Uroporphyrinogen III synthase

Uroporphyrinogen III synthase EC 4.2.1.75 is an enzyme involved in the metabolism of the cyclic tetrapyrrole compound porphyrin. It is involved in the conversion of hydroxymethyl bilane into uroporphyrinogen III. This enzyme catalyses the inversion of the final pyrrole unit (ring D) of the linear tetrapyrrole molecule, linking it to the first pyrrole unit (ring A), thereby generating a large macrocyclic structure, uroporphyrinogen III.[1] The enzyme folds into two alpha/beta domains connected by a beta-ladder, the active site being located between the two domains.[2]

Heme synthesis—note that some reactions occur in the cytoplasm and some in the mitochondrion (yellow)
Uroporphyrinogen-III synthase
Uroporphyrinogen-III synthase monomer, Thermus thermophilus
Identifiers
EC number4.2.1.75
CAS number37340-55-9
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Uroporphyrinogen III synthase
Identifiers
SymbolUROS
NCBI gene7390
HGNC12592
OMIM606938
RefSeqNM_000375
UniProtP10746
Other data
EC number4.2.1.75
LocusChr. 10 q25.2-26.3
Uroporphyrinogen-III synthase HemD
crystal structure of uroporphyrinogen iii synthase from an extremely thermophilic bacterium thermus thermophilus hb8 (wild type, native, form-2 crystal)
Identifiers
SymbolHEM4
PfamPF02602
InterProIPR003754
SCOP21jr2 / SCOPe / SUPFAM

Pathology

A deficiency is associated with Gunther's disease, also known as congenital erythropoietic porphyria (CEP). This is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase.[3]

References
  1. Raux E, Schubert HL, Warren MJ (December 2000). "Biosynthesis of cobalamin (vitamin B12): a bacterial conundrum". Cell. Mol. Life Sci. 57 (13–14): 1880–93. doi:10.1007/PL00000670. PMID 11215515. S2CID 583311.
  2. Mathews MA, Schubert HL, Whitby FG, Alexander KJ, Schadick K, Bergonia HA, Phillips JD, Hill CP (November 2001). "Crystal structure of human uroporphyrinogen III synthase". EMBO J. 20 (21): 5832–9. doi:10.1093/emboj/20.21.5832. PMC 125291. PMID 11689424.
  3. To-Figueras J, Badenas C, Mascaro JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C (2007). "Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria". Blood Cells Mol. Dis. 38 (3): 242–6. doi:10.1016/j.bcmd.2006.12.001. PMID 17270473.
This article incorporates text from the public domain Pfam and InterPro: IPR003754


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