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    UROD uroporphyrinogen decarboxylase [ Homo sapiens (human) ]

    Gene ID: 7389, updated on 2-Nov-2024

    Summary

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    Official Symbol
    URODprovided by HGNC
    Official Full Name
    uroporphyrinogen decarboxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:12591
    See related
    Ensembl:ENSG00000126088 MIM:613521; AllianceGenome:HGNC:12591
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCT; UPD
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 73.9), adrenal (RPKM 43.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UROD in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45012254..45015575)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44882726..44887169)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45477926..45481247)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S17 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45479433-45479969 Neighboring gene HECT domain E3 ubiquitin protein ligase 3 Neighboring gene zinc finger SWIM-type containing 5 Neighboring gene oligosaccharyltransferase complex subunit pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 10410 Neighboring gene MPRA-validated peak198 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45670855-45671755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45671756-45672655 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:45688973-45689613 Neighboring gene uncharacterized LOC105378691 Neighboring gene Sharpr-MPRA regulatory region 9521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 828

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. Poblete-Gutiérrez P, et al. Exp Dermatol, 2004 Jun. PMID 15186324
    2. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Phillips JD, et al. Blood, 2001 Dec 1. PMID 11719352
    3. Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach. Doss CG, et al. Cell Biochem Biophys, 2014 Nov. PMID 24777812
    4. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Ged C, et al. Arch Dermatol, 2002 Jul. PMID 12071824
    5. Hepatoerythropoietic Porphyria. Adam MP, et al. , 1993. PMID 24175354

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results expand the molecular heterogeneity of Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria by adding a total of 19 novel UROD mutations.
      Title: Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
    2. a new mutation in the UROD gene in Egyptian patients with Hepatoerythropoietic porphyria, is reported.
      Title: Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
    3. a new insight in the conformational changes occurred in the mutant structures of UROD protein.
      Title: Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.
    4. Data suggest that the traditional Chinese medicine (TCM) candidate potential three-in-one inhibitors for three drug target proteins epidermal growth factor receptor (EGFR), Her2, and uroporphyrinogen decarboxylase (UROD) against head and neck cancer.
      Title: A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.
    5. Expression of the D306Y mutation results in an insoluble recombinant protein. G318R and K297N have little effect on the structure or activity of recombinant URO-D, but the proteins display reduced stability in vitro.
      Title: Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
    6. Among seventeen F-PCT patients, sixteen UROD mutations were identified.
      Title: Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
    7. analysis of uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine
      Title: Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.
    8. Mutations in UROD gene is associated with familial porphyria cutanea tarda.
      Title: Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
    9. Hepatoerythropoietic porphyria and familial porphyria cutanea tarda G281E mutation in the uroporphyrinogen decarboxylase gene
      Title: Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
    10. function of Arg37 in uroporphyrinogen III decarboxylase
      Title: A tale of two acids: when arginine is a more appropriate acid than H3O+.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Familial porphyria cutanea tarda
    MedGen: C0268323 OMIM: 176100 GeneReviews: Familial Porphyria Cutanea Tarda, Hepatoerythropoietic Porphyria
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-10-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2024-10-04)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to upregulate expression of profibrogenic markers COL-1, PCT, SMA-1, VEGF, and MMP2, which is inhibited by MIF treatment PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables uroporphyrinogen decarboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uroporphyrinogen decarboxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme B biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme O biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heme biosynthetic process IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in porphyrin-containing compound catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in porphyrin-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    uroporphyrinogen decarboxylase
    Names
    uroporphyrinogen III decarboxylase
    NP_000365.3
    XP_047285914.1
    XP_054194585.1
    XP_054194586.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007122.2 RefSeqGene

      Range
      5097..8418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1079

    mRNA and Protein(s)

    1. NM_000374.5 → NP_000365.3  uroporphyrinogen decarboxylase

      See identical proteins and their annotated locations for NP_000365.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.
      Source sequence(s)
      AK291877, AL359473
      Consensus CDS
      CCDS518.1
      UniProtKB/Swiss-Prot
      A8K762, P06132, Q16863, Q16883, Q53YB8, Q53ZP6, Q6IB28, Q9BUZ0
      UniProtKB/TrEMBL
      A0A494C085
      Related
      ENSP00000246337.4, ENST00000246337.9
      Conserved Domains (1) summary
      cd00717
      Location:20 → 359
      URO-D; Uroporphyrinogen decarboxylase (URO-D) is a dimeric cytosolic enzyme that decarboxylates the four acetate side chains of uroporphyrinogen III (uro-III) to create coproporphyrinogen III, without requiring any prosthetic groups or cofactors. This reaction ...

    RNA

    1. NR_036510.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK225053, AK291877, AL359473
      Related
      ENST00000651476.1

    2. NR_158184.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359473

    3. NR_158185.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359473

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      45012254..45015575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429958.1 → XP_047285914.1  uroporphyrinogen decarboxylase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      44882726..44887169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338610.1 → XP_054194585.1  uroporphyrinogen decarboxylase isoform X2

      UniProtKB/TrEMBL
      A0A494C0Q8

    2. XM_054338611.1 → XP_054194586.1  uroporphyrinogen decarboxylase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P06132.2 GenPept UniProtKB/Swiss-Prot:P06132

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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