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

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: human all
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Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Uros (e-PCR), detects polymorphism
- UniSTS:144736

AI415298 (e-PCR)
- UniSTS:179661

U16216 (e-PCR)
- UniSTS:159707

U18867 (e-PCR)
- UniSTS:125688

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables folic acid binding	IEA Inferred from Electronic Annotation more info
enables folic acid binding	ISO Inferred from Sequence Orthology 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 cellular response to amine stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to arsenic-containing substance	IEA Inferred from Electronic Annotation more info
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 protoporphyrinogen IX biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to platinum ion	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	IEA Inferred from Electronic Annotation 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 more info	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

EC 4.2.1.75

NP_001289015.1

EC 4.2.1.75

NP_001289016.1

EC 4.2.1.75

NP_001347093.1

EC 4.2.1.75

NP_033505.1

EC 4.2.1.75

XP_030098239.1

EC 4.2.1.75

XP_030098241.1

EC 4.2.1.75

XP_030098243.1

EC 4.2.1.75

XP_030098244.1

EC 4.2.1.75

XP_036008808.1

EC 4.2.1.75

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)

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 ...
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 ...
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 ...
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 ...
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

NR_153415.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC127348
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

133287871..133312176 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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 ...
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 ...