UROD - uroporphyrinogen decarboxylase Gene

Also Known as PCT; UPD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7389

About UROD

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:45,012,254-45,015,575 (from NCBI)

This gene has 27 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 73.9), adrenal (RPKM 43.0) and 25 other tissues.

Summary

This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]

UROD Products (1)

mRNA	Protein	Name
NM_000374.5	NP_000365.3	uroporphyrinogen decarboxylase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables uroporphyrinogen decarboxylase activity	IDA IDA: Inferred from direct assay	11069625	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in porphyrin-containing compound catabolic process	IDA IDA: Inferred from direct assay	11069625	GOA
involved in porphyrin-containing compound metabolic process	IDA IDA: Inferred from direct assay	12071824	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

UROD Protein Structure

URO-D

0
100
200
300
367 a.a.

Protein Preferred Names	Protein Names
uroporphyrinogen decarboxylase	uroporphyrinogen III decarboxylase

UROD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UROD	P06132	PHKA2	Homo sapiens	P46019	Validated Y2H	32296183
Intra	UROD	P06132	PHKA2	Homo sapiens	P46019	Y2H Array	32296183
Intra	UROD	P06132	PHKA2	Homo sapiens	P46019	Y2H Prey Pooling	32296183
Intra	UROD	P06132	TSSK3	Homo sapiens	Q96PN8	Validated Y2H	32296183
Intra	UROD	P06132	POTEF	Homo sapiens	A5A3E0	Anti Tag CoIP	33961781
Intra	UROD	P06132	POTEF	Homo sapiens	A5A3E0	Anti Tag CoIP	28514442
Intra	UROD	P06132	LRATD2	Homo sapiens	Q96KN1	Validated Y2H	25416956
Intra	UROD	P06132	LRATD2	Homo sapiens	Q96KN1	Y2H Prey Pooling	32296183
Intra	UROD	P06132	LRATD2	Homo sapiens	Q96KN1	Validated Y2H	32296183
Intra	UROD	P06132	LRATD2	Homo sapiens	Q96KN1	Y2H Array	25416956
Intra	UROD	P06132	LRATD2	Homo sapiens	Q96KN1	Y2H Array	32296183
Intra	UROD	P06132	LRATD2	Homo sapiens	Q96KN1	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UROD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71080	UROD Protein, Human (His)	P06132 (M1-N367)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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]
Familial Porphyria Cutanea Tarda	Familial Pct F-Pct Porphyria Cutanea Tarda, Type Ii Type Ii Pct Urod-Related Porphyria Cutanea Tarda Porphyria Cutanea Tarda Type Ii Porphyria Cutanea Tarda, Familial Type Porphyria Cutanea Tarda
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
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Porphyria Cutanea Tarda, Type I	Sporadic Porphyria Cutanea Tarda Pct, Type I Pct, 'Sporadic' Type Porphyria Cutanea Tarda Type I Porphyria Cutanea Tarda, Sporadic Type
Siderosis	Pulmonary Siderosis Deposition Of Iron Arc-Welders' Disease Arc-Welders' Lung Arc-Welders' Nodulation Arc-Welders' Pneumoconiosis Iron Oxide Lung Iron Pneumoconiosis Pneumoconiosis Siderotico Siderotic Lung Disease Steel Grinders' Disease Welders' Lung Welders' Siderosis Lung Fibrosis With Siderosis
Acute Porphyria	Porphyrias, Hepatic Hepatic Porphyria Porphyria Hepatic Acute Intermittent Porphyria
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]
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
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Hypertrichosis
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Cicatricial Ectropion
Photoparoxysmal Response 1	Photosensitivity Disease Photodermatitis Photosensitivity Disorders PPR1 Ppr Photosensitivity Photoconvulsive Reaction Epilepsy, Photogenic Photosensitivity Of Skin Dermatitis, Phototoxic
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
Scleromalacia Perforans
Mulchandani-Bhoj-Conlin Syndrome	MBCS Maternal Uniparental Disomy Of Chromosome 20 Maternal Upd(20) Upd(20)Mat Uniparental Disomy, Maternal, Chromosome 20
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Acute Hemorrhagic Pancreatitis	Pancreatitis, Acute Hemorrhagic
Spondylolysis	Acquired Spondylolysis
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15509	UROD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21453	Urod Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27971	Urod Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	UROD	VGNC	VGNC:66856
Mus musculus	UROD	MGD	MGI:98916
Canis familiaris	UROD	VGNC	VGNC:48169
Macaca mulatta	UROD	VGNC	VGNC:78730
Bos taurus	UROD	VGNC	VGNC:36701
Rattus norvegicus	UROD	RGD	RGD:3946
Others	UROD	NCBI