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FBXL13 Gene

protein-coding   GIFtS: 46
GCID: GC07M102453

F-Box And Leucine-Rich Repeat Protein 13

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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 And Leucine-Rich Repeat Protein 131 2 3
FBL133 5
Fbl132
F-Box/LRR-Repeat Protein 132
EBXL135

External Ids:    HGNC: 216581   Entrez Gene: 2222352   Ensembl: ENSG000001610407   OMIM: 6090805   UniProtKB: Q8NEE63   

Export aliases for FBXL13 gene to outside databases

Previous GC identifers: GC07M102014 GC07M102047 GC07M102240 GC07M096815


(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 FBXL13 Gene:
Members of the F-box protein family, such as FBXL13, 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 (Jin et al., 2004 (PubMed 15520277)).(supplied
by OMIM, Mar 2008)

GeneCards Summary for FBXL13 Gene:
FBXL13 (F-box and leucine-rich repeat protein 13) is a protein-coding gene. An important paralog of this gene is FBXL2.

UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6
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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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXL13 gene promoter:
         GR   STAT1   Zic1   GR-alpha   Nkx5-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FBXL13 promoter sequence
   Search Chromatin IP Primers for FBXL13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXL13


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

FBXL13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL13 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M102453:  view genomic region     (about GC identifiers)

Start:
102,453,308 bp from pter      End:
102,715,288 bp from pter
Size:
261,981 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 101,813,674-102,075,654     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: FXL13_HUMAN, Q8NEE6 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 13  
Size: 735 amino acids; 83924 Da
Subunit: Directly interacts with SKP1 and CUL1 (By similarity)
Sequence caution: Sequence=CAD28506.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: C9J565 C9J566 Q6UVW7 Q6UVW8 Q75MN5 Q86UJ5 Q8N7Y4 Q8TCL2 Q8WUF9 Q8WUG0
Alternative splicing: 4 isoforms:  Q8NEE6-1   Q8NEE6-2   Q8NEE6-3   Q8NEE6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXL13: NX_Q8NEE6

Explore proteomics data for FBXL13 at MOPED


See FBXL13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001104508.1  NP_001274079.1  NP_659469.3  

ENSEMBL proteins: 
 ENSP00000368607   ENSP00000405434   ENSP00000388608   ENSP00000321927   ENSP00000409716  
 ENSP00000391550   ENSP00000390126   ENSP00000377367   ENSP00000368610   ENSP00000368608  

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Search eBioscience for ELISAs for FBXL13 


(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

2 InterPro protein domains:
 IPR006553 Leu-rich_rpt_Cys-con_subtyp
 IPR001810 F-box_dom

Graphical View of Domain Structure for InterPro Entry Q8NEE6

ProtoNet protein and cluster: Q8NEE6

UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6
Similarity: Contains 1 F-box domain
Similarity: Contains 17 LRR (leucine-rich) repeats


Find genes that share domains with FBXL13           About GenesLikeMe


(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, 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: FXL13_HUMAN, Q8NEE6
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 ----
     
Find genes that share ontologies with FBXL13           About GenesLikeMe


Phenotypes:
     3 GenomeRNAi human phenotypes for FBXL13:
 Increased G1 DNA content  Increased cell death HMECs cel  Increased gamma-H2AX phosphory 

     1 MGI phenotypic allele for Fbxl13 (no phenotypes)

Find genes that share phenotypes with FBXL13           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBXL13
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FBXL13

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FBXL13
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miRNA
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GenScript: all cDNA clones in your preferred vector (see all 2): FBXL13 (NM_001111038)
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In Situ Assay
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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
cytosol2
nucleus2
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 FBXL13
Interactions:

    Search GeneGlobe Interaction Network for FBXL13

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for FBXL13 (Q8NEE62 ENSP000003219274) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
InteractantInteraction Details
GeneCardExternal ID(s)
AGO1Q9UL182, ENSP000003623004MINT-6488590 STRING: ENSP00000362300
ATP5C1P365422MINT-6488590
DHX15O431432MINT-6488590
DHX30Q7L2E32MINT-6488590
DHX36Q9H2U12MINT-6488590
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(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 FBXL13 (FXL13)



(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 FBXL13 gene (3 alternative transcripts): 
NM_001111038.1  NM_001287150.1  NM_145032.3  

Unigene Cluster for FBXL13:

F-box and leucine-rich repeat protein 13
Hs.660029  [show with all ESTs]
Unigene Representative Sequence: NM_145032
14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000379305 ENST00000448002 ENST00000436908 ENST00000313221 ENST00000456695
ENST00000480422 ENST00000455112 ENST00000477915 ENST00000468216 ENST00000471074(uc003vav.2)
ENST00000440067 ENST00000393772(uc003vaq.2 uc003vas.2) ENST00000379308(uc010lir.1 uc003var.2)
ENST00000379306(uc010liq.1)
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBXL13
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  QuantiFast Probe-based Assays in human, mouse, rat FBXL13

Additional mRNA sequence: 

AK021560.1 AK095387.1 AK097537.1 AL713709.1 AY359238.1 AY359239.1 BC020572.2 BC020575.2 
BC026121.1 BC031285.1 

9 DOTS entries:

DT.40291861  DT.97836046  DT.91756103  DT.91680332  DT.92043870  DT.75164045  DT.102842563  DT.40265996 
DT.91819595 

Selected AceView cDNA sequences (see all 30):

BC020575 AL713709 AK097537 BC020572 NM_145032 CA428958 BE619161 BG167998 
BX956914 AY359239 AA515555 BC031285 BQ214016 BG035396 BP371079 AY359238 
AK095387 BC026121 BG723564 BG717734 BI562703 BP371152 BG722545 BM470112 

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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FBXL13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGATAAGAG
FBXL13 Expression
About this image


FBXL13 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood
 
 Testis (Reproductive System)
FBXL13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FBXL13 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.660029
    Custom PCR Arrays for FBXL13
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXL13

(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 eukaryotes.

Orthologs for FBXL13 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fbxl131 , 5 F-box and leucine-rich repeat protein 131, 5 76.38(n)1
68.62(a)1
  5 (9.83 cM)5
3201181  NM_001199632.11  NP_001186561.11 
 214838475 
chicken
(Gallus gallus)
Aves FBXL131 F-box and leucine-rich repeat protein 13 61.08(n)
51.18(a)
  417721  XM_415966.4  XP_415966.4 
lizard
(Anolis carolinensis)
Reptilia FBXL136
F-box and leucine-rich repeat protein 13
37(a)
1 ↔ 1
5(95236883-95294005)
tropical clawed frog
(Xenopus tropicalis)
Amphibia fbxl131 F-box and leucine-rich repeat protein 13 58.29(n)
48.58(a)
  100496930  XM_002933102.2  XP_002933148.2 
zebrafish
(Danio rerio)
Actinopterygii LOC1018834541 F-box/LRR-repeat protein 13-like 51.66(n)
39.61(a)
  101883454  XM_005163046.1  XP_005163103.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons EBF11 EBF1 39.8(n)
27.36(a)
  817087  NM_128106.3  NP_565597.1 
rice
(Oryza sativa)
Liliopsida Os02g02009001 Os02g0200900 40.87(n)
27.27(a)
  4328647  NM_001052757.1  NP_001046222.1 


ENSEMBL Gene Tree for FBXL13 (if available)
TreeFam Gene Tree for FBXL13 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FBXL13 gene
FBXL22  FBXL172  FBXL202  ENSG000002371022  FBXL162  FBXL72  LRRC292  FBXL152  
FBXL142  FBXL42  
1 SIMAP similar gene for FBXL13 using alignment to 4 protein entries:     FXL13_HUMAN (see all proteins):
FBXL2

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(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 FBXL13 (see all 4096)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1925553721,2
--102452860(+) AGACAC/TTGCAG 2 -- ds50010--------
rs1513152021,2
--102452885(+) TTCAGA/GTAGTT 2 -- ds50010--------
rs173960291,2
C,F,H--102452988(+) GTCTGG/AAAACC 2 -- ds500112Minor allele frequency- A:0.03NA NS EA 1066
rs1832237881,2
--102453084(+) TTATTA/CCCCTG 2 -- ds50010--------
rs1169820231,2
C,F--102453209(+) TGTAGA/GTTTTA 2 -- ds50011Minor allele frequency- G:0.03NA 120
rs3690984121,2
C--102453287(+) TGGCT-/CTTTTT 2 -- ds50010--------
rs1879592341,2
--102453312(+) TGAGAC/TGGAGT 2 -- ut310--------
rs102480821,2
C--102453331(+) gtcgcC/Tgaggc 2 -- ut310--------
rs1921945251,2
--102453376(+) CCTCCA/GCCTCT 2 -- ut310--------
rs1384958501,2
--102453450(+) ACACCC/TGGCTA 2 -- ut310--------

HapMap Linkage Disequilibrium report for FBXL13 (102453308 - 102703308 bp, first 250kb of FBXL13)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for FBXL13 (see all 23):    About this table    
Variant IDTypeSubtypePubMed ID
esv2676324CNV Deletion23128226
esv3724CNV Deletion18987735
esv2671890CNV Deletion23128226
esv2734951CNV Deletion23290073
esv2657047CNV Deletion23128226
esv2734948CNV Deletion23290073
esv2734949CNV Deletion23290073
esv2494890CNV Deletion19546169
esv2177009CNV Deletion18987734
esv1748254CNV Insertion17803354

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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: 609080    OMIM disorders: --


Find genes that share disorders with FBXL13           About GenesLikeMe

Genetic Association Database (GAD): FBXL13
Human Genome Epidemiology (HuGE) Navigator: FBXL13 (1 document)

Export disorders for FBXL13 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 FBXL13 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with FBXL13)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22. (PubMed id 15820312)1, 2 Curtiss N.P.... Shannon K.M. (Genomics 2005)
  3. 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)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
  6. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PubMed id 24035498)1 Tan M.K....Harper J.W. (Mol. Cell 2013)
  7. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
  8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
  10. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1 Jin J....Harper J.W. (Genes Dev. 2004)

(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: 222235 HGNC: 21658 AceView: FBXL13 Ensembl:ENSG00000161040 euGenes: HUgn222235
ECgene: FBXL13 H-InvDB: FBXL13

(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 FBXL13 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 FBXL13 gene:
Search GeneIP for patents involving FBXL13

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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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