UROS - uroporphyrinogen III synthase Gene

Also Known as UROIIIS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7390

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	Verweise	Source
enables uroporphyrinogen-III synthase activity	IDA IDA: Inferred from direct assay	3174619	GOA

Biological Process GO Annotation	Evidence	Verweise	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

Art. -Nr.	Produktname	Accession	Reinheit
HY-P71105	UROIIIS Protein, Human (His)	P10746 (M1-C265)	≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15510	UROS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19972	Uros Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25435	Hmbs Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26475	Uros Rat Pre-designed siRNA Set A	Pre-designed Set	/	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