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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UROD Gene

protein-coding GIFtS: 66
GCID: GC01P045477

uroporphyrinogen decarboxylase

Explore 40 diseases affiliated with
UROD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Uroporphyrinogen Decarboxylase¹ ²
UPD² ³
EC 4.1.1.37³ ⁸
PCT²
Uroporphyrinogen III Decarboxylase²
URO-D³

External Ids:	HGNC: 12591¹	Entrez Gene: 7389²	Ensembl: ENSG00000126088⁷	OMIM: 613521⁵	UniProtKB: P06132³

ORGUL members:
	NONCODE:n410071

Export aliases for UROD gene to outside databases

Previous GC identifers: GC01P045205 GC01P044478 GC01P044907 GC01P044891 GC01P045147 GC01P045250 GC01P043589

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UROD:

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)

UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132

Function: Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III

Gene Wiki entry for UROD (Uroporphyrinogen III decarboxylase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UROD gene promoter:
AhR Pbx1a FOXD3 AP-4 Nkx2-5 CUTL1 Tal-1beta E47 Arnt USF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UROD promoter sequence

Search SABiosciences Chromatin IP Primers for UROD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UROD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34 Ensembl cytogenetic band: 1p34.1 HGNC cytogenetic band: 1p34

UROD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UROD gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P045477: view genomic region (about GC identifiers)

Start:	45,477,805 bp from pter	End:	45,481,341 bp from pter
Size:	3,537 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132 (See protein sequence)

Recommended Name: Uroporphyrinogen decarboxylase

Size: 367 amino acids; 40787 Da

Subunit: Homodimer

Subcellular location: Cytoplasm

6/19 PDB 3D structures from and Proteopedia for UROD (see all 19):

1JPH (3D)

1JPI (3D)

1JPK (3D)

1R3Q (3D)

1R3R (3D)

1R3S (3D)

Secondary accessions: A8K762 Q16863 Q16883 Q53YB8 Q53ZP6 Q6IB28 Q9BUZ0

Explore the universe of human proteins at neXtProt for UROD: NX_P06132

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P06132

4/14 DME Specific Peptides for UROD (P06132) (see all 14)

RVPLIGF

TLQPLRR

PLIGFAG

QVVAGAQ

UROD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000365.3

ENSEMBL proteins:

ENSP00000246337 ENSP00000404489 ENSP00000400253

Reactome Protein details: P06132
Human Recombinant Protein Products for UROD:

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	ProSpec Recombinant Protein for UROD
	Uscn Proteins for UROD

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0015630	microtubule cytoskeleton	IDA	--

UROD for ontologies About GeneDecksing

UROD Antibody Products:

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	Uscn ELISAs and CLIAs for UROD

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UROD for domains About GeneDecksing

2 InterPro domains/families:

IPR006361 Uroporphyrinogen_deCO2ase_HemE

IPR000257 Uroporphyrinogen_deCOase

Graphical View of Domain Structure for InterPro Entry P06132

ProtoNet protein and cluster: P06132

1 Blocks protein family: IPB000257 Uroporphyrinogen decarboxylase (URO-D)

UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132

Similarity: Belongs to the uroporphyrinogen decarboxylase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DCUP_HUMAN, P06132

Function: Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III

Catalytic activity: Uroporphyrinogen III = coproporphyrinogen + 4 CO(2)

Genatlas biochemistry entry for UROD:

uroporphyrinogen decarboxylase,cytosolic,catalyzing coproporphyrinogen IX formation,fifth step of porphyrin synthesis

Enzyme Number (IUBMB): EC 4.1.1.37¹ ²

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004853	uroporphyrinogen decarboxylase activity	TAS	--
GO:0008198	ferrous iron binding	--	--

UROD for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for UROD:

Decreased melanin production

Increased Salmonella enterica

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Urod):

homeostasis/metabolism

liver/biliary system

mortality/aging

normal

UROD for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Urod^tm1Kush for UROD

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UROD

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UROD
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate UROD:
		hsa-miR-3679-5p hsa-miR-875-3p hsa-miR-1185
		SwitchGear 3'UTR luciferase reporter plasmid: UROD 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UROD (see all 7) OriGene shRNA RFP: UROD OriGene siRNA: UROD
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROD

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

heme biosynthesis II

	Heme Biosynthesis	0.78			Metabolism of porphyrins	0.50
	Heme biosynthesis	0.78

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Glucuronidation

Porphyrin and chlorophyll metabolism

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for UROD

Heme Biosynthesis

3 Reactome Pathways for UROD

	Metabolism of porphyrins
	Heme biosynthesis
	Metabolism

2 Kegg Pathways (Kegg details for UROD):

	Porphyrin and chlorophyll metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132

Pathway: Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4

UROD for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for UROD

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/35 Interacting proteins for UROD (P06132^{2, 3} ENSP00000246337⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHD3	Q12873²^,³	MINT-8276894 I2D: score=2
FAF1	Q9UNN5²^,³	MINT-8276905 I2D: score=2
VIM	P08670²^,³	MINT-8276927 I2D: score=2
HMGXB4	Q9UGU5²^,³, ENSP00000216106⁴	MINT-8276916 I2D: score=2 STRING: ENSP00000216106
EIF3B	P55884³, ENSP00000354125⁴	I2D: score=3 STRING: ENSP00000354125

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	--	--
GO:0006778	porphyrin-containing compound metabolic process	TAS	--
GO:0006779	porphyrin-containing compound biosynthetic process	--	--
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	--
GO:0006783	heme biosynthetic process	TAS	--

UROD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

UROD for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UROD

10/15 HMDB Compounds for UROD (see all 15) About this table

Compound	Synonyms	CAS #	PubMed Ids
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Coproporphyrin III		14643-66-4	--
Coproporphyrinogen I	3,8,13,18-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoate (see all 2)	31110-56-2	--
Coproporphyrinogen III	3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate (see all 9)	2624-63-7	--
Formyl-CoA	Formyl coenzyme A	13131-49-2	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Heptacarboxylporphyrin I	Heptacarboxylic acid porphyrin I (see all 2)	65406-45-3	--
Heptacarboxylporphyrin III	Heptacarboxylic acid prophyrin III (see all 2)	--	--
Hexacarboxylporphyrin I	Hexacarboxylic acid prophyrin I (see all 2)	73913-56-1	--
Hexacarboxylporphyrin III	Hexacarboxylic acid porphyrin III (see all 2)	--	--

2 DrugBank Compounds for UROD About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Coproporphyrin I	--	--	target	--	17139284 17016423
Coproporphyrin Iii	--	--	target	--	17139284 17016423

10/30 Novoseek chemical compound relationships for UROD gene (see all 30) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
uroporphyrinogen-iii	94.6	31	11524417 (3), 16853337 (2), 8661721 (1), 11836252 (1) (see all 20)
uroporphyrin	94.3	15	7566304 (2), 9462661 (1), 2238708 (1), 12297827 (1) (see all 12)
uroporphyrin i	89.3	6	1669450 (3), 11836252 (1), 2319333 (1)
uroporphyrinogen i	88.3	4	8980654 (1), 1550266 (1)
porphobilinogen	85.2	12	11836252 (1), 7616649 (1), 7586564 (1), 8949908 (1) (see all 9)
porphyrin	84.1	21	11155151 (2), 15491440 (2), 9462661 (1), 15761419 (1) (see all 16)
hydroxymethylbilane	80	8	7962538 (1), 18004775 (1), 2289050 (1), 12699245 (1)
5-aminolevulinic acid	76.5	15	2319333 (2), 9026352 (2), 2276414 (1), 19289130 (1) (see all 10)
protoporphyrinogen	72	5	19289130 (1), 12699245 (1)
porphyrinogen	71.7	1	16084099 (1)

Search CenterWatch for drugs/clinical trials and news about UROD / DCUP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for UROD gene:

NM_000374.4

Unigene Cluster for UROD:

Uroporphyrinogen decarboxylase

Hs.78601 [show with all ESTs]

Unigene Representative Sequence: BX647308

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000246337(uc001cnb.2 uc001cna.2) ENST00000491773 ENST00000463092(uc010oli.2)

ENST00000461035 ENST00000491300 ENST00000434478 ENST00000494399(uc010olj.1)

ENST00000460334 ENST00000462688 ENST00000490385 ENST00000460906 ENST00000469548

ENST00000486699 ENST00000478467 ENST00000428106 ENST00000496439 ENST00000473012

ENST00000472254

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UROD
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate UROD:
		hsa-miR-3679-5p hsa-miR-875-3p hsa-miR-1185
		SwitchGear 3'UTR luciferase reporter plasmid: UROD 3' UTR sequence

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UROD
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UROD

Additional cDNA sequence:

AF104421.1 AF104422.1 AF104423.1 AF104424.1 AF104425.1 AF104426.1 AF104427.1 AF104428.1

AF104429.1 AF104430.1 AF104431.1 AF104432.1 AF104433.1 AF104434.1 AF104435.1 AF104436.1

AF104437.1 AF104438.1 AF104439.1 AF104440.1 AK225053.1 AK291877.1 AK293702.1 AK295284.1

AK308996.1 AK309446.1 AK309724.1 AK310208.1 AK315878.1 BC001778.1 BT006737.1 BX647308.1

CR456976.1 CR542057.1 M14016.1 NR_036510.1

24/46 DOTS entries (see all 46):

DT.92461528 DT.87006867 DT.100853950 DT.449721 DT.95178633 DT.100853948 DT.121425997 DT.95178632

DT.121425934 DT.92461544 DT.100033938 DT.95178642 DT.100853938 DT.121425850 DT.121425974 DT.121426010

DT.40282025 DT.95178635 DT.100853951 DT.121425730 DT.92461556 DT.121425921 DT.100853942 DT.121425907

24/702 AceView cDNA sequences (see all 702):

BM471622 BU506870 CB154575 CA449144 CD368597 CA416419 BM782013 BQ680118

BU732946 CB158448 BQ020766 BC001778 AA779264 AI800269 BI831772 BG286511

BI869703 AI927593 CA454374 BQ941628 BU629784 BF840072 BU662830 AI669963

GeneLoc Exon Structure

5/29 Alternative Splicing Database (ASD) splice patterns (SP) for UROD (see all 29) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	·	2g	^	3	^	4a	·	4b	·	4c	·	4d	·	4e	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	·
SP1:															-		-		-		-		-								-						-		-		-
SP2:															-		-		-		-		-								-		-		-		-		-		-
SP3:															-		-														-						-		-		-
SP4:																															-						-		-		-
SP5:																																					-		-		-

ExUns:	6d	·	6e	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	^	11a	·	11b	^	12a	·	12b	·	12c	·	12d
SP1:			-								-																		-
SP2:			-								-
SP3:			-								-
SP4:			-								-
SP5:			-								-

ECgene alternative splicing isoforms for UROD

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UROD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGGCGCCTT

About this image

UROD expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See UROD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UROD

SOURCE GeneReport for Unigene cluster: Hs.78601

SABiosciences Custom PCR Arrays for UROD

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UROD Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROD

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for UROD gene from 10/37 species (see all 37) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Urod^{1 , 5}	uroporphyrinogen decarboxylase^{1, 5}	88.92(n)¹ 92.92(a)¹		4 (53.41 cM)⁵ 22275¹ NM_009478.3¹ NP_033504.2¹ 116989965⁵
chicken (Gallus gallus)	Aves	UROD¹	uroporphyrinogen decarboxylase	71.2(n) 76.67(a)		424590 XM_422430.3 XP_422430.3
lizard (Anolis carolinensis)	Reptilia	UROD⁶	--	75(a)	1 ↔ 1	4(110599815-110611784)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15429²	Xenopus laevis transcribed sequence with moderate similarity more	76.51(n)		BU907477.1
zebrafish (Danio rerio)	Actinopterygii	urod²	uroporphyrinogen decarboxylase	75.53(n)		30617 AF095639.1
fruit fly (Drosophila melanogaster)	Insecta	Updo^{1 , 3}	uroporphyrinogen decarboxylase³ CG1818-PA¹	54(a)³ 56.95(n)¹ 54.57(a)¹		45F5³ 35986¹ NM_001144155.1¹ NP_001137627.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	HEM12(YDR047W)⁴ HEM12¹	Uroporphyrinogen decarboxylase, catalyzes the fifth more⁴ Hem12p¹	53.96(n)¹ 53.01(a)¹		4(551860-552948)⁴ 851617^{1, 4} NP_010332.3¹ NP_010332.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	HEME2⁶ HEME1⁶	uroporphyrinogen decarboxylase 1	29(a) 26(a)	possible ortholog possible ortholog	2(16912845-16915177) 3(5020570-5022959)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	uroporphyrinogen decarboxylase, putative, expresse... uroporphyrinogen decarboxylase, putative, expresse... (see all 3)	28(a) 28(a) (see all 3)	possible ortholog possible ortholog (see all 3)	3(12527783-12531416) 1(24822953-24827119)
E. coli (Escherichia coli)	Gamma proteobacteria	hemE⁶	uroporphyrinogen decarboxylase	46(a)	1 ↔ 1	Chromosome(4195739-4196803)

ENSEMBL Gene Tree for UROD (if available)
TreeFam Gene Tree for UROD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918057^1,2	C	pathogenic	54312739(+)	`GGTTGA/G/TGCTTG`	5	E G V	nc-transcript-variantmis¹		0	--	--	--	--
rs72887057^1,2	C	--	43589178(+)	`CTTATC/GTCTGT`	2	--	us2k¹		2		WA	120
rs7415602^1,2	C	--	43589276(+)	`TATCTC/GTACTG`	2	--	us2k¹		0	--	--	--	--
rs72887059^1,2	C	--	43589301(+)	`CAAGTC/TACCAT`	2	--	us2k¹		2		WA	120
rs884581^1,2	C,F	--	43589705(-)	`CAGTCT/CGGGTA`	2	--	us2k¹		1		NA	120
rs12084469^1,2	C	--	43589706(+)	`ACCCAG/AACTGT`	2	--	us2k¹		2		WA	120
rs112059352^1,2		--	43589758(+)	`ACAGCG/AGAGTT`	2	--	us2k¹		2		CSA WA	120
rs885843^1,2	C	--	43589785(+)	`TTGTTG/TCGTCG`	2	--	us2k¹ tfbs³		2		NA	4
rs7536892^1,2	C,F,H	--	43589864(+)	`GTCGCT/GGGAGT`	2	--	us2k¹		8		NS NA WA	914
rs113281901^1,2	C	--	43590636(+)	`ATCGCG/CAGACC`	2	--	nc-transcript-variantint¹		1		CSA	1

HapMap Linkage Disequilibrium report for UROD (45477805 - 45481341 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UROD: --
Human Gene Mutation Database (HGMD): UROD

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UROD

DNA2.0 Custom Variant and Variant Library Synthesis for UROD

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

UROD for disorders           About GeneDecksing

OMIM gene information: 613521
OMIM disorders: 176100
UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132

Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:176100]; also known as porphyria

cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset

in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is

often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively

common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria

cutanea tarda "sporadic" type or type I [MIM:176090]. PCT type I occurs sporadically as an unusual accompaniment of

common hepatic disorders such as alcohol-associated liver disease

Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:176100]. HEP is a rare autosomal

recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very

low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea

tarda

20/40 diseases for UROD (see all 40): About MalaCards

porphyria cutanea tarda porphyria aminolevulinate dehydratase deficiency porphyria congenital erythropoietic porphyria

hepatoerythropoietic porphyria iron overload variegate porphyria acute intermittent porphyria

coproporphyria hereditary coproporphyria siderosis macrocytic anemia

cutaneous porphyria acute hepatic porphyria viral hepatitis alcohol abuse

metabolic disorders peptic ulcer hemochromatosis hepatitis c

5 diseases from the University of Copenhagen DISEASES database for UROD:

Porphyria cutanea tarda Hepatoerythropoietic porphyria Cutaneous porphyria Hemochromatosis

Hypertrichosis

10/25 Novoseek disease relationships for UROD gene (see all 25) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
porphyria cutanea tarda	97.6	101	2243121 (3), 8099886 (2), 19001803 (2), 11295834 (2) (see all 63)
porphyria	94.6	55	1634232 (2), 8644733 (2), 10397714 (2), 20479301 (2) (see all 29)
porphyria, congenital erythropoietic	88.8	5	9156565 (2), 16365260 (1), 9861496 (1), 11112350 (1)
porphyria hepatic	85.1	1	7998828 (1)
porphyria acute intermittent	77.8	3	7962538 (1), 8563760 (1), 12699245 (1)
porphyria variegate	77.6	1	12699245 (1)
hemochromatosis	74.7	9	11069625 (1), 19233912 (1), 19001803 (1), 9792863 (1) (see all 6)
iron overload	66.7	6	9425935 (1), 15139402 (1), 11134514 (1), 10189391 (1) (see all 6)
siderosis	64.5	3	11929045 (1), 12297827 (1), 11134514 (1)
enzyme deficiency	60.5	1	8952673 (1)

Genatlas disease: UROD

porphyria cutanea tarda,hepatoerythropoietic,autosomal dominant photosensitive dermatitis,mechanical fragility of the

light-exposed skin,hyperpigmentation,hypertrichosis,provoked by various ecogenic factors and,likely by heterozygosity

to some HFE mutations

Human Genome Epidemiology (HuGE) Navigator: UROD (7 documents)

Export disorders for UROD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for UROD gene, integrated from 9 sources (see all 188):
(articles sorted by number of sources associating them with UROD)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. (PubMed id 3015909)^{1, 2, 3} Romeo P.-H.... Goossens M. (1986)
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. (PubMed id 8896428)^{1, 2, 9} McManus J.F.... Ratnaike S. (1996)
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. (PubMed id 8176248)^{1, 2, 9} Meguro K....Sassa S. (1994)
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. (PubMed id 11719352)^{1, 2, 9} Phillips J.D....Kushner J.P. (2001)
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. (PubMed id 8644733)^{1, 2, 9} Moran-Jimenez M.J.... de Verneuil H. (1996)
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f- PCT). (PubMed id 11295834)^{1, 2, 9} Cappellini M.D.... Fiorelli G. (2001)
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. (PubMed id 10477430)^{1, 2, 9} Christiansen L.... Petersen N.E. (1999)
Crystal structure of human uroporphyrinogen decarboxylase. (PubMed id 9564029)^{1, 2, 9} Whitby F.G.... Hill C.P. (1998)
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (PubMed id 2243121)^{1, 2, 9} Garey J.R....Kushner J.P. (1990)
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. (PubMed id 15491440)^{1, 2, 9} Armstrong D.K.B.... Elder G.H. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7389	HGNC: 12591	AceView: UROD	Ensembl:ENSG00000126088	euGenes: HUgn7389
ECgene: UROD	Kegg: 7389	H-InvDB: UROD

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UROD	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UROD
Wikipedia	http://en.wikipedia.org/wiki/Uroporphyrinogen_III_decarboxylase

Intellectual Property for UROD gene
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Patent Information for UROD gene:
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ENZYME DEFICIENCY
Porphyria
HIV Infections
Porphyria Acute Intermittent
Porphyria Cutanea Tarda
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Anemia Sideroblastic
Hepatitis
Liver diseases
Hemochromatosis
LIVER DAMAGE
Skin Diseases
Tumors
Iron Overload
Siderosis
HEPATOCELLULAR CARCINOMA
chronic liver disease
metabolic disorder
Porphyria Variegate
genetic disorder
virus infection
Viral hepatitis
Porphyria Hepatic
Hepatitis C
Renal Failure Chronic

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UROD Gene

uroporphyrinogen decarboxylase

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