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Urod Gene Detail
Summary
  • Symbol
    Urod
  • Name
    uroporphyrinogen decarboxylase
  • Synonyms
    Uro-d
  • Feature Type
    protein coding gene
  • IDs
    MGI:98916
    NCBI Gene: 22275
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:116847161-116851561 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.41 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    124 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98916
 protein coding gene Chr4:116847161-116851610 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028639
 protein coding gene Chr4:117937080-117942916 (-)
A/J MGP_AJ_G0028600
 protein coding gene Chr4:113393428-113397852 (-)
AKR/J MGP_AKRJ_G0028550
 protein coding gene Chr4:115868604-115874952 (-)
BALB/cJ MGP_BALBcJ_G0028621
 protein coding gene Chr4:114023423-114027838 (-)
C3H/HeJ MGP_C3HHeJ_G0028335
 protein coding gene Chr4:117432872-117437267 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029062
 protein coding gene Chr4:122482370-122486790 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026346
 protein coding gene Chr4:107440547-107445260 (-)
CAST/EiJ MGP_CASTEiJ_G0027769
 protein coding gene Chr4:114652352-114656736 (-)
CBA/J MGP_CBAJ_G0028302
 protein coding gene Chr4:125829536-125836642 (-)
DBA/2J MGP_DBA2J_G0028450
 protein coding gene Chr4:114029829-114034296 (-)
FVB/NJ MGP_FVBNJ_G0028418
 protein coding gene Chr4:112532814-112537187 (-)
LP/J MGP_LPJ_G0028552
 protein coding gene Chr4:118118741-118124145 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028445
 protein coding gene Chr4:130785271-130790730 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029099
 protein coding gene Chr4:117017082-117021929 (-)
PWK/PhJ MGP_PWKPhJ_G0027495
 protein coding gene Chr4:110815816-110820313 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027318
 protein coding gene Chr4:113307553-113313402 (-)
WSB/EiJ MGP_WSBEiJ_G0027848
 protein coding gene Chr4:116886313-116890574 (-)



Homology
more
  • Human Ortholog
    UROD, uroporphyrinogen decarboxylase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UROD, uroporphyrinogen decarboxylase
  • Synonyms
    PCT, UPD
  • Links
    NCBI Gene ID: 7389
    neXtProt AC: NX_P06132
    UniProt: P06132

  • Chr Location
    1p34.1; chr1:45010950-45015575 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human UROD associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    12 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.
Homozygous inactivation of this loci results in embryonic lethality. Though heterozygous mutant mice are overtly normal, they are susceptible to hepatic iron loading and porphyria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    10
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
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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
    895
  • Tissues
    103
  • cDNA Data
    124
  • Literature Summary
    5
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 22275 NCBI Gene Model | MGI Sequence Detail 4401 C57BL/6J ±  kb
transcript NM_009478 RefSeq | MGI Sequence Detail 1441 C57BL/6  
polypeptide P70697 UniProt | EBI | MGI Sequence Detail 367 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 127
    Genomic 1
    cDNA 125
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-15372, MGI:2140235
References
more
  • Summaries
    All 48
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 10
    Phenotypes 12
  • Earliest
    J:14642 Romana M, et al., Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase. Nucleic Acids Res. 1987 Sep 11;15(17):7211
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory