UROS - uroporphyrinogen III synthase Gene

Homo sapiens

Also known as UROIIIS

Gene ID: 7390 | Gene type: protein coding

About UROS

Cytogenetic location: 10q26.2 Genomic coordinates (GRCh38): 10:125,784,980-125,823,258 (from NCBI)

This gene has 21 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.4) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

UROS Products(5)

mRNA	Protein	Name
NM_000375.3	NP_000366.1	uroporphyrinogen-III synthase isoform 2
NM_001324036.2	NP_001310965.1	uroporphyrinogen-III synthase isoform 1
NM_001324037.2	NP_001310966.1	uroporphyrinogen-III synthase isoform 3
NM_001324038.2	NP_001310967.1	uroporphyrinogen-III synthase isoform 4
NM_001324039.2	NP_001310968.1	uroporphyrinogen-III synthase isoform 5

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables uroporphyrinogen-III synthase activity	IDA IDA: Inferred from direct assay	3174619	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in heme biosynthetic process	IDA IDA: Inferred from direct assay	3805019	GOA
involved in uroporphyrinogen III biosynthetic process	IDA IDA: Inferred from direct assay	3174619	GOA

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

UROS Protein Structure

HEM4

0
100
200
265 a.a.

Protein Preferred Names

Protein Names

uroporphyrinogen-III synthase

hydroxymethylbilane hydrolyase

Recombinant UROS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71105	UROIIIS Protein, Human (His)	P10746 (M1-C265)	≥95%

Related Diseases

Diseases

Alias

Porphyria, Congenital Erythropoietic

Congenital Erythropoietic Porphyria	Gunther Disease
CEP	Uros Deficiency
Günther Disease	Uroporphyrinogen Iii Synthase Deficiency
Congenital Porphyria	Uroporphyrinogen Iii Synthase, Deficiency Of
Porphyria, Erythropoietic, Congenital	Porphyria, Erythropoietic
Deficiency Of Uroporphyrinogen Iii Synthase

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Cicatricial Ectropion

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Sclerosing Keratitis

Sclerokeratitis

Dubin-Johnson Syndrome

DJS	Chronic Idiopathic Jaundice
Jaundice, Chronic Idiopathic	Hyperbilirubinemia, Dubin-Johnson Type
Hyperbilirubinemia Ii	Hyperbilirubinemia Type 2
Conjugated Hyperbilirubinemia	Dubin-Sprinz Disease
Sprinz-Nelson Syndrome	Hblrdj
Dubin Johnson Syndrome	Hyperbilirubinemia 2
Black Liver-Jaundice Syndrome	Chronic Idiopathic Jaundice With Pigmented Liver
Dubin-Sprinz Syndrome	Hyperbilirubinaemia Type 2
Djs - [Dubin-Johnson Syndrome]

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Hypochromic Anemia	Anh1
Hereditary Iron-Loading Anemia	Anemia, Sideroblastic, X-Linked
Anemia, Hereditary Sideroblastic	Erythroid 5-Aminolevulinate Synthase Deficiency
Hereditary Sideroblastic Anemia	SIDBA1
Anemia, Hypochromic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Deep Keratitis

Coproporphyria, Hereditary

Hereditary Coproporphyria	Coproporphyria
Coproporphyrinogen Oxidase Deficiency	HCP
Cpo Deficiency	Cpox Deficiency
Cpx Deficiency	Hereditary Coproporphyria Porphyria
Cpro Deficiency	Coproporphyria Hereditary
Porphyria Hepatica Ii	Porphyria Hepatica Coproporphyria
Porphyria, Hereditary Coproporphyria	Harderoporphyria

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Alcoholic Neuropathy

Alcoholic Polyneuropathy	Alcohol-Related Polyneuropathy
Alcohol-Induced Polyneuropathy	Alcoholic Peripheral Neuropathy

Hypertrichosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15510	UROS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UROS	VGNC	VGNC:36702
Rattus norvegicus	UROS	RGD	RGD:1310396
Macaca mulatta	UROS	VGNC	VGNC:78731
Felis catus	UROS	VGNC	VGNC:66857
Mus musculus	UROS	MGD	MGI:98917
Canis familiaris	UROS	VGNC	VGNC:48170
Others	UROS	NCBI

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