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Uros Gene Detail
Summary
  • Symbol
    Uros
  • Name
    uroporphyrinogen III synthase
  • Synonyms
    hydroxymethylbilane hydrolyase (cyclizing), uroporphyrinogen-III synthase, Uros3, URO-synthase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98917
    NCBI Gene: 22276
Location & Maps
more
  • Sequence Map
    Chr7:133686243-133710072 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23830 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    UROS, uroporphyrinogen III synthase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    UROS, uroporphyrinogen III synthase
    Orthology source: HomoloGene
  • Synonyms
    UROIIIS
  • Links
    NCBI Gene ID: 7390
    neXtProt AC: NX_P10746

  • Chr Location
    10q25.2-q26.3; chr10:125784980-125823268 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Uros mouse models; 1 with human UROS associations

Human Disease Mouse Models
       Porphyria, Congenital Erythropoietic   OMIM: 263700 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 6 alleles in 3 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    254 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000017135 uroporphyrinogen-III synthase
  • EC
  • InterPro Domains
    IPR003754 Tetrapyrrole biosynthesis, uroporphyrinogen III synthase
Molecular
Reagents
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  • All nucleic 67
    cDNA 66
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-15374, MGI:2141932
References
more
  • Summaries
    All 45
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 7
    Phenotypes 11
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory