ENSG00000101346


Homo sapiens

Features
Gene ID: ENSG00000101346
  
Biological name :POFUT1
  
Synonyms : POFUT1 / protein O-fucosyltransferase 1 / Q9H488
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q11.21
Gene start: 32207880
Gene end: 32238667
  
Corresponding Affymetrix probe sets: 210433_at (Human Genome U133 Plus 2.0 Array)   212349_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364882
Ensembl peptide - ENSP00000364902
NCBI entrez gene - 23509     See in Manteia.
OMIM - 607491
RefSeq - NM_015352
RefSeq - NM_172236
RefSeq Peptide - NP_056167
RefSeq Peptide - NP_758436
swissprot - Q9H488
Ensembl - ENSG00000101346
  
Related genetic diseases (OMIM): 615327 - Dowling-Degos disease 2, 615327
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
 pofut1ENSDARG00000008953Danio rerio
 POFUT1ENSGALG00000006594Gallus gallus
 Pofut1ENSMUSG00000046020Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR019378  GDP-fucose protein O-fucosyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006004 fucose metabolic process IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated NAS
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006493 protein O-linked glycosylation IDA
 biological_processGO:0007219 Notch signaling pathway NAS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008593 regulation of Notch signaling pathway IMP
 biological_processGO:0016266 O-glycan processing TAS
 biological_processGO:0036066 protein O-linked fucosylation IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0016020 membrane IDA
 molecular_functionGO:0008417 fucosyltransferase activity IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0046922 peptide-O-fucosyltransferase activity TAS


Pathways (from Reactome)
Pathway description
Pre-NOTCH Processing in the Endoplasmic Reticulum


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:0007502 Follicular hyperkeratosis 
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 HP:0007588 Reticular hyperpigmentation 
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 HP:0009719 Hypomelanotic macules "Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [HPO:curators]
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 HP:0045059 Hyperkeratotic papule "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically)." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000074181 NOTCH3 / Q9UM47  / reaction
 ENSG00000204301 NOTCH4 / Q99466  / reaction
 ENSG00000134250 NOTCH2 / Q04721  / reaction
 ENSG00000148400 NOTCH1 / P46531  / reaction






 

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