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UOX Gene

pseudogene   GIFtS: 26
GCID: GC01M084830

Urate Oxidase, Pseudogene

(Previous name: urate oxidase)
  Search for UOX
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
Urate Oxidase, Pseudogene1 2
Urate Oxidase1
UOXP2
URICASE2

External Ids:    HGNC: 125751   Entrez Gene: 3910512   Ensembl: ENSG000002405207   OMIM: 1915405   

Export aliases for UOX gene to outside databases

Previous GC identifers: GC01U990181 GC01M084602 GC01M082940


(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 UOX Gene:
Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated
by mutation and is nonfunctional in humans and some other primates. (provided by RefSeq, Jul 2008)

GeneCards Summary for UOX Gene:
UOX (urate oxidase, pseudogene) is a pseudogene.

Gene Wiki entry for UOX (Urate oxidase) Gene


(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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the UOX gene promoter:
         STAT5B   Sox5   AML1a   NRSF form 1   IRF-1   NRSF form 2   C/EBPalpha   E47   Hand1   ATF6   
         Other transcription factors

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


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

Entrez Gene cytogenetic band: 1p22   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M084830:  view genomic region     (about GC identifiers)

Start:
84,830,641 bp from pter      End:
84,863,576 bp from pter
Size:
32,936 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for UOX

(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: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(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:
     Genatlas biochemistry entry for UOX:
urate-oxidase,rat sequence homolog (not expressed in humans)

Phenotypes:
     5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Uox):
 behavior/neurological  homeostasis/metabolism  immune system  mortality/aging  renal/urinary system 

UOX for phenotypes           About GeneDecksing

Animal Models:
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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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  --

(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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Interactions:

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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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(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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Unigene Cluster for UOX:

Urate oxidase, pseudogene
Hs.647646  [show with all ESTs]
Unigene Representative Sequence: NR_003927
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000471089(uc009wcg.3) ENST00000483236
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Additional mRNA sequence: NR_003927.1 

2 DOTS entries:

DT.121454614  DT.75136422 

6 AceView cDNA sequences:

BQ271106 BQ271399 AI208826 BG217060 BG185251 BG187340 

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

UOX Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.647646
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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 human and mouse.

Orthologs for UOX gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Uox5 urate oxidase   --   3 (72.09 cM) 146597077 


ENSEMBL Gene Tree for UOX (if available)
TreeFam Gene Tree for UOX (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 UOX (see all 616)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1890784261,2
--84830263(+) TTCATA/GTTTGG 1 -- int10--------
rs1905345951,2
--84830284(+) AAAGTA/GCATGG 1 -- int10--------
rs793870811,2
F--84830367(+) CTAGTC/GTTCTT 1 -- int11Minor allele frequency- G:0.06NA 120
rs1996996271,2
C--84830459(+) TCAAAA/GANNNN 1 -- int10--------
rs717670281,2
C--84830462(+) AGAAA-/AAAC  
        
ATTTC
1 -- int10--------
rs1115909751,2
C,F--84830705(+) AAACAG/ATATTT 1 -- nc-transcript-variant1Minor allele frequency- A:0.00CSA 1
rs1870768201,2
--84830885(+) TTATAA/GCCATA 1 -- nc-transcript-variant0--------
rs1919314421,2
--84830907(+) AATTAC/TTAATA 1 -- nc-transcript-variant0--------
rs1844265931,2
--84830911(+) ACTAAC/TAAGGT 1 -- nc-transcript-variant0--------
rs1379669321,2
--84830916(+) TAAGGC/TAATCC 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for UOX (84830641 - 84863576 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for UOX:    About this table    
Variant IDTypeSubtypePubMed ID
esv2677432CNV Deletion23128226
nsv1744CNV Insertion18451855
nsv830426CNV Gain17160897
nsv830437CNV Gain+Loss17160897

Site Specific Mutation Identification with PCR Assays
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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: 191540    OMIM disorders: --


UOX for disorders           About GeneDecksing

Genetic Association Database (GAD): UOX

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

  1. Localization of the human urate oxidase gene (UOX) to 1p22. (PubMed id 1395718)1, 3 Yeldandi A.V....Le Beau M.M. (Cytogenet. Cell Genet. 1992)
  2. Two independent mutational events in the loss of urate oxidase during hominoid evolution. (PubMed id 1556746)1, 3 Wu X.W....Caskey C.T. (J. Mol. Evol. 1992)
  3. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. (PubMed id 22095909)1 Lange C.M....Bochud P.Y. (Hepatology 2012)
  4. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PubMed id 20210993)1 Zhang Z.D....Gerstein M. (Genome Biol. 2010)
  5. Comparative genomics search for losses of long-established genes on the human lineage. (PubMed id 18085818)1 Zhu J....Haussler D. (PLoS Comput. Biol. 2007)
  6. Loss of urate oxidase activity in hominoids and its evolutionary implications. (PubMed id 11961098)1 Oda M....Takahata N. (Mol. Biol. Evol. 2002)
  7. Isolation and characterization of the DLAD/Dlad genes, which lie head-to-head with the genes for urate oxidase. (PubMed id 11700027)1 Shiokawa D. and Tanuma S. (Biochem. Biophys. Res. Commun. 2001)
  8. Human urate oxidase gene: cloning and partial sequence analysis reveal a stop codon within the fifth exon. (PubMed id 2403354)1 Yeldandi A.V....Reddy J.K. (Biochem. Biophys. Res. Commun. 1990)

(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: 391051 HGNC: 12575 AceView: LOC391051 Ensembl:ENSG00000240520 euGenes: HUgn391051
ECgene: UOX H-InvDB: UOX

(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 UOX 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 UOX gene:
Search GeneIP for patents involving UOX

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
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