ENSG00000088035


Homo sapiens

Features
Gene ID: ENSG00000088035
  
Biological name :ALG6
  
Synonyms : ALG6 / ALG6, alpha-1,3-glucosyltransferase / Q9Y672
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p31.3
Gene start: 63367590
Gene end: 63438562
  
Corresponding Affymetrix probe sets: 219649_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360149
Ensembl peptide - ENSP00000473934
Ensembl peptide - ENSP00000473328
Ensembl peptide - ENSP00000263440
NCBI entrez gene - 29929     See in Manteia.
OMIM - 604566
RefSeq - NM_013339
RefSeq Peptide - NP_037471
swissprot - A2A2G4
swissprot - Q9Y672
swissprot - R4GMS5
swissprot - S4R350
Ensembl - ENSG00000088035
  
Related genetic diseases (OMIM): 603147 - Congenital disorder of glycosylation, type Ic, 603147
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
 alg6ENSDARG00000017617Danio rerio
 ALG6ENSGALG00000010991Gallus gallus
 Alg6ENSMUSG00000073792Mus 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 IDA
 biological_processGO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS
 biological_processGO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity TAS
 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
 molecular_functionGO:0046527 glucosyltransferase activity IDA


Pathways (from Reactome)
Pathway description
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG6 causes ALG6-CDG (CDG-1c)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001284 Areflexia 
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 HP:0001399 Hepatic failure 
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 HP:0001929 Factor XI deficiency 
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 HP:0001976 Antithrombin III deficiency 
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 HP:0003642 Abnormal isoelectric focusing of serum transferrin (type 1 pattern) 
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 HP:0008150 Elevated serum transaminases during infections "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [HPO:curators]
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 HP:0008936 Muscular hypotonia of the trunk "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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