ENSG00000120942


Homo sapiens

Features
Gene ID: ENSG00000120942
  
Biological name :UBIAD1
  
Synonyms : Q9Y5Z9 / UBIAD1 / UbiA prenyltransferase domain containing 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.22
Gene start: 11273206
Gene end: 11296049
  
Corresponding Affymetrix probe sets: 219131_at (Human Genome U133 Plus 2.0 Array)   229348_at (Human Genome U133 Plus 2.0 Array)   230474_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366000
Ensembl peptide - ENSP00000366006
Ensembl peptide - ENSP00000473453
Ensembl peptide - ENSP00000473612
NCBI entrez gene - 29914     See in Manteia.
OMIM - 611632
RefSeq - XM_011541304
RefSeq - NM_013319
RefSeq - XM_006710590
RefSeq Peptide - NP_001317279
RefSeq Peptide - NP_037451
swissprot - Q9Y5Z9
swissprot - R4GN21
swissprot - R4GNE3
Ensembl - ENSG00000120942
  
Related genetic diseases (OMIM): 121800 - Corneal dystrophy, Schnyder type, 121800
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
 E7FB98ENSDARG00000013009Danio rerio
 UBIAD1ENSGALG00000003358Gallus gallus
 Q9DC60ENSMUSG00000047719Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000537  UbiA prenyltransferase family
 IPR026046  UbiA prenyltransferase domain containing protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006744 ubiquinone biosynthetic process IMP
 biological_processGO:0009234 menaquinone biosynthetic process IMP
 biological_processGO:0032194 ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate IBA
 biological_processGO:0042371 vitamin K biosynthetic process IMP
 biological_processGO:0042373 vitamin K metabolic process TAS
 biological_processGO:0098869 cellular oxidant detoxification IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030173 integral component of Golgi membrane IDA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 molecular_functionGO:0004659 prenyltransferase activity EXP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016209 antioxidant activity IMP
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA


Pathways (from Reactome)
Pathway description
Metabolism of vitamin K


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:0001131 Corneal dystrophy 
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 HP:0007760 Crystalline corneal dystrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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