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    UROD uroporphyrinogen decarboxylase [ Homo sapiens (human) ]

    Gene ID: 7389, updated on 23-Nov-2023

    Summary

    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
    NEW
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    Genomic context

    See UROD in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45012254..45015575)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44882726..44887169)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000374.5NP_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:20359
      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_2023_10

    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_047429958.1XP_047285914.1  uroporphyrinogen decarboxylase isoform X1

      UniProtKB/TrEMBL
      A0A494C085

    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_054338610.1XP_054194585.1  uroporphyrinogen decarboxylase isoform X2

      UniProtKB/TrEMBL
      A0A494BZY8, A0A494C0Q8
    2. XM_054338611.1XP_054194586.1  uroporphyrinogen decarboxylase isoform X1

      UniProtKB/TrEMBL
      A0A494C085