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

Gene ID: 22276, updated on 1-Mar-2024

Summary

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
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Genomic context

See Uros in Genome Data Viewer
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

Expression

  • 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

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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_001302085.1NP_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:3255
    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_001302086.1NP_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:3137
    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_001302087.1NP_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:3255
    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_001360164.1NP_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:3255
    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_009479.3NP_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:3255
    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_030242379.1XP_030098239.1  uroporphyrinogen-III synthase isoform X1

    UniProtKB/TrEMBL
    Q3UKR3
    Conserved Domains (1) summary
    cd06578
    Location:3228
    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_030242381.2XP_030098241.1  uroporphyrinogen-III synthase isoform X1

    UniProtKB/TrEMBL
    Q3UKR3
    Conserved Domains (1) summary
    cd06578
    Location:3228
    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_036152915.1XP_036008808.1  uroporphyrinogen-III synthase isoform X1

    UniProtKB/TrEMBL
    Q3UKR3
    Conserved Domains (1) summary
    cd06578
    Location:3228
    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_030242383.1XP_030098243.1  uroporphyrinogen-III synthase isoform X2

    UniProtKB/TrEMBL
    Q3TPL3
    Conserved Domains (1) summary
    cd06578
    Location:3137
    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_030242384.2XP_030098244.1  uroporphyrinogen-III synthase isoform X2

    UniProtKB/TrEMBL
    Q3TPL3
    Conserved Domains (1) summary
    cd06578
    Location:3137
    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