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 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; chr10:127477147-127511837 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human UROS

Alleles and phenotypes

All alleles(20) : Targeted(8) Gene trapped(12)
 

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)   

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)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	113

cDNA source data(65)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(66) cDNA(65) Primer pair(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000025682 (Evidence)
Ensembl Gene Model	ENSMUSG00000030979 (Evidence)
Entrez Gene	22276 (Evidence)
UniGene	3160
DFCI	TC1578525, TC1644023
DoTS	DT.101390749, DT.110990817, DT.87072222, DT.87072544, DT.91337008, DT.99842440
NIA Mouse Gene Index	U029374
EC	4.2.1.75
Consensus CDS Project	CCDS21934.1
International Mouse Knockout Project Status	Uros

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025682	VEGA Gene Model | MGI Sequence Detail	23830	C57BL/6J
transcript	OTTMUST00000063227	VEGA | MGI Sequence Detail	1483	Not Applicable
polypeptide	OTTMUSP00000031235	VEGA | MGI Sequence Detail	265	Not Applicable

All sequences(71) RefSeq(2) UniProt(8)

Polymorphisms

All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs(231 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:186500 Kaneko H, et al., N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program. J Biol Chem. 2012 Jun 15;287(25):21439-49
All references(47)

Other accession IDs

MGD-MRK-15374, MGI:2141932