ENSG00000126088


Homo sapiens

Features
Gene ID: ENSG00000126088
  
Biological name :UROD
  
Synonyms : P06132 / UROD / uroporphyrinogen decarboxylase
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p34.1
Gene start: 45012147
Gene end: 45015575
  
Corresponding Affymetrix probe sets: 208970_s_at (Human Genome U133 Plus 2.0 Array)   208971_at (Human Genome U133 Plus 2.0 Array)   222074_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000404489
Ensembl peptide - ENSP00000490710
Ensembl peptide - ENSP00000490594
Ensembl peptide - ENSP00000246337
Ensembl peptide - ENSP00000400253
NCBI entrez gene - 7389     See in Manteia.
OMIM - 613521
RefSeq - NM_000374
RefSeq - XM_005271170
RefSeq - XM_005271169
RefSeq Peptide - NP_000365
swissprot - A0A1B0GVZ4
swissprot - P06132
swissprot - Q5T446
swissprot - H0Y5R6
swissprot - A0A1B0GVN9
Ensembl - ENSG00000126088
  
Related genetic diseases (OMIM): 176100 - Porphyria cutanea tarda, 176100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 urodENSDARG00000006818Danio rerio
 ENSGALG00000010219Gallus gallus
 UrodENSMUSG00000028684Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000257  Uroporphyrinogen decarboxylase (URO-D)
 IPR006361  Uroporphyrinogen decarboxylase HemE


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IEA
 biological_processGO:0006782 protoporphyrinogen IX biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process TAS
 biological_processGO:0042168 heme metabolic process IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0004853 uroporphyrinogen decarboxylase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016831 carboxy-lyase activity IEA


Pathways (from Reactome)
Pathway description
Heme biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000963 Thin skin 
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0001030 Fragile skin 
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 HP:0001394 Cirrhosis 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001806 Onycholysis 
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 HP:0001878 Hemolytic anemia 
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 HP:0002219 Facial hypertrichosis 
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 HP:0005586 Hyperpigmentation in sun-exposed areas 
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 HP:0100324 Scleroderma "A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000126088 UROD / P06132 / uroporphyrinogen decarboxylase  / complex






 

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