ENSG00000163389


Homo sapiens

Features
Gene ID: ENSG00000163389
  
Biological name :POGLUT1
  
Synonyms : POGLUT1 / protein O-glucosyltransferase 1 / Q8NBL1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q13.33
Gene start: 119468938
Gene end: 119494708
  
Corresponding Affymetrix probe sets: 218587_s_at (Human Genome U133 Plus 2.0 Array)   222681_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000295588
Ensembl peptide - ENSP00000419865
Ensembl peptide - ENSP00000419876
Ensembl peptide - ENSP00000420594
Ensembl peptide - ENSP00000419288
NCBI entrez gene - 56983     See in Manteia.
OMIM - 615618
RefSeq - XM_017006880
RefSeq - NM_152305
RefSeq - XM_006713705
RefSeq - XM_017006878
RefSeq - XM_017006879
RefSeq Peptide - NP_689518
swissprot - Q8NBL1
swissprot - F8WDC4
swissprot - F8WEW4
swissprot - H7C5H0
swissprot - B4DVA9
Ensembl - ENSG00000163389
  
Related genetic diseases (OMIM): 615696 - Dowling-Degos disease 4, 615696
  617232 - ?Muscular dystrophy, limb-girdle, type 2Z, 617232
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
 poglut1ENSDARG00000053463Danio rerio
 POGLUT1ENSGALG00000015480Gallus gallus
 Q8BYB9ENSMUSG00000034064Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KDELC1 / Q6UW63 / KDEL motif containing 1ENSG0000013490128
KDELC2 / Q7Z4H8 / KDEL motif containing 2ENSG0000017820227


Protein motifs (from Interpro)
Interpro ID Name
 IPR006598  Lipopolysaccharide-modifying protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006493 protein O-linked glycosylation IDA
 biological_processGO:0006664 glycolipid metabolic process IBA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007369 gastrulation IEA
 biological_processGO:0008593 regulation of Notch signaling pathway IEA
 biological_processGO:0010470 regulation of gastrulation IEA
 biological_processGO:0018242 protein O-linked glycosylation via serine IEA
 biological_processGO:0045747 positive regulation of Notch signaling pathway IEA
 biological_processGO:0048318 axial mesoderm development IEA
 biological_processGO:0048339 paraxial mesoderm development IEA
 biological_processGO:0060537 muscle tissue development IMP
 biological_processGO:0072358 cardiovascular system development IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0030158 protein xylosyltransferase activity IEA
 molecular_functionGO:0035251 UDP-glucosyltransferase activity IMP
 molecular_functionGO:0035252 UDP-xylosyltransferase activity IEA
 molecular_functionGO:0046527 glucosyltransferase activity IDA


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:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003677 Slow progression 
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 HP:0003691 Scapular winging 
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 HP:0008994 Proximal muscle weakness in lower limbs "A lack of strength of the proximal muscles of the legs." [HPO:curators]
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 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000148400 NOTCH1 / P46531  / reaction






 

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