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UROD uroporphyrinogen decarboxylase [ Homo sapiens (human) ]

Gene ID: 7389, updated on 8-Dec-2018

Summary

Official Symbol
URODprovided by HGNC
Official Full Name
uroporphyrinogen decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:12591
See related
Ensembl:ENSG00000126088 MIM:613521
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

Genomic context

See UROD in Genome Data Viewer
Location:
1p34.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (45012133..45015669)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45477805..45481341)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S17 pseudogene 1 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 uncharacterized LOC105378691 Neighboring gene long intergenic non-protein coding RNA 1144

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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
uroporphyrinogen decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
uroporphyrinogen decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
uroporphyrinogen decarboxylase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme biosynthetic process IC
Inferred by Curator
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
uroporphyrinogen decarboxylase
Names
uroporphyrinogen III decarboxylase
NP_000365.3
XP_005271226.1
XP_005271227.1

NCBI Reference Sequences (RefSeq)

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
    P06132
    Related
    ENSP00000246337.4, ENST00000246337.8
    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_036510.1 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)
    AF104423, AK225053, AK291877, AL359473, DB462002
  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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    45012133..45015669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271169.1XP_005271226.1  uroporphyrinogen decarboxylase isoform X1

    Conserved Domains (1) summary
    cd00717
    Location:17287
    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 ...
  2. XM_005271170.1XP_005271227.1  uroporphyrinogen decarboxylase isoform X1

    Conserved Domains (1) summary
    cd00717
    Location:17287
    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 ...
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