InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UROS

Summary

InnateDB Protein

IDBP-92871.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UROS

Protein Name

uroporphyrinogen III synthase

Synonyms

UROIIIS;

Species

Homo sapiens

Ensembl Protein

ENSP00000357775

InnateDB Gene

IDBG-92867 (UROS)

Protein Structure

UniProt Annotation

Function

Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).

Subcellular Localization

Disease Associations

Congenital erythropoietic porphyria (CEP) [MIM:263700]: Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. {ECO:0000269PubMed:11121156, ECO:0000269PubMed:12060141, ECO:0000269PubMed:15304101, ECO:0000269PubMed:1733834, ECO:0000269PubMed:1737856, ECO:0000269PubMed:21653323, ECO:0000269PubMed:22350154, ECO:0000269PubMed:2331520, ECO:0000269PubMed:7860775, ECO:0000269PubMed:8655129, ECO:0000269PubMed:9188670, ECO:0000269PubMed:9803266, ECO:0000269PubMed:9834209}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non- immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:11112350}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004852	uroporphyrinogen-III synthase activity

Biological Process

GO:0006778	porphyrin-containing compound metabolic process
GO:0006780	uroporphyrinogen III biosynthetic process
GO:0006782	protoporphyrinogen IX biosynthetic process
GO:0006783	heme biosynthetic process
GO:0033014	tetrapyrrole biosynthetic process
GO:0044281	small molecule metabolic process