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    Uros uroporphyrinogen III synthase [ Mus musculus (house mouse) ]

    Gene ID: 22276, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Urosprovided by MGI
    Official Full Name
    uroporphyrinogen III synthaseprovided by MGI
    Primary source
    MGI:MGI:98917
    See related
    Ensembl:ENSMUSG00000030979 AllianceGenome:MGI:98917
    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
    Uros3; UROIIIS
    Summary
    The protein encoded by this gene is the fourth enzyme in the heme biosynthesis pathway. It converts hydroxymethylbilane to uroporphyrinogen III, a cyclic tetrapyrrole. This enzyme is defective in the autosomal recessive disorder congenital erythropoietic porphyria. Alternate promoter usage controls cell type-specific expression, including erythroid cell-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
    Expression
    Broad expression in liver E14.5 (RPKM 28.1), liver E14 (RPKM 26.9) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 F3; 7 77.26 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (133287871..133312176, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (133686142..133710467, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2851 Neighboring gene erythroid differentiation regulatory factor 1 Neighboring gene matrix metallopeptidase 21 Neighboring gene STARR-positive B cell enhancer ABC_E4982 Neighboring gene STARR-positive B cell enhancer ABC_E10481 Neighboring gene BRCA2 and CDKN1A interacting protein Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene predicted gene 15483 Neighboring gene STARR-seq mESC enhancer starr_20333 Neighboring gene fibronectin type 3 and ankyrin repeat domains 1

    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. Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria. Urquiza P, et al. Sci Transl Med, 2018 Sep 19. PMID 30232228
    2. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. Blouin JM, et al. Proc Natl Acad Sci U S A, 2013 Nov 5. PMID 24145442, Free PMC Article
    3. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Bishop DF, et al. Mol Med, 2011. PMID 21365124, Free PMC Article
    4. Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells. Robert-Richard E, et al. Am J Hum Genet, 2008 Jan. PMID 18179890, Free PMC Article
    5. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Bishop DF, et al. Am J Hum Genet, 2006 Apr. PMID 16532394, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that in adult UROS C73R mice, spleen and liver weights were 8.2- and 1.5-fold increased, respectively.
      Title: Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (7)  1 citation
    • Endonuclease-mediated (1) 

    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 folic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables uroporphyrinogen-III synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uroporphyrinogen-III synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables uroporphyrinogen-III synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    contributes_to uroporphyrinogen-III synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables uroporphyrinogen-III synthase 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within porphyrin-containing compound biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within porphyrin-containing compound biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		  
    involved_in tetrapyrrole biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in uroporphyrinogen III biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in uroporphyrinogen III biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    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 mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    uroporphyrinogen-III synthase
    Names
    URO-synthase
    hydroxymethylbilane hydrolyase (cyclizing)
    uroporphyrinogen-III cosynthase
    uroporphyrinogen-III cosynthetase
    NP_001289014.1
    NP_001289015.1
    NP_001289016.1
    NP_001347093.1
    NP_033505.1
    XP_030098239.1
    XP_030098241.1
    XP_030098243.1
    XP_030098244.1
    XP_036008808.1

    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_001302085.1 → NP_001289014.1  uroporphyrinogen-III synthase isoform 1

      See identical proteins and their annotated locations for NP_001289014.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC127348, AI839008, AK145902, AK148116, BC068161
      Consensus CDS
      CCDS21934.1
      UniProtKB/Swiss-Prot
      P51163
      UniProtKB/TrEMBL
      Q3UG55, Q3UKR3
      Related
      ENSMUSP00000101751.4, ENSMUST00000106145.10
      Conserved Domains (1) summary
      cd06578
      Location:3 → 255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    2. NM_001302086.1 → NP_001289015.1  uroporphyrinogen-III synthase isoform 2

      See identical proteins and their annotated locations for NP_001289015.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1, lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC127348, AK148116, AK164297, CO044764
      Consensus CDS
      CCDS80823.1
      UniProtKB/TrEMBL
      Q3TPL3
      Related
      ENSMUSP00000101750.2, ENSMUST00000106144.8
      Conserved Domains (1) summary
      cd06578
      Location:3 → 137
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    3. NM_001302087.1 → NP_001289016.1  uroporphyrinogen-III synthase isoform 1

      See identical proteins and their annotated locations for NP_001289016.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and represents use of an alternate promoter compared to variant 1. Variants 1, 2, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AA272198, AI839008, AK148116
      Consensus CDS
      CCDS21934.1
      UniProtKB/Swiss-Prot
      P51163
      UniProtKB/TrEMBL
      Q3UG55, Q3UKR3
      Related
      ENSMUSP00000101752.2, ENSMUST00000106146.8
      Conserved Domains (1) summary
      cd06578
      Location:3 → 255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    4. NM_001360164.1 → NP_001347093.1  uroporphyrinogen-III synthase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 2, and 4, encodes isoform 1.
      Source sequence(s)
      AC127348
      Consensus CDS
      CCDS21934.1
      UniProtKB/Swiss-Prot
      P51163
      UniProtKB/TrEMBL
      Q3UG55, Q3UKR3
      Conserved Domains (1) summary
      cd06578
      Location:3 → 255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    5. NM_009479.3 → NP_033505.1  uroporphyrinogen-III synthase isoform 1

      See identical proteins and their annotated locations for NP_033505.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC127348, AI839008, AK148116
      Consensus CDS
      CCDS21934.1
      UniProtKB/Swiss-Prot
      P51163
      UniProtKB/TrEMBL
      Q3UG55, Q3UKR3
      Related
      ENSMUSP00000033276.5, ENSMUST00000033276.11
      Conserved Domains (1) summary
      cd06578
      Location:3 → 255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    RNA

    1. NR_153415.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC127348

    2. NR_153416.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC127348

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      133287871..133312176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242379.1 → XP_030098239.1  uroporphyrinogen-III synthase isoform X1

      UniProtKB/TrEMBL
      Q3UKR3
      Conserved Domains (1) summary
      cd06578
      Location:3 → 228
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    2. XM_030242381.2 → XP_030098241.1  uroporphyrinogen-III synthase isoform X1

      UniProtKB/TrEMBL
      Q3UKR3
      Conserved Domains (1) summary
      cd06578
      Location:3 → 228
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    3. XM_036152915.1 → XP_036008808.1  uroporphyrinogen-III synthase isoform X1

      UniProtKB/TrEMBL
      Q3UKR3
      Conserved Domains (1) summary
      cd06578
      Location:3 → 228
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    4. XM_030242383.1 → XP_030098243.1  uroporphyrinogen-III synthase isoform X2

      UniProtKB/TrEMBL
      Q3TPL3
      Conserved Domains (1) summary
      cd06578
      Location:3 → 137
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    5. XM_030242384.2 → XP_030098244.1  uroporphyrinogen-III synthase isoform X2

      UniProtKB/TrEMBL
      Q3TPL3
      Conserved Domains (1) summary
      cd06578
      Location:3 → 137
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    RNA

    1. XR_004934058.1 RNA Sequence

    2. XR_003946436.1 RNA Sequence

    3. XR_004934059.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51163.1 GenPept UniProtKB/Swiss-Prot:P51163

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