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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
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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

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 Variation Viewer (GRCh37.p13)

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

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