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FBXL8 Gene

protein-coding   GIFtS: 43
GCID: GC16P067193

F-Box And Leucine-Rich Repeat Protein 8

  Search for FBXL8
at  

(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 And Leucine-Rich Repeat Protein 81 2 3
FBL82 3 5
F-Box Protein FBL82 3
F-Box/LRR-Repeat Protein 82

External Ids:    HGNC: 178751   Entrez Gene: 553362   Ensembl: ENSG000001357227   OMIM: 6090775   UniProtKB: Q96CD03   

Export aliases for FBXL8 gene to outside databases

Previous GC identifers: GC16U990141 GC16P067571 GC16P066929 GC16P066970 GC16P065751 GC16P053067


(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 FBXL8 Gene:
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 Fbls class. It shares 78% sequence identity with the mouse protein. (provided by RefSeq,
Jul 2008)

GeneCards Summary for FBXL8 Gene:
FBXL8 (F-box and leucine-rich repeat protein 8) is a protein-coding gene. An important paralog of this gene is ENSG00000265690.

UniProtKB/Swiss-Prot: FBXL8_HUMAN, Q96CD0
Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex
(By similarity)




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the FBXL8 gene promoter:
         E2F-1   E2F   p53   ATF-2   c-Jun   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXL8 promoter sequence
   Search Chromatin IP Primers for FBXL8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXL8


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1-q22.3

FBXL8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P067193:  view genomic region     (about GC identifiers)

Start:
67,193,834 bp from pter      End:
67,198,473 bp from pter
Size:
4,640 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FBXL8_HUMAN, Q96CD0 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 8  
Size: 374 amino acids; 40516 Da
Subunit: Directly interacts with SKP1 and CUL1 (By similarity)
Caution: While the gene symbol and protein names are indicative of the presence of LRR repeats, such repeats are
not present in this protein
Secondary accessions: Q9NUM0

Explore the universe of human proteins at neXtProt for FBXL8: NX_Q96CD0

Explore proteomics data for FBXL8 at MOPED


See FBXL8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060848.2  
ENSEMBL proteins: 
 ENSP00000258200   ENSP00000464169   ENSP00000429684   ENSP00000430490   ENSP00000430745  
 ENSP00000427895   ENSP00000428379   ENSP00000430027  

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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:
FBXL: F-boxes / Leucine-rich repeats

1 InterPro protein domain:
 IPR001810 F-box_dom

Graphical View of Domain Structure for InterPro Entry Q96CD0

ProtoNet protein and cluster: Q96CD0

UniProtKB/Swiss-Prot: FBXL8_HUMAN, Q96CD0
Similarity: Contains 1 F-box domain


FBXL8 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: FBXL8_HUMAN, Q96CD0
Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex
(By similarity)

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI19159283
     
FBXL8 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for FBXL8:
 Increased cell death HMECs cel 

Animal Models:
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2 qRT-PCR Assays for microRNAs that regulate FBXL8:
hsa-miR-205* hsa-miR-4290
SwitchGear 3'UTR luciferase reporter plasmidFBXL8 3' UTR sequence
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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 COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
nucleus1
peroxisome1

(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBXL8
Interactions:

    Search GeneGlobe Interaction Network for FBXL8

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for FBXL8 (Q96CD01, 3 ENSP000002582004) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
SKP1P632081, 3, ENSP000002314874EBI-2321097,EBI-307486 I2D: score=3 STRING: ENSP00000231487
ORC4ENSP000002641694STRING: ENSP00000264169
About this table

(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 FBXL8



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FBXL8 gene: 
NM_018378.2  

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000258200(uc002erk.1) ENST00000518148 ENST00000519945 ENST00000519917
ENST00000517382 ENST00000521920 ENST00000523893 ENST00000519378
miRNA
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2 qRT-PCR Assays for microRNAs that regulate FBXL8:
hsa-miR-205* hsa-miR-4290
SwitchGear 3'UTR luciferase reporter plasmidFBXL8 3' UTR sequence
Inhib. RNA
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Selected AceView cDNA sequences (see all 76):

BQ771634 AI632815 BU783076 BQ014576 BG164451 BF435646 BI906561 AW510427 
AI564638 NM_018378 CA412687 AI675519 AI684125 AW269998 AW295973 BX102546 
BM710035 CR598009 BQ773906 AI695801 CR611910 AI765859 BX379491 BQ673948 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for FBXL8 (see all 9)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b ^ 7
SP1:                          -     -                 -     -     -     -     -     -     -     -     -                     
SP2:                          -     -                 -     -                                                               
SP3:                          -     -                 -     -     -     -     -     -                                       
SP4:                          -     -                 -                                                                     
SP5:                                -                 -     -                                                               


ECgene alternative splicing isoforms for FBXL8

(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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FBXL8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGCCACCTT
FBXL8 Expression
About this image

FBXL8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FBXL8 Protein Expression
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In Situ
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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 chordates.

Orthologs for FBXL8 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fbxl81 , 5 F-box and leucine-rich repeat protein 81, 5 79.71(n)1
78.82(a)1
  8 (53.04 cM)5
507881  NM_015821.21  NP_056636.21 
 1052646485 
chicken
(Gallus gallus)
Aves FBXL81 F-box and leucine-rich repeat protein 8 52.33(n)
41.64(a)
  415701  NM_001277683.1  NP_001264612.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
44(a)
32(a)
many ↔ many
many ↔ many
5(108475502-108485600)
5(108466229-108473282)
tropical clawed frog
(Xenopus tropicalis)
Amphibia fbxl81 F-box and leucine-rich repeat protein 8 45.86(n)
36.67(a)
  100158652  NM_001128056.1  NP_001121528.1 
zebrafish
(Danio rerio)
Actinopterygii fbxl81 F-box and leucine-rich repeat protein 8 47.84(n)
40.22(a)
  641481  NM_001037422.2  NP_001032499.2 


ENSEMBL Gene Tree for FBXL8 (if available)
TreeFam Gene Tree for FBXL8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FBXL8 gene
ENSG000002656902  

FBXL8 for paralogs           About GeneDecksing



(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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Structural Variations
     Database of Genomic Variants (DGV) 9 variations for FBXL8:    About this table    
Variant IDTypeSubtypePubMed ID
dgv2887n71CNV Loss21882294
dgv2888n71CNV Loss21882294
nsv906794CNV Loss21882294
nsv906803CNV Loss21882294
dgv2886n71CNV Loss21882294
nsv827707CNV Loss20364138
dgv2885n71CNV Loss21882294
nsv524363CNV Loss19592680
nsv522852CNV Gain19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FBXL8
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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: 609077    OMIM disorders: --


FBXL8 for disorders           About GeneDecksing

Genetic Association Database (GAD): FBXL8
Human Genome Epidemiology (HuGE) Navigator: FBXL8 (3 documents)

Export disorders for FBXL8 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 FBXL8 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with FBXL8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  5. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
  6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
  8. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
  9. Array MAPPIT: high-throughput interactome analysis in mammalian cells. (PubMed id 19159283)1 Lievens S....Tavernier J. (J. Proteome Res. 2009)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55336 HGNC: 17875 AceView: HSF4andFBXL8 Ensembl:ENSG00000135722 euGenes: HUgn55336
ECgene: FBXL8 H-InvDB: FBXL8

(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 FBXL8 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FBXL8 gene:
Search GeneIP for patents involving FBXL8

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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