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Aliases for UROD Gene

Aliases for UROD Gene

  • Uroporphyrinogen Decarboxylase 2 3
  • EC 4.1.1.37 4 63
  • UPD 3 4
  • Uroporphyrinogen III Decarboxylase 3
  • URO-D 4
  • PCT 3

External Ids for UROD Gene

Previous GeneCards Identifiers for UROD Gene

  • GC01P045205
  • GC01P044478
  • GC01P044907
  • GC01P044891
  • GC01P045147
  • GC01P045250
  • GC01P045477
  • GC01P043589

Summaries for UROD Gene

Entrez Gene Summary for UROD Gene

  • 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]

GeneCards Summary for UROD Gene

UROD (Uroporphyrinogen Decarboxylase) is a Protein Coding gene. Diseases associated with UROD include porphyria cutanea tarda and urod-related porphyrias. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include uroporphyrinogen decarboxylase activity.

UniProtKB/Swiss-Prot for UROD Gene

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

Gene Wiki entry for UROD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UROD Gene

Genomics for UROD Gene

Regulatory Elements for UROD Gene

Genomic Location for UROD Gene

Start:
45,012,133 bp from pter
End:
45,015,669 bp from pter
Size:
3,537 bases
Orientation:
Plus strand

Genomic View for UROD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UROD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UROD Gene

Proteins for UROD Gene

  • Protein details for UROD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06132-DCUP_HUMAN
    Recommended name:
    Uroporphyrinogen decarboxylase
    Protein Accession:
    P06132
    Secondary Accessions:
    • A8K762
    • Q16863
    • Q16883
    • Q53YB8
    • Q53ZP6
    • Q6IB28
    • Q9BUZ0

    Protein attributes for UROD Gene

    Size:
    367 amino acids
    Molecular mass:
    40787 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for UROD Gene

neXtProt entry for UROD Gene

Proteomics data for UROD Gene at MOPED

Post-translational modifications for UROD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UROD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for UROD Gene

Graphical View of Domain Structure for InterPro Entry

P06132

UniProtKB/Swiss-Prot:

DCUP_HUMAN :
  • P06132
Family:
  • Belongs to the uroporphyrinogen decarboxylase family.
genes like me logo Genes that share domains with UROD: view

No data available for Gene Families for UROD Gene

Function for UROD Gene

Molecular function for UROD Gene

GENATLAS Biochemistry: uroporphyrinogen decarboxylase,cytosolic,catalyzing coproporphyrinogen IX formation,fifth step of porphyrin synthesis
UniProtKB/Swiss-Prot CatalyticActivity: Uroporphyrinogen III = coproporphyrinogen + 4 CO(2)
UniProtKB/Swiss-Prot Function: Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III

Enzyme Numbers (IUBMB) for UROD Gene

Gene Ontology (GO) - Molecular Function for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004853 uroporphyrinogen decarboxylase activity TAS --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with UROD: view
genes like me logo Genes that share phenotypes with UROD: view

Animal Models for UROD Gene

MGI Knock Outs for UROD:

miRNA for UROD Gene

miRTarBase miRNAs that target UROD

No data available for Transcription Factor Targeting and HOMER Transcription for UROD Gene

Localization for UROD Gene

Subcellular locations from UniProtKB/Swiss-Prot for UROD Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UROD Gene COMPARTMENTS Subcellular localization image for UROD gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 4
chloroplast 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UROD: view

Pathways for UROD Gene

genes like me logo Genes that share pathways with UROD: view

Pathways by source for UROD Gene

1 BioSystems pathway for UROD Gene
3 Reactome pathways for UROD Gene

UniProtKB/Swiss-Prot P06132-DCUP_HUMAN

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

Gene Ontology (GO) - Biological Process for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0042168 heme metabolic process --
genes like me logo Genes that share ontologies with UROD: view

Compounds for UROD Gene

(15) HMDB Compounds for UROD Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
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
31110-56-2
Coproporphyrinogen III
  • 3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate
2624-63-7
Formyl-CoA
  • Formyl coenzyme A
13131-49-2

(2) Drugbank Compounds for UROD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Coproporphyrin I
target
Coproporphyrin Iii
target

(30) Novoseek inferred chemical compound relationships for UROD Gene

Compound -log(P) Hits PubMed IDs
uroporphyrinogen-iii 94.6 23
uroporphyrin 94.3 13
uroporphyrin i 89.3 5
uroporphyrinogen i 88.3 2
porphobilinogen 85.2 9
genes like me logo Genes that share compounds with UROD: view

Transcripts for UROD Gene

Unigene Clusters for UROD Gene

Uroporphyrinogen decarboxylase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UROD Gene

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: - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - -
SP12: - - - -
SP13: - - -
SP14:
SP15:
SP16: - - - - - - - -
SP17: - - - - -
SP18: - - -
SP19: - - -
SP20: - -
SP21: - - - - -
SP22: - - - -
SP23: - -
SP24: - - - -
SP25:
SP26: - - - - -
SP27:
SP28:
SP29:

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: - -
SP6: - - -
SP7:
SP8:
SP9: - -
SP10: -
SP11: -
SP12: - - - - -
SP13: - -
SP14: - - -
SP15: - - - - - - - -
SP16:
SP17:
SP18:
SP19: -
SP20: -
SP21:
SP22:
SP23:
SP24:
SP25: -
SP26:
SP27:
SP28: -
SP29: - -

Relevant External Links for UROD Gene

GeneLoc Exon Structure for
UROD
ECgene alternative splicing isoforms for
UROD

Expression for UROD Gene

mRNA expression in normal human tissues for UROD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UROD Gene

SOURCE GeneReport for Unigene cluster for UROD Gene Hs.78601

genes like me logo Genes that share expressions with UROD: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UROD Gene

Orthologs for UROD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UROD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UROD 35
  • 99.64 (n)
  • 99.73 (a)
UROD 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UROD 35
  • 91.28 (n)
  • 94.28 (a)
UROD 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UROD 35
  • 91.55 (n)
  • 93.73 (a)
UROD 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Urod 35
  • 88.92 (n)
  • 92.92 (a)
Urod 16
Urod 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UROD 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Urod 35
  • 89.1 (n)
  • 93.19 (a)
chicken
(Gallus gallus)
Aves UROD 35
  • 71.17 (n)
  • 76.58 (a)
UROD 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UROD 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15429 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10689 35
urod 35
  • 67.6 (n)
  • 72.27 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3585 35
zebrafish
(Danio rerio)
Actinopterygii urod 35
  • 66.95 (n)
  • 69.75 (a)
urod 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011895 35
  • 58.62 (n)
  • 57.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta Updo 35
  • 56.95 (n)
  • 54.57 (a)
Updo 36
  • 50 (a)
OneToOne
Updo 37
  • 54 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL210C 35
  • 54.01 (n)
  • 52.41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM12 35
  • 53.52 (n)
  • 52.86 (a)
HEM12 36
  • 51 (a)
OneToOne
HEM12 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11770g 35
  • 53.11 (n)
  • 51.25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEME2 35
  • 45.15 (n)
  • 35.44 (a)
rice
(Oryza sativa)
Liliopsida Os03g0337600 35
  • 46.52 (n)
  • 37.07 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02771 35
  • 55.78 (n)
  • 50.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem12 35
  • 53.99 (n)
  • 54.47 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14012 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8855 36
  • 58 (a)
OneToOne
Species with no ortholog for UROD:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UROD Gene

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

Paralogs for UROD Gene

No data available for Paralogs for UROD Gene

Variants for UROD Gene

Sequence variations from dbSNP and Humsavar for UROD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs13948 -- 45,015,157(+) GTTGC(C/T)GTTGT intron-variant
rs1050758 -- 45,015,403(+) CCAAC(C/T)TGGGC reference, synonymous-codon, nc-transcript-variant
rs1050797 -- 45,015,499(+) ACTGA(C/G)TGTAT utr-variant-3-prime, nc-transcript-variant
rs1050801 -- 45,015,500(+) CTGAG(C/T)GTATA utr-variant-3-prime, nc-transcript-variant
rs1063502 -- 45,013,624(+) TACCT(A/G)GCAAA missense, reference, nc-transcript-variant

Relevant External Links for UROD Gene

HapMap Linkage Disequilibrium report
UROD
Human Gene Mutation Database (HGMD)
UROD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UROD Gene

Disorders for UROD Gene

(1) OMIM Diseases for UROD Gene (613521)

UniProtKB/Swiss-Prot

DCUP_HUMAN
  • Familial porphyria cutanea tarda (FPCT) [MIM:176100]: A form of porphyria. 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. Familial porphyria cutanea tarda 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. {ECO:0000269 PubMed:10338097, ECO:0000269 PubMed:10477430, ECO:0000269 PubMed:11069625, ECO:0000269 PubMed:11295834, ECO:0000269 PubMed:11719352, ECO:0000269 PubMed:2243121, ECO:0000269 PubMed:2920211, ECO:0000269 PubMed:7706766, ECO:0000269 PubMed:8896428, ECO:0000269 PubMed:9792863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hepatoerythropoietic porphyria (HEP) [MIM:176100]: A form of porphyria. 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. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. {ECO:0000269 PubMed:12071824, ECO:0000269 PubMed:15491440, ECO:0000269 PubMed:1634232, ECO:0000269 PubMed:17240319, ECO:0000269 PubMed:1905636, ECO:0000269 PubMed:21668429, ECO:0000269 PubMed:3775362, ECO:0000269 PubMed:8176248, ECO:0000269 PubMed:8644733, ECO:0000269 PubMed:8896428}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(25) Novoseek inferred disease relationships for UROD Gene

Disease -log(P) Hits PubMed IDs
porphyria cutanea tarda 97.6 72
porphyria 94.6 35
porphyria, congenital erythropoietic 88.8 5
porphyria hepatic 85.1 1
porphyria acute intermittent 77.8 3

Genatlas disease for UROD Gene

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

Relevant External Links for UROD

Genetic Association Database (GAD)
UROD
Human Genome Epidemiology (HuGE) Navigator
UROD
genes like me logo Genes that share disorders with UROD: view

Publications for UROD Gene

  1. Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. (PMID: 1634232) de Verneuil H. … Nordmann Y. (Hum. Genet. 1992) 3 4 23
  2. Identification of a new mutation responsible for hepatoerythropoietic porphyria. (PMID: 1905636) Romana M. … Romeo P.-H. (Eur. J. Clin. Invest. 1991) 3 4 23
  3. Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (PMID: 2243121) Garey J.R. … Kushner J.P. (J. Clin. Invest. 1990) 3 4 23
  4. A mutation 'G281E' of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. (PMID: 7706766) Roberts A.G. … Mascaro J.M. (J. Invest. Dermatol. 1995) 3 4 23
  5. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. (PMID: 8644733) Moran-Jimenez M.J. … de Verneuil H. (Am. J. Hum. Genet. 1996) 3 4 23

Products for UROD Gene

Sources for UROD Gene

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