UniProt functional annotation for P06132



	UniProt functional annotation for P06132

UniProt code: P06132.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.

Catalytic activity: Reaction=4 H(+) + uroporphyrinogen III = 4 CO2 + coproporphyrinogen III; Xref=Rhea:RHEA:19865, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57308, ChEBI:CHEBI:57309; EC=4.1.1.37;

Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4.

Subunit: Homodimer. {ECO:0000269|PubMed:14633982, ECO:0000269|PubMed:9194196, ECO:0000269|PubMed:9564029}.

Subcellular location: Cytoplasm.

Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light- sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. {ECO:0000269|PubMed:10338097, ECO:0000269|PubMed:10477430, ECO:0000269|PubMed:11069625, ECO:0000269|PubMed:11295834, ECO:0000269|PubMed:11719352, ECO:0000269|PubMed:2243121, ECO:0000269|PubMed:2920211, ECO:0000269|PubMed:7706766, ECO:0000269|PubMed:8896428, ECO:0000269|PubMed:9792863}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Hepatoerythropoietic porphyria (HEP) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. {ECO:0000269|PubMed:12071824, ECO:0000269|PubMed:15491440, ECO:0000269|PubMed:1634232, ECO:0000269|PubMed:17240319, ECO:0000269|PubMed:1905636, ECO:0000269|PubMed:21668429, ECO:0000269|PubMed:3775362, ECO:0000269|PubMed:8176248, ECO:0000269|PubMed:8644733, ECO:0000269|PubMed:8896428}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the uroporphyrinogen decarboxylase family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.


Catalytic activity:		Reaction=4 H(+) + uroporphyrinogen III = 4 CO2 + coproporphyrinogen III; Xref=Rhea:RHEA:19865, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57308, ChEBI:CHEBI:57309; EC=4.1.1.37;
Pathway:		Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4.
Subunit:		Homodimer. {ECO:0000269\|PubMed:14633982, ECO:0000269\|PubMed:9194196, ECO:0000269\|PubMed:9564029}.
Subcellular location:		Cytoplasm.
Disease:		Familial porphyria cutanea tarda (FPCT) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light- sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. {ECO:0000269\|PubMed:10338097, ECO:0000269\|PubMed:10477430, ECO:0000269\|PubMed:11069625, ECO:0000269\|PubMed:11295834, ECO:0000269\|PubMed:11719352, ECO:0000269\|PubMed:2243121, ECO:0000269\|PubMed:2920211, ECO:0000269\|PubMed:7706766, ECO:0000269\|PubMed:8896428, ECO:0000269\|PubMed:9792863}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Hepatoerythropoietic porphyria (HEP) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. {ECO:0000269\|PubMed:12071824, ECO:0000269\|PubMed:15491440, ECO:0000269\|PubMed:1634232, ECO:0000269\|PubMed:17240319, ECO:0000269\|PubMed:1905636, ECO:0000269\|PubMed:21668429, ECO:0000269\|PubMed:3775362, ECO:0000269\|PubMed:8176248, ECO:0000269\|PubMed:8644733, ECO:0000269\|PubMed:8896428}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the uroporphyrinogen decarboxylase family. {ECO:0000305}.