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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:133287972-133311801 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 77.26 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    775 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98917
 protein coding gene Chr7:133287871-133312176 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033123
 protein coding gene Chr7:138443177-138467695 (-)
A/J MGP_AJ_G0033105
 protein coding gene Chr7:134606625-134629468 (-)
AKR/J MGP_AKRJ_G0033037
 protein coding gene Chr7:138208549-138235342 (-)
BALB/cJ MGP_BALBcJ_G0033106
 protein coding gene Chr7:134316494-134340495 (-)
C3H/HeJ MGP_C3HHeJ_G0032820
 protein coding gene Chr7:138046314-138071286 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033617
 protein coding gene Chr7:143696560-143720685 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030588
 protein coding gene Chr7:135877456-135899582 (-)
CAST/EiJ MGP_CASTEiJ_G0032150
 protein coding gene Chr7:129959677-129983281 (-)
CBA/J MGP_CBAJ_G0032793
 protein coding gene Chr7:148559356-148582215 (-)
DBA/2J MGP_DBA2J_G0032945
 protein coding gene Chr7:132623123-132646436 (-)
FVB/NJ MGP_FVBNJ_G0032898
 protein coding gene Chr7:132462883-132488469 (-)
LP/J MGP_LPJ_G0033039
 protein coding gene Chr7:139960966-139985911 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032930
 protein coding gene Chr7:149451240-149477912 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033637
 protein coding gene Chr7:137216221-137242225 (-)
PWK/PhJ MGP_PWKPhJ_G0031856
 protein coding gene Chr7:125644089-125666857 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031702
 protein coding gene Chr7:123988302-124017215 (-)
WSB/EiJ MGP_WSBEiJ_G0032261
 protein coding gene Chr7:138096953-138120868 (-)



Homology
more
  • Human Ortholog
    UROS, uroporphyrinogen III synthase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UROS, uroporphyrinogen III synthase
  • Synonyms
    UROIIIS
  • Links
    NCBI Gene ID: 7390
    neXtProt AC: NX_P10746
    UniProt: P10746

  • Chr Location
    10q26.2; chr10:125784980-125823288 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Uros mouse models; 1 with human UROS associations

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    35 phenotypes from 6 alleles in 3 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    30
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    821
  • Tissues
    95
  • cDNA Data
    67
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030979 Ensembl Gene Model | MGI Sequence Detail 23830 C57BL/6J ±  kb
    transcript ENSMUST00000106146 Ensembl | MGI Sequence Detail 1483 Not Applicable  
    polypeptide ENSMUSP00000101752 Ensembl | MGI Sequence Detail 265 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      cDNA 67
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15374, MGI:2141932
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 11
      Phenotypes 16
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory