2. Gene
  3. Uros - uroporphyrinogen III synthase Gene

Uros - uroporphyrinogen III synthase Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Uros3; UROIIIS

Gene ID: 22276 | Gene type: protein coding

About Uros

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]

Uros Products(5)

mRNA Protein Name
NM_001302085.1 NP_001289014.1 uroporphyrinogen-III synthase isoform 1
NM_001302086.1 NP_001289015.1 uroporphyrinogen-III synthase isoform 2
NM_001302087.1 NP_001289016.1 uroporphyrinogen-III synthase isoform 1
NM_001360164.1 NP_001347093.1 uroporphyrinogen-III synthase isoform 1
NM_009479.3 NP_033505.1 uroporphyrinogen-III synthase isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables uroporphyrinogen-III synthase activity IDA
IDA: Inferred from direct assay
7607680 MGI
enables uroporphyrinogen-III synthase activity IMP
IMP: Inferred from mutant phenotype
16532394 MGI
Biological Process GO Annotation Evidence Reference Source
involved in heme A biosynthetic process IMP
IMP: Inferred from mutant phenotype
16532394 MGI
involved in heme B biosynthetic process IMP
IMP: Inferred from mutant phenotype
16532394 MGI
involved in heme O biosynthetic process IMP
IMP: Inferred from mutant phenotype
16532394 MGI
acts upstream of or within porphyrin-containing compound biosynthetic process IDA
IDA: Inferred from direct assay
7607680 MGI
Cellular Component GO Annotation Evidence Reference Source
is active in cytosol IDA
IDA: Inferred from direct assay
24145442 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

uroporphyrinogen-III synthase

URO-synthase

hydroxymethylbilane hydrolyase (cyclizing)

uroporphyrinogen-III cosynthase

uroporphyrinogen-III cosynthetase

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15510 UROS Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS19972 Uros Mouse Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS26475 Uros Rat Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Uros NCBI NCBI:7390