UOX (urate oxidase (pseudogene)) - Rat Genome Database

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Gene: UOX (urate oxidase (pseudogene)) Homo sapiens
Analyze
Symbol: UOX
Name: urate oxidase (pseudogene)
RGD ID: 1343488
HGNC Page HGNC:12575
Description: Predicted to enable urate oxidase activity. Predicted to be involved in allantoin metabolic process; amide catabolic process; and purine-containing compound catabolic process. Predicted to be active in peroxisome.
Type: pseudo (Ensembl: transcribed_unitary_pseudogene)
RefSeq Status: VALIDATED
Previously known as: UOXP; URICASE
RGD Orthologs
Mouse
Dog
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38184,364,958 - 84,384,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl184,365,428 - 84,397,831 (-)EnsemblGRCh38hg38GRCh38
GRCh37184,830,641 - 84,850,484 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36184,603,229 - 84,636,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera183,074,869 - 83,107,791 (-)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef182,940,714 - 82,973,588 (-)NCBIHuRef
CHM1_1184,945,478 - 84,978,413 (-)NCBICHM1_1
T2T-CHM13v2.0184,205,437 - 84,225,268 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
peroxisome  (ISO)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1395718   PMID:1556746   PMID:2403354   PMID:11329013   PMID:11700027   PMID:11961098   PMID:16344560   PMID:18085818   PMID:20210993   PMID:22095909   PMID:24550457   PMID:34718698  
PMID:36150210  


Genomics

Comparative Map Data
UOX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38184,364,958 - 84,384,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl184,365,428 - 84,397,831 (-)EnsemblGRCh38hg38GRCh38
GRCh37184,830,641 - 84,850,484 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36184,603,229 - 84,636,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera183,074,869 - 83,107,791 (-)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef182,940,714 - 82,973,588 (-)NCBIHuRef
CHM1_1184,945,478 - 84,978,413 (-)NCBICHM1_1
T2T-CHM13v2.0184,205,437 - 84,225,268 (-)NCBIT2T-CHM13v2.0
Uox
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393146,302,904 - 146,337,238 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3146,276,181 - 146,338,060 (+)EnsemblGRCm39 Ensembl
GRCm383146,597,149 - 146,631,483 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3146,570,426 - 146,632,305 (+)EnsemblGRCm38mm10GRCm38
MGSCv373146,260,113 - 146,294,447 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363146,534,535 - 146,568,869 (+)NCBIMGSCv36mm8
Celera3153,047,623 - 153,081,962 (+)NCBICelera
Cytogenetic Map3H2NCBI
cM Map372.09NCBI
UOX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1663,482,384 - 63,513,538 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl663,436,236 - 63,513,478 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha666,130,618 - 66,161,698 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0664,022,244 - 64,053,349 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl663,976,179 - 64,053,291 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1663,550,172 - 63,581,292 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0663,518,865 - 63,549,985 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0664,024,959 - 64,056,101 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in UOX
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:291
Count of miRNA genes:266
Interacting mature miRNAs:279
Transcripts:ENST00000471089, ENST00000483236
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S2889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37184,835,844 - 84,836,032UniSTSGRCh37
Build 36184,608,432 - 84,608,620RGDNCBI36
Celera183,080,072 - 83,080,248RGD
Cytogenetic Map1p22UniSTS
HuRef182,945,917 - 82,946,093UniSTS
Marshfield Genetic Map1116.72RGD
Marshfield Genetic Map1116.72UniSTS
Genethon Genetic Map1119.1UniSTS
TNG Radiation Hybrid Map148003.0UniSTS
deCODE Assembly Map1108.35UniSTS
GeneMap99-GB4 RH Map1236.58UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1548.3UniSTS
UOX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37184,850,307 - 84,850,412UniSTSGRCh37
Build 36184,622,895 - 84,623,000RGDNCBI36
Celera183,094,524 - 83,094,629RGD
HuRef182,960,368 - 82,960,473UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 4 1 3 1 1
Low 65 3 663 8 29 9 311 139 845 11 470 407 1 205
Below cutoff 1942 1748 776 333 1042 184 3260 1562 2629 239 790 985 154 923 2130 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000471089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl184,365,428 - 84,397,831 (-)Ensembl
RefSeq Acc Id: ENST00000483236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl184,367,661 - 84,384,801 (-)Ensembl
RefSeq Acc Id: ENST00000638373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl184,364,958 - 84,365,841 (-)Ensembl
RefSeq Acc Id: ENST00000638856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl184,364,389 - 84,381,891 (-)Ensembl
RefSeq Acc Id: ENST00000640983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl184,363,706 - 84,370,400 (-)Ensembl
RefSeq Acc Id: NR_003927
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38184,364,958 - 84,384,801 (-)NCBI
GRCh37184,830,641 - 84,863,576 (-)RGD
Build 36184,603,229 - 84,636,164 (-)NCBI Archive
Celera183,074,869 - 83,107,791 (-)RGD
HuRef182,940,714 - 82,973,588 (-)ENTREZGENE
CHM1_1184,945,478 - 84,965,322 (-)NCBI
T2T-CHM13v2.0184,205,437 - 84,225,268 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12575 AgrOrtholog
COSMIC UOX COSMIC
Ensembl Genes ENSG00000240520 Ensembl
GTEx ENSG00000240520 GTEx
HGNC ID HGNC:12575 ENTREZGENE
Human Proteome Map UOX Human Proteome Map
NCBI Gene 391051 ENTREZGENE
PharmGKB PA37208 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 UOX  urate oxidase (pseudogene)  UOX  urate oxidase, pseudogene  Symbol and/or name change 5135510 APPROVED
2011-07-27 UOX  urate oxidase, pseudogene  UOX  urate oxidase (pseudogene)  Symbol and/or name change 5135510 APPROVED