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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
10
Cytoband
q26.2
Chromosome location (bp)
125784980 - 125823258
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins 1,2. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Lyase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Heme biosynthesis, Porphyrin biosynthesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Enzymes ENZYME proteins Lyases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Lyases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004852[uroporphyrinogen-III synthase activity] GO:0005542[folic acid binding] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0006783[heme biosynthetic process] GO:0016829[lyase activity] GO:0033014[tetrapyrrole biosynthetic process] GO:0046677[response to antibiotic] GO:0070541[response to platinum ion] GO:0071243[cellular response to arsenic-containing substance] GO:0071418[cellular response to amine stimulus]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004852[uroporphyrinogen-III synthase activity] GO:0006779[porphyrin-containing compound biosynthetic process] GO:0006780[uroporphyrinogen III biosynthetic process] GO:0006782[protoporphyrinogen IX biosynthetic process] GO:0033014[tetrapyrrole biosynthetic process]
The Human Protein Atlas project is funded
