UROD

Protein identityUniProt · HPA

UniProt accession

P06132

Gene

UROD

Ensembl

ENSG00000126088

Chromosome

1

Canonical length

367 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>P06132|UROD
     1  MEANGLGPQG FPELKNDTFL RAAWGEETDY TPVWCMRQAG RYLPEFRETR AAQDFFSTCR
    61  SPEACCELTL QPLRRFPLDA AIIFSDILVV PQALGMEVTM VPGKGPSFPE PLREEQDLER
   121  LRDPEVVASE LGYVFQAITL TRQRLAGRVP LIGFAGAPWT LMTYMVEGGG SSTMAQAKRW
   181  LYQRPQASHQ LLRILTDALV PYLVGQVVAG AQALQLFESH AGHLGPQLFN KFALPYIRDV
   241  AKQVKARLRE AGLAPVPMII FAKDGHFALE ELAQAGYEVV GLDWTVAPKK ARECVGKTVT
   301  LQGNLDPCAL YASEEEIGQL VKQMLDDFGP HRYIANLGHG LYPDMDPEHV GAFVDAVHKH
   361  SRLLRQN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UROD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.21

Highest tissue expression

188 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UROD.

Disease | AllUniProt

Conditions UROD is implicated in, by any mechanism.

• Familial porphyria cutanea tarda (FPCT) MIM:176100
• Hepatoerythropoietic porphyria (HEP) MIM:176100

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 207 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Familial porphyria cutanea tarda
• UROD-related disorder
• Hepatoerythropoietic porphyria
• Porphyria cutanea tarda
• Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0

gnomAD missense Z

1.11

DepMap mean gene effect

-0.63

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• heme A biosynthetic process
• heme B biosynthetic process
• heme biosynthetic process
• porphyrin-containing compound metabolic process
• protoporphyrinogen IX biosynthetic process
• porphyrin-containing compound catabolic process

Molecular functions

• uroporphyrinogen decarboxylase activity

Cellular components

• cytosol
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Uroporphyrinogen decarboxylase (URO-D)
• Uroporphyrinogen decarboxylase HemE
• UROD/MetE-like superfamily
• Uroporphyrinogen decarboxylase (URO-D)

KeywordsUniProt

• Acetylation
• Cytoplasm
• Decarboxylase
• Heme biosynthesis
• Lyase
• Porphyrin biosynthesis