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FBXO47 Gene

protein-coding   GIFtS: 41
GCID: GC17M037092

F-Box Protein 47

  See FBXO47-related disease
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 Protein 471 2
F-Box Only Protein 472

External Ids:    HGNC: 319691   Entrez Gene: 4941882   Ensembl: ENSG000002049527   OMIM: 6094985   UniProtKB: Q5MNV83   

Export aliases for FBXO47 gene to outside databases

Previous GC identifers: GC17U900551 GC17M034346 GC17M032887


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FBXO47 Gene:
FBXO47 (F-box protein 47) is a protein-coding gene. Diseases associated with FBXO47 include papillary renal cell carcinoma.

UniProtKB/Swiss-Prot: FBX47_HUMAN, Q5MNV8
Function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and
degradation (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_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXO47 gene promoter:
         HFH-3   AML1a   NF-AT   FOXI1   Egr-2   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO47 promoter sequence
   Search Chromatin IP Primers for FBXO47

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXO47


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

Entrez Gene cytogenetic band: 17q12|17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

FBXO47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO47 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M037092:  view genomic region     (about GC identifiers)

Start:
37,092,685 bp from pter      End:
37,123,655 bp from pter
Size:
30,971 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FBX47_HUMAN, Q5MNV8 (See protein sequence)
Recommended Name: F-box only protein 47  
Size: 452 amino acids; 51968 Da
Subunit: Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity)
Secondary accessions: B2RTZ4

Explore the universe of human proteins at neXtProt for FBXO47: NX_Q5MNV8

Explore proteomics data for FBXO47 at MOPED


See FBXO47 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001008777.2  
ENSEMBL proteins: 
 ENSP00000367319  

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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:
FBXO: F-boxes / "other"

1 InterPro protein domain:
 IPR001810 F-box_dom

Graphical View of Domain Structure for InterPro Entry Q5MNV8

ProtoNet protein and cluster: Q5MNV8

UniProtKB/Swiss-Prot: FBX47_HUMAN, Q5MNV8
Similarity: Contains 1 F-box domain


Find genes that share domains with FBXO47           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: FBX47_HUMAN, Q5MNV8
Function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and
degradation (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 FBXO47           About GenesLikeMe


Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Fbxo47):
 reproductive system 

Find genes that share phenotypes with FBXO47           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for FBXO47

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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
mitochondrion2
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 FBXO47
Interactions:

    Search GeneGlobe Interaction Network for FBXO47

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

2 Interacting proteins for FBXO47 (ENSP000003673194) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
SKP1ENSP000002314874STRING: ENSP00000231487
HSPB1ENSP000002485534STRING: ENSP00000248553
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
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  Browse compounds at ApexBio 

Browse Tocris compounds for FBXO47 (FBX47)



(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 FBXO47 gene: 
NM_001008777.2  

Unigene Cluster for FBXO47:

F-box protein 47
Hs.549536  [show with all ESTs]
Unigene Representative Sequence: NM_001008777
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000378079(uc002hrc.2)
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Additional mRNA sequence: 

AY700575.1 BC140879.1 BC140880.1 

1 DOTS entry:

DT.40128289 

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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FBXO47 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACTAATGGA
FBXO47 Expression
About this image


FBXO47 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
 
 Ovary (Reproductive System)
         XX Germ Cells Ovigerous Cord
 
 Gonad
         XX Germ Cells Ovigerous Cord
FBXO47 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FBXO47 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.549536

UniProtKB/Swiss-Prot: FBX47_HUMAN, Q5MNV8
Tissue specificity: Widely expressed, with highest levels in kidney, liver and pancreas. Down-regulated in tumors

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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)
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This gene was present in the common ancestor of chordates.

Orthologs for FBXO47 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fbxo471 , 5 F-box protein 471, 5 86.53(n)1
83.48(a)1
  11 (61.14 cM)5
729731  NM_001081435.11  NP_001074904.11 
 978538265 
chicken
(Gallus gallus)
Aves FBXO471 F-box protein 47 74.19(n)
74.12(a)
  771854  XM_001235077.2  XP_001235078.1 
lizard
(Anolis carolinensis)
Reptilia FBXO476
F-box protein 47
73(a)
1 ↔ 1
6(80711854-80729518)
tropical clawed frog
(Xenopus tropicalis)
Amphibia fbxo471 F-box protein 47 62.86(n)
61.42(a)
  100158537  NM_001127973.2  NP_001121445.2 


ENSEMBL Gene Tree for FBXO47 (if available)
TreeFam Gene Tree for FBXO47 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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 FBXO47 (see all 725)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1925888051,2
--37092281(+) AAGTAA/GAAGCA 1 -- ds50010--------
rs72096871,2
C,F,A,H--37092288(+) AGCAGG/TAGTGG 1 -- ds500115Minor allele frequency- T:0.07NS EA NA WA 1836
rs1826544991,2
--37092297(+) GGCAGA/TTGCTA 1 -- ds50010--------
rs1420365961,2
--37092319(+) ACAGTA/CCTGCA 1 -- ds50010--------
rs1881023331,2
--37092426(+) TCTTGC/TTTTTT 1 -- ds50010--------
rs38345641,2
C--37092847(+) GTGTC-/TA/   
  TATATA
TATAT
2 -- ut310--------
rs2009640121,2
--37092857(+) TATAT-/ACATAGA 1 -- ut310--------
rs1926794001,2
--37092973(+) GTATTC/GTACAC 1 -- ut310--------
rs1512248931,2
--37092995(+) CCATAC/TTGCAA 1 -- ut310--------
rs1841558031,2
--37093033(+) CTATAC/TAACTT 1 -- ut310--------

HapMap Linkage Disequilibrium report for FBXO47 (37092685 - 37123655 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for FBXO47:    About this table    
Variant IDTypeSubtypePubMed ID
esv2669787CNV Deletion23128226
esv1193917CNV 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: 609498    OMIM disorders: --

1 disease for FBXO47:    
About MalaCards
papillary renal cell carcinoma

1 disease from the University of Copenhagen DISEASES database for FBXO47:
Papillary renal cell carcinoma

Find genes that share disorders with FBXO47           About GenesLikeMe


Export disorders for FBXO47 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 FBXO47 gene integrated from 10 sources:
(articles sorted by number of sources associating them with FBXO47)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma. (PubMed id 15723337)1, 2, 3 Simon-Kayser B.... Bezieau S. (Genes Chromosomes Cancer 2005)
  2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. 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: 494188 HGNC: 31969 Ensembl:ENSG00000204952 euGenes: HUgn494188 ECgene: FBXO47
H-InvDB: FBXO47

(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 FBXO47 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 FBXO47 gene:
Search GeneIP for patents involving FBXO47

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, eBioscience, antibodies-online, 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 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 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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