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    Urod uroporphyrinogen decarboxylase [ Mus musculus (house mouse) ]

    Gene ID: 22275, updated on 30-Nov-2023

    Summary

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    Official Symbol
    Urodprovided by MGI
    Official Full Name
    uroporphyrinogen decarboxylaseprovided by MGI
    Primary source
    MGI:MGI:98916
    See related
    Ensembl:ENSMUSG00000028684 AllianceGenome:MGI:98916
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    UPD; Uro-d
    Summary
    This gene encodes an enzyme that catalyzes the conversion of uroporphyrinogen-III to coproporphyrinogen-III, an intermediate step in heme biosynthesis. Homozygous knockout mice for this gene exhibit embryonic lethality. [provided by RefSeq, Aug 2015]
    Expression
    Broad expression in liver E14.5 (RPKM 225.2), liver E14 (RPKM 197.6) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Urod in Genome Data Viewer
    Location:
    4 D1; 4 53.41 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_04 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (116847162..116851634, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (116989965..116994436, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene zinc finger SWIM-type containing 5 Neighboring gene predicted gene, 22092 Neighboring gene general transcription factor IIB pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116666946-116667171 Neighboring gene HECT domain E3 ubiquitin protein ligase 3 Neighboring gene tetraspanin 17 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Complex gene-chemical interactions: hepatic uroporphyria as a paradigm. Smith AG, et al. Chem Res Toxicol, 2010 Apr 19. PMID 20099833
    2. Longitudinal study of a mouse model of familial porphyria cutanea tarda. Arch DD, et al. Cell Mol Biol (Noisy-le-grand), 2009 Jul 1. PMID 19656451
    3. Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus. Franklin MR, et al. J Biochem Mol Toxicol, 2001. PMID 11835626
    4. Uroporphyria in the Cyp1a2-/- mouse. Phillips JD, et al. Blood Cells Mol Dis, 2011 Dec 15. PMID 21880518, Free PMC Article
    5. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Phillips JD, et al. Proc Natl Acad Sci U S A, 2007 Mar 20. PMID 17360334, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. accelerated development of uroporphyria in mice heterozygous for deletion at uroporphyrinogen locus
      Title: Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carboxy-lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ferrous iron binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables uroporphyrinogen decarboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uroporphyrinogen decarboxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables uroporphyrinogen decarboxylase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables uroporphyrinogen decarboxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in heme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme B biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme O biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within heme biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heme metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in porphyrin-containing compound biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in porphyrin-containing compound catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in porphyrin-containing compound metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in uroporphyrinogen III metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    uroporphyrinogen decarboxylase
    NP_033504.2
    XP_006502994.1
    XP_006502995.1
    XP_036019871.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001425864.1 → NP_001412793.1  uroporphyrinogen decarboxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL671671

    2. NM_001425865.1 → NP_001412794.1  uroporphyrinogen decarboxylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL671671

    3. NM_001425866.1 → NP_001412795.1  uroporphyrinogen decarboxylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL671671

    4. NM_001425867.1 → NP_001412796.1  uroporphyrinogen decarboxylase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL671671

    5. NM_001425868.1 → NP_001412797.1  uroporphyrinogen decarboxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL671671

    6. NM_001425869.1 → NP_001412798.1  uroporphyrinogen decarboxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL671671

    7. NM_001425870.1 → NP_001412799.1  uroporphyrinogen decarboxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL671671

    8. NM_001425871.1 → NP_001412800.1  uroporphyrinogen decarboxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL671671

    9. NM_001425872.1 → NP_001412801.1  uroporphyrinogen decarboxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL671671

    10. NM_001425873.1 → NP_001412802.1  uroporphyrinogen decarboxylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL671671

    11. NM_009478.5 → NP_033504.2  uroporphyrinogen decarboxylase isoform 1

      See identical proteins and their annotated locations for NP_033504.2

      Status: REVIEWED

      Source sequence(s)
      AL671671
      Consensus CDS
      CCDS18521.1
      UniProtKB/Swiss-Prot
      P70697, Q91VW4
      Related
      ENSMUSP00000030446.9, ENSMUST00000030446.15
      Conserved Domains (1) summary
      cd00717
      Location:20 → 359
      URO-D; Uroporphyrinogen decarboxylase (URO-D) is a dimeric cytosolic enzyme that decarboxylates the four acetate side chains of uroporphyrinogen III (uro-III) to create coproporphyrinogen III, without requiring any prosthetic groups or cofactors. This reaction ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2023_04

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      116847162..116851634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163978.1 → XP_036019871.1  uroporphyrinogen decarboxylase isoform X3

      Conserved Domains (1) summary
      cl00464
      Location:20 → 284
      URO-D_CIMS_like; The URO-D_CIMS_like protein superfamily includes bacterial and eukaryotic uroporphyrinogen decarboxylases (URO-D), coenzyme M methyltransferases and other putative bacterial methyltransferases, as well as cobalamine (B12) independent methionine synthases. ...

    2. XM_006502931.2 → XP_006502994.1  uroporphyrinogen decarboxylase isoform X1

      Conserved Domains (1) summary
      cd00717
      Location:20 → 338
      URO-D; Uroporphyrinogen decarboxylase (URO-D) is a dimeric cytosolic enzyme that decarboxylates the four acetate side chains of uroporphyrinogen III (uro-III) to create coproporphyrinogen III, without requiring any prosthetic groups or cofactors. This reaction ...

    3. XM_006502932.2 → XP_006502995.1  uroporphyrinogen decarboxylase isoform X2

      Conserved Domains (1) summary
      cd00717
      Location:20 → 305
      URO-D; Uroporphyrinogen decarboxylase (URO-D) is a dimeric cytosolic enzyme that decarboxylates the four acetate side chains of uroporphyrinogen III (uro-III) to create coproporphyrinogen III, without requiring any prosthetic groups or cofactors. This reaction ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P70697.2 GenPept UniProtKB/Swiss-Prot:P70697

    Gene LinkOut

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