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Uros
Gene Detail
Symbol

Name
ID
Uros
uroporphyrinogen III synthase
MGI:98917
Synonyms
hydroxymethylbilane hydrolyase (cyclizing), uroporphyrinogen-III synthase, Uros3, URO-synthase
Feature Type
protein coding gene
Genetic Map
Chromosome 7
77.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr7:133686243-133710072 bp, - strand
From VEGA annotation of GRCm38

  23830 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37296  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: uroporphyrinogen-III synthase
Gene Tree: Uros

Human
homologs
Human Homolog UROS, uroporphyrinogen III synthase
NCBI Gene ID 7390
neXtProt AC  NX_P10746
Human Synonyms  UROIIIS
Human Chr (Location)  10q25.2-q26.3; chr10:125785522-125823268 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human UROS
Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Gene trapped(12) Targeted(8)
 
Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity.
 
Human Diseases Modeled Using Mouse Uros (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Uros interacts with 105 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process heme biosynthetic process, porphyrin-containing compound biosynthetic process, ...
Component cytosol, mitochondrion
Function cofactor binding, lyase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (113)    Tissues (95)    Images (30)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 113
cDNA source data(66)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(67) cDNA(66) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000025682 (Evidence)
Ensembl Gene ModelENSMUSG00000030979 (Evidence)
Entrez Gene22276 (Evidence)
UniGene3160
DFCITC1578525, TC1644023
DoTSDT.101390749, DT.110990817, DT.87072222, DT.87072544, DT.91337008, DT.99842440
NIA Mouse Gene IndexU029374
EC4.2.1.75
Consensus CDS ProjectCCDS21934.1
International Mouse Knockout Project StatusUros
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025682 VEGA Gene Model | MGI Sequence Detail 23830 C57BL/6J ±  kb
transcript OTTMUST00000063227 VEGA | MGI Sequence Detail 1483 Not Applicable 
polypeptide OTTMUSP00000031235 VEGA | MGI Sequence Detail 265 Not Applicable 

For the selected sequences
All sequences(92) RefSeq(13) UniProt(15)
Polymorphisms
All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs within 2kb(254 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003754 Tetrapyrrole biosynthesis, uroporphyrinogen III synthase
Protein Ontology PR:000017135 uroporphyrinogen-III synthase
References
(Earliest) J:21509 Bensidhoum M, et al., The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7. Mamm Genome. 1994 Nov;5(11):728-30
(Latest) J:202914 Blouin JM, et al., Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18238-43
All references(49)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-15374, MGI:2141932

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory