ENSG00000159063


Homo sapiens

Features
Gene ID: ENSG00000159063
  
Biological name :ALG8
  
Synonyms : ALG8 / ALG8, alpha-1,3-glucosyltransferase / Q9BVK2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q14.1
Gene start: 78100936
Gene end: 78139660
  
Corresponding Affymetrix probe sets: 203545_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000436064
Ensembl peptide - ENSP00000434066
Ensembl peptide - ENSP00000434388
Ensembl peptide - ENSP00000434660
Ensembl peptide - ENSP00000435417
Ensembl peptide - ENSP00000435467
Ensembl peptide - ENSP00000435626
Ensembl peptide - ENSP00000436366
Ensembl peptide - ENSP00000480742
Ensembl peptide - ENSP00000437199
Ensembl peptide - ENSP00000437033
Ensembl peptide - ENSP00000299626
Ensembl peptide - ENSP00000365326
Ensembl peptide - ENSP00000431357
Ensembl peptide - ENSP00000432381
Ensembl peptide - ENSP00000432953
Ensembl peptide - ENSP00000433429
NCBI entrez gene - 79053     See in Manteia.
OMIM - 608103
RefSeq - XM_011545252
RefSeq - NM_024079
RefSeq - NM_001007027
RefSeq - XM_005274247
RefSeq - XM_017018274
RefSeq Peptide - NP_001007028
RefSeq Peptide - NP_076984
swissprot - E9PP96
swissprot - E9PP80
swissprot - H0YCV0
swissprot - H0YD42
swissprot - H0YDD3
swissprot - H0YDQ1
swissprot - H0YDV4
swissprot - H0YEE0
swissprot - E9PP04
swissprot - E9PNE2
swissprot - E9PLP7
swissprot - A0A024R5K5
swissprot - Q9BVK2
swissprot - E9PKA5
swissprot - E9PK79
swissprot - E9PR58
Ensembl - ENSG00000159063
  
Related genetic diseases (OMIM): 608104 - Congenital disorder of glycosylation, type Ih, 608104
  617874 - Polycystic liver disease 3 with or without kidney cysts, 617874
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
 alg8ENSDARG00000044627Danio rerio
 ALG8ENSGALG00000019042Gallus gallus
 Alg8ENSMUSG00000035704Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR004856  Glycosyl transferase, ALG6/ALG8


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006487 protein N-linked glycosylation IMP
 biological_processGO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS
 biological_processGO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA
 biological_processGO:0097502 mannosylation IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000033 alpha-1,3-mannosyltransferase activity IMP
 molecular_functionGO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0016758 transferase activity, transferring hexosyl groups IEA
 molecular_functionGO:0042281 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA


Pathways (from Reactome)
Pathway description
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG8 causes ALG8-CDG (CDG-1h)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000091 Abnormality of the renal tubules 
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0001004 Lymphedema 
Show

 HP:0001399 Hepatic failure 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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