS degron by Cyclin B:Cdc2
R-HSA-174174 Phosphorylation of the Emi1 DSGxxS degron by Plk1
R-HSA-174209 Phosphorylated Emi1 binds the beta-TrCP in the SCF complex
R-HSA-174159 Ubiquitination of Emi1 by SCF-beta-TrCP
R-HSA-68881 Mitotic Metaphase/Anaphase Transition
R-HSA-176408 Regulation of APC/C activators between G1/S and early anaphase
R-HSA-539107 Activation of E2F1 target genes at G1/S
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-176417 Phosphorylation of Emi1
R-HSA-174143 APC/C-mediated degradation of cell cycle proteins
R-HSA-69205 G1/S-Specific Transcription
R-HSA-68886 M Phase
R-HSA-453276 Regulation of mitotic cell cycle
R-HSA-69206 G1/S Transition
R-HSA-174113 SCF-beta-TrCP mediated degradation of Emi1
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B3KNX5, EMI1, FBX5, FBX5_HUMAN, NM_012177, NP_001135994, Q5TF47, Q8WV29, Q9UGC8, Q9UKT4
UCSC ID: uc003qpg.3
RefSeq Accession: NM_012177
Protein: Q9UKT4 (aka FBX5_HUMAN)
CCDS: CCDS5242.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_012177.3
exon count: 5CDS single in 3' UTR: no RNA size: 2109
ORF size: 1344CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2888.00frame shift in genome: no % Coverage: 99.24
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.