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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FBXL8 Gene

protein-coding   GIFtS: 41
GCID: GC16P067193

F-box and leucine-rich repeat protein 8

  Search for FBXL8
in our new
 Human Malady Compendium 
Biological research products
for FBXL8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
F-Box And Leucine-Rich Repeat Protein 81 2 3
FBL82 3
F-Box Protein FBL82 3
Fbl81
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FBXL8:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FBXL8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
67,199,718 bp from pter
Size:
5,885 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

FBXL8 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

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

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FBXL8 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR001810 F-box_dom_cyclin-like

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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     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)

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI19159283


FBXL8 for ontologies           About GeneDecksing


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


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FBXL8
Search CenterWatch for drugs/clinical trials and news about FBXL8 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FBXL8 gene: 
NM_018378.2  

Unigene Cluster for FBXL8:

F-box and leucine-rich repeat protein 8
Hs.710714  [show with all ESTs]
Unigene Representative Sequence: BC014414
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000258200(uc002erk.1) ENST00000518148 ENST00000519945 ENST00000519917
ENST00000517382 ENST00000521920 ENST00000523893 ENST00000519378 ENST00000518753


miRNA
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hsa-miR-205* hsa-miR-4290
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Inhib. RNA
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Additional cDNA sequence: 

AK002140.1 BC014414.1 

7 DOTS entries:

DT.70105481  DT.95162422  DT.40215293  DT.100735803  DT.120699280  DT.95072645  DT.95162423 

24/76 AceView cDNA sequences (see all 76):

CA412687 BM710035 AI675519 CR611910 AW510427 BU783076 NM_018378 CR598009 
AW269998 BQ771634 AI684125 AW295973 BI906561 BQ014576 AI695801 BX379491 
BQ773906 BG164451 AI765859 AI564638 BF435646 AI632815 BC014414 BX102546 

GeneLoc Exon Structure

5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FBXL8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCCACCTT

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See FBXL8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBXL8

SOURCE GeneReport for Unigene cluster: Hs.710714
    SABiosciences Custom PCR Arrays for FBXL8
Primer
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In Situ
Assay Products:
 

 
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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FBXL8 gene from 4/11 species (see all 11)    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  XM_001232782.1  XP_001232783.1 
lizard
(Anolis carolinensis)
Reptilia FBXL86
--
44(a)
1 ↔ 1
5(108477480-108479997)
zebrafish
(Danio rerio)
Actinopterygii fbxl81 F-box and leucine-rich repeat protein 8 48.16(n)
39.88(a)
  641481  NM_001037422.1  NP_001032499.1 


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)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBXL8
DNA2.0 Custom Variant and Variant Library Synthesis for FBXL8

(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.)
About This Section

FBXL8 for disorders           About MalaCards

FBXL8 for disorders           About GeneDecksing

OMIM gene information: 609077    OMIM disorders: --

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)
About This Section

PubMed articles for FBXL8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FBXL8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
  4. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
  5. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
  6. Array MAPPIT: high-throughput interactome analysis in mammalian cells. (PubMed id 19159283)1 Lievens S....Tavernier J. (2009)
  7. 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. (2002)
  8. A family of mammalian F-box proteins. (PubMed id 10531037)1 Winston J.T....Harper J.W. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 55336 HGNC: 17875 AceView: HSF4andFBXL8 Ensembl:ENSG00000135722 euGenes: HUgn55336
ECgene: FBXL8 H-InvDB: FBXL8

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
(GIFTS: 73)
von Willebrand factor
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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