Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | UROS | contributors: SGE/npt - updated : 09-03-2010 |
HGNC name | uroporphyrinogen III synthase |
HGNC id | 12592 |
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Corresponding disease |
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Location | 10q26.2 Physical location : 127.477.147 - 127.511.837 | ||
Synonym name | |||
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Synonym symbol(s) | UROIIIS | ||
EC.number | 4.2.1.75 |
DNA |
TYPE | functioning gene |
STRUCTURE | 34.69 kb 10 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | alternative promoter |
Binding site | |
text structure | specific GATA1 and NF-E2 sites for the erythroid form |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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mono polymer | monomer |
HOMOLOGY |
interspecies | homolog to murine Uros (77.7pc) |
homolog to rattus Uros (77.7pc) |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,cytosolic |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | porphyrin/heme |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
repressed by | hypoxia (Vargas 2008) |
ASSOCIATED DISORDERS |
corresponding disease(s) | CEP |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
Heterozygous mice for P248Q mutation appeared normal, but homozygous mutant mice were hypotrophic at birth and produced red urine and showed erythrodontia in the first weeks of life. Homozygous mutant mice also showed photosensitivity and hepatosplenomegaly, and uroporphyrin accumulated in urine (Ged 2006) |