Human Gene UROD (ENST00000636836.1) Description and Page Index
  Description: uroporphyrinogen decarboxylase (from HGNC UROD)
RefSeq Summary (NM_000374): 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].
Gencode Transcript: ENST00000636836.1
Gencode Gene: ENSG00000126088.14
Transcript (Including UTRs)
   Position: hg38 chr1:45,012,207-45,015,575 Size: 3,369 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr1:45,012,266-45,015,358 Size: 3,093 Coding Exon Count: 9 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:45,012,207-45,015,575)mRNA (may differ from genome)Protein (298 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: UROD
Diseases sorted by gene-association score: porphyria cutanea tarda* (1646), urod-related porphyrias* (500), familial porphyria cutanea tarda* (455), mandibulofacial dysostosis, guion-almeida type* (71), porphyria (42), cutaneous porphyria (35), siderosis (18), hypertelorism, microtia, facial clefting syndrome (16), porphyria, congenital erythropoietic (12), porphyria, acute intermittent (10), porphyria variegata (10), coproporphyria (9), hemochromatosis (9), breast giant fibroadenoma (8), hypertrichosis (8), chromosomal disease (8), acute porphyria (7), diabetes mellitus, transient neonatal, 1 (7), rhizomelic chondrodysplasia punctata, type 3 (7), alcohol abuse (5), patau syndrome (5), rhizomelic chondrodysplasia punctata, type 2 (5), rhizomelic chondrodysplasia punctata, type 1 (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.42 RPKM in Adrenal Gland
Total median expression: 1054.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.0059-0.271 Picture PostScript Text
3' UTR -57.20217-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  AK291877 - Homo sapiens cDNA FLJ76900 complete cds, highly similar to Homo sapiens uroporphyrinogen decarboxylase (UROD), mRNA.
AK310208 - Homo sapiens cDNA, FLJ17250.
AK309446 - Homo sapiens cDNA, FLJ99487.
AK309724 - Homo sapiens cDNA, FLJ99765.
AK315878 - Homo sapiens cDNA, FLJ79527 complete cds, moderately similar to Uroporphyrinogen decarboxylase (EC 4.1.1.37).
BC001778 - Homo sapiens uroporphyrinogen decarboxylase, mRNA (cDNA clone MGC:1856 IMAGE:3542421), complete cds.
AK295284 - Homo sapiens cDNA FLJ59203 complete cds, moderately similar to Uroporphyrinogen decarboxylase (EC 4.1.1.37).
M14016 - Human uroporphyrinogen decarboxylase mRNA, complete cds.
AF104421 - Homo sapiens isolate normal patient 1 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104422 - Homo sapiens isolate normal patient 2 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104423 - Homo sapiens isolate normal patient 3 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104424 - Homo sapiens isolate normal patient 4 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104425 - Homo sapiens isolate normal patient 5 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104426 - Homo sapiens isolate normal patient 6 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104427 - Homo sapiens isolate normal patient 7 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104428 - Homo sapiens isolate normal patient 8 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104429 - Homo sapiens isolate normal patient 9 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104430 - Homo sapiens isolate normal patient 10 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104431 - Homo sapiens isolate sporadic PCT patient 1 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104432 - Homo sapiens isolate sporadic PCT patient 2 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104433 - Homo sapiens isolate sporadic PCT patient 3 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104434 - Homo sapiens isolate sporadic PCT patient 4 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104435 - Homo sapiens isolate sporadic PCT patient 5 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104436 - Homo sapiens isolate sporadic PCT patient 6 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104437 - Homo sapiens isolate sporadic PCT patient 7 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104438 - Homo sapiens isolate sporadic PCT patient 8 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104439 - Homo sapiens isolate sporadic PCT patient 9 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
AF104440 - Homo sapiens isolate sporadic PCT patient 10 uroporphyrinogen decarboxylase (UROD) mRNA, complete cds.
BX647308 - Homo sapiens mRNA; cDNA DKFZp686O11196 (from clone DKFZp686O11196).
AK225053 - Homo sapiens mRNA for uroporphyrinogen decarboxylase variant, clone: adSH01242.
AK308996 - Homo sapiens cDNA, FLJ99037.
DQ890688 - Synthetic construct clone IMAGE:100003318; FLH165142.01X; RZPDo839G06158D uroporphyrinogen decarboxylase (UROD) gene, encodes complete protein.
DQ893870 - Synthetic construct Homo sapiens clone IMAGE:100008330; FLH165138.01L; RZPDo839G06157D uroporphyrinogen decarboxylase (UROD) gene, encodes complete protein.
AB529048 - Synthetic construct DNA, clone: pF1KB3632, Homo sapiens UROD gene for uroporphyrinogen decarboxylase, without stop codon, in Flexi system.
KJ897730 - Synthetic construct Homo sapiens clone ccsbBroadEn_07124 UROD gene, encodes complete protein.
KR709857 - Synthetic construct Homo sapiens clone CCSBHm_00006834 UROD (UROD) mRNA, encodes complete protein.
KR709858 - Synthetic construct Homo sapiens clone CCSBHm_00006856 UROD (UROD) mRNA, encodes complete protein.
KR709859 - Synthetic construct Homo sapiens clone CCSBHm_00006867 UROD (UROD) mRNA, encodes complete protein.
KR709860 - Synthetic construct Homo sapiens clone CCSBHm_00006875 UROD (UROD) mRNA, encodes complete protein.
CR456976 - Homo sapiens full open reading frame cDNA clone RZPDo834C065D for gene UROD, uroporphyrinogen decarboxylase; complete cds, incl. stopcodon.
CR542057 - Homo sapiens full open reading frame cDNA clone RZPDo834A1036D for gene UROD, uroporphyrinogen decarboxylase; complete cds, without stopcodon.
BT006737 - Homo sapiens uroporphyrinogen decarboxylase mRNA, complete cds.
AK293702 - Homo sapiens cDNA FLJ50456 complete cds, highly similar to Uroporphyrinogen decarboxylase (EC 4.1.1.37).
JD437470 - Sequence 418494 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00860 - Porphyrin and chlorophyll metabolism

BioCarta from NCI Cancer Genome Anatomy Project
h_ahspPathway - Hemoglobin's Chaperone

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1B0GVN9, AK291877, uc285gla.1
UCSC ID: uc285gla.1
RefSeq Accession: NM_000374

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene UROD:
hep (Hepatoerythropoietic Porphyria)
porphyria-ct (Familial Porphyria Cutanea Tarda)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.