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UROD Gene

protein-coding   GIFtS: 68
GCID: GC01P045477

Uroporphyrinogen Decarboxylase

  See UROD-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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   

Export aliases for UROD gene to outside databases

Previous GC identifers: GC01P045205 GC01P044478 GC01P044907 GC01P044891 GC01P045147 GC01P045250 GC01P043589


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hepatoerythropoietic porphyria. GO annotations related to this gene include uroporphyrinogen decarboxylase activity.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 plasmidUROD promoter sequence
   Search Chromatin IP Primers for UROD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132 (See protein sequence)
Recommended Name: Uroporphyrinogen decarboxylase  
Size: 367 amino acids; 40787 Da
Subunit: Homodimer
Selected 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

Explore proteomics data for UROD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UROD (P06132) (see all 14)
     RVPLIGF  TLQPLRR  PLIGFAG  QVVAGAQ 


    See UROD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000365.3  
    ENSEMBL proteins: 
     ENSP00000246337   ENSP00000404489   ENSP00000400253  
    Reactome Protein details: P06132

    UROD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for UROD
    OriGene Protein Over-expression Lysate for UROD
    OriGene MassSpec for UROD
    OriGene Custom Protein Services for UROD
    GenScript Custom Purified and Recombinant Proteins Services for UROD
    Novus Biologicals UROD Proteins
    Novus Biologicals UROD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UROD
    Cloud-Clone Corp. Proteins for UROD

     
    Search eBioscience for Proteins for UROD 

     
    antibodies-online proteins for UROD (21 products) 

     
    antibodies-online peptides for UROD

    UROD Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for UROD
    Cloud-Clone Corp. Antibodies for UROD
    ThermoFisher Antibodies for UROD
    antibodies-online antibodies for UROD (33 products) 

    UROD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UROD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UROD
    Cloud-Clone Corp. CLIAs for UROD
    Search eBioscience for ELISAs for UROD 
    antibodies-online kits for UROD (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006361 Uroporphyrinogen_deCO2ase_HemE
     IPR000257 Uroporphyrinogen_deCOase

    Graphical View of Domain Structure for InterPro Entry P06132

    ProtoNet protein and cluster: P06132

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

    UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132
    Similarity: Belongs to the uroporphyrinogen decarboxylase family


    Find genes that share domains with UROD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004853uroporphyrinogen decarboxylase activity TAS--
         
    Find genes that share ontologies with UROD           About GenesLikeMe


    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 

    Find genes that share phenotypes with UROD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Urodtm1Kush for UROD

       genOway: Develop your customized and physiologically relevant rodent model for UROD

    miRNA
    Products:
        
    miRTarBase miRNAs that target UROD:
    hsa-mir-92b-3p (MIRT040550), hsa-mir-222-3p (MIRT046708), hsa-mir-10b-5p (MIRT047424)

    Block miRNA regulation of human, mouse, rat UROD using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate UROD:
    hsa-miR-3679-5p hsa-miR-875-3p hsa-miR-1185
    SwitchGear 3'UTR luciferase reporter plasmidUROD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UROD
    Predesigned siRNA for gene silencing in human, mouse, rat UROD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UROD

    Clone
    Products:
         
    OriGene clones in human, mouse for UROD (see all 6)
    OriGene ORF clones in mouse, rat for UROD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UROD (NM_002500)
    Sino Biological Human cDNA Clone for UROD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UROD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UROD

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UROD
    Browse ESI BIO Cell Lines and PureStem Progenitors for UROD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DCUP_HUMAN, P06132: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus4
    chloroplast2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0015630microtubule cytoskeleton ----

    Find genes that share ontologies with UROD           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UROD About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme Biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    Heme biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38


    Find genes that share SuperPaths with UROD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UROD
        Heme Biosynthesis


    1 Reactome Pathway for UROD
        Heme biosynthesis


    2 Kegg Pathways  (Kegg details for UROD):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from
    5-aminolevulinate: step 4/4

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UROD
    Interactions:

        Search GeneGlobe Interaction Network for UROD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for UROD (P061322, 3 ENSP000002463374) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHD3Q128732, 3MINT-8276894 I2D: score=2 
    FAF1Q9UNN52, 3MINT-8276905 I2D: score=2 
    VIMP086702, 3MINT-8276927 I2D: score=2 
    HMGXB4Q9UGU52, 3, ENSP000002161064MINT-8276916 I2D: score=2 STRING: ENSP00000216106
    EIF3BP558843, ENSP000003541254I2D: score=3 STRING: ENSP00000354125
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process ----
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0042168heme metabolic process ----

    Find genes that share ontologies with UROD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UROD (DCUP)

    Selected HMDB Compounds for UROD (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coproporphyrin III 14643-66-4--
    Coproporphyrinogen I3,8,13,18-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoate (see all 2)31110-56-2--
    Coproporphyrinogen III3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate (see all 9)2624-63-7--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Heptacarboxylporphyrin IHeptacarboxylic acid porphyrin I (see all 2)65406-45-3--
    Heptacarboxylporphyrin IIIHeptacarboxylic acid prophyrin III (see all 2)----
    Hexacarboxylporphyrin IHexacarboxylic acid prophyrin I (see all 2)73913-56-1--
    Hexacarboxylporphyrin IIIHexacarboxylic acid porphyrin III (see all 2)----

    2 DrugBank Compounds for UROD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coproporphyrin I-- --target--17139284 17016423
    Coproporphyrin Iii-- --target--17139284 17016423

    Selected Novoseek inferred 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)



    Find genes that share compounds with UROD           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UROD gene: 
    NM_000374.4  

    Unigene Cluster for UROD:

    Uroporphyrinogen decarboxylase
    Hs.78601  [show with all ESTs]
    Unigene Representative Sequence: BX647308
    Selected 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 ENST00000460906 ENST00000490385 ENST00000469548
    ENST00000486699 ENST00000478467 ENST00000428106 ENST00000496439 ENST00000473012
    ENST00000472254
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UROD using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate UROD:
    hsa-miR-3679-5p hsa-miR-875-3p hsa-miR-1185
    SwitchGear 3'UTR luciferase reporter plasmidUROD 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UROD
    Predesigned siRNA for gene silencing in human, mouse, rat UROD
    Clone
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    OriGene clones in human, mouse for UROD (see all 6)
    OriGene ORF clones in mouse, rat for UROD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UROD (NM_002500)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UROD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UROD
    Primer
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    OriGene qPCR primer pairs and template standards for UROD
    OriGene qSTAR qPCR primer pairs in human, mouse for UROD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UROD
      QuantiTect SYBR Green Assays in human, mouse, rat UROD
      QuantiFast Probe-based Assays in human, mouse, rat UROD

    Additional mRNA 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 

    Selected 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 

    Selected AceView cDNA sequences (see all 702):

    AW005903 BG494693 CB215379 AA468741 BU661521 CD675589 BM773230 AW673038 
    AI188680 BF840072 BG034805 CB160376 BM909673 BM014168 AW135376 AA534644 
    BM972044 BU679650 AI093011 CR619530 BM989509 BF725790 AI635904 N76829 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UROD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGCGCCTT
    UROD Expression
    About this image


    UROD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Bone Marrow
    UROD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UROD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78601
        Custom PCR Arrays for UROD
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UROD gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Urod1 , 5 uroporphyrinogen decarboxylase1, 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 71.17(n)
    76.58(a)
      424590  XM_004936740.1  XP_004936797.1 
    lizard
    (Anolis carolinensis)
    Reptilia UROD6
    uroporphyrinogen decarboxylase
    74(a)
    1 ↔ 1
    4(110599322-110615768)
    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 Updo1 , 3 uroporphyrinogen decarboxylase3
    Updo1
    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
    HEM121
    53.52(n)1
    52.86(a)1
      4(551860-552948)4
    8516171, 4  NP_010332.31  NP_010332.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HEME21 HEME2 45.15(n)
    35.44(a)
      818644  NM_129611.4  NP_181581.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03376001 Os03g0337600 46.52(n)
    37.07(a)
      4332771  NM_001056584.1  NP_001050049.1 


    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

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for UROD (see all 165)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs360331151,2,,4
    C,FFamilial porphyria cutanea tarda (FPCT)4 --45480232(-) GTGCCA/TGGCCT 3 Q L mis16Minor allele frequency- T:0.01NA EU 6049
    rs1162331181,2,,4
    C,FFamilial porphyria cutanea tarda (FPCT)4 --45481018(+) AGATCG/AGGCAG 3 /R /G mis12Minor allele frequency- A:0.01WA NA 4668
    VAR_0079164
    Familial porphyria cutanea tarda (FPCT)4--see VAR_0079162 R H mis40--------
    VAR_0109854
    Familial porphyria cutanea tarda (FPCT)4--see VAR_0109852 R Q mis40--------
    VAR_0077164
    Familial porphyria cutanea tarda (FPCT)4--see VAR_0077162 G V mis40--------
    VAR_0225684
    Hepatoerythropoietic porphyria (HEP)4--see VAR_0225682 F L mis40--------
    VAR_0225694
    Familial porphyria cutanea tarda (FPCT)4--see VAR_0225692 A S mis40--------
    VAR_0077154
    Hepatoerythropoietic porphyria (HEP)4--see VAR_0077152 G E mis40--------
    VAR_0225724
    Familial porphyria cutanea tarda (FPCT)4--see VAR_0225722 R P mis40--------
    VAR_0077174
    Hepatoerythropoietic porphyria (HEP)4--see VAR_0077172 R G mis40--------

    HapMap Linkage Disequilibrium report for UROD (45477805 - 45481341 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UROD: --
    Human Gene Mutation Database (HGMD): UROD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 613521   
    OMIM disorders: 176100  
    UniProtKB/Swiss-Prot: DCUP_HUMAN, P06132
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for UROD:    
    About MalaCards
    porphyria cutanea tarda    hepatoerythropoietic porphyria    cutaneous porphyria    urod-related porphyrias
    odontohypophosphatasia    acute hepatic porphyria    hereditary coproporphyria    acute intermittent porphyria
    mandibulofacial dysostosis with microcephaly    congenital erythropoietic porphyria    siderosis    macrocytic anemia
    porphyria    hypertrichosis    porphyria cutanea tarda, type ii    viral hepatitis
    variegate porphyria

    9 diseases from the University of Copenhagen DISEASES database for UROD:
    Porphyria cutanea tarda     Hepatoerythropoietic porphyria     Cutaneous porphyria     Hereditary coproporphyria
    Hypertrichosis     Acute intermittent porphyria     Hemochromatosis     Variegate porphyria
    Siderosis

    Find genes that share disorders with UROD           About GenesLikeMe

    Selected Novoseek inferred 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

    Genetic Association Database (GAD): UROD
    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)
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    PubMed articles for UROD gene, integrated from 10 sources (see all 197):
    (articles sorted by number of sources associating them with UROD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. (PubMed id 3015909)1, 2, 3 Romeo P.-H.... Goossens M. (J. Biol. Chem. 1986)
    2. 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. (Blood 1996)
    3. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. (PubMed id 8176248)1, 2, 9 Meguro K....Sassa S. (J. Invest. Dermatol. 1994)
    4. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. (PubMed id 11719352)1, 2, 9 Phillips J.D....Kushner J.P. (Blood 2001)
    5. 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. (Am. J. Hum. Genet. 1996)
    6. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. (PubMed id 17627795)1, 4, 9 MAcndez M....EnrA-quez de Salamanca R. (Br. J. Dermatol. 2007)
    7. 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. (Hum. Mutat. 2001)
    8. 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. (Hum. Mutat. 1999)
    9. Crystal structure of human uroporphyrinogen decarboxylase. (PubMed id 9564029)1, 2, 9 Whitby F.G.... Hill C.P. (EMBO J. 1998)
    10. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. (PubMed id 19419417)1, 4, 9 Badenas C....Herrero C. (Clin. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UROD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UROD[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Uroporphyrinogen_III_decarboxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UROD gene:
    Search GeneIP for patents involving UROD

    GeneCards and IP:
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