ENSG00000172339


Homo sapiens

Features
Gene ID: ENSG00000172339
  
Biological name :ALG14
  
Synonyms : ALG14 / ALG14, UDP-N-acetylglucosaminyltransferase subunit / Q96F25
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p21.3
Gene start: 94974407
Gene end: 95072945
  
Corresponding Affymetrix probe sets: 1553954_at (Human Genome U133 Plus 2.0 Array)   228871_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359224
NCBI entrez gene - 199857     See in Manteia.
OMIM - 612866
RefSeq - XM_011540897
RefSeq - NM_001305242
RefSeq - NM_144988
RefSeq Peptide - NP_659425
RefSeq Peptide - NP_001292171
swissprot - Q96F25
Ensembl - ENSG00000172339
  
Related genetic diseases (OMIM): 616227 - ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
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
 alg14ENSDARG00000103093Danio rerio
 ALG14ENSGALG00000005583Gallus gallus
 Alg14ENSMUSG00000039887Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR013969  Oligosaccharide biosynthesis protein Alg14-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 molecular_functionGO:0004577 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity TAS


Pathways (from Reactome)
Pathway description
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)


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:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0002359 Frequent falls 
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 HP:0002828 Multiple joint contractures 
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 HP:0003403 EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation 
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 HP:0003473 Mild-moderate fatigable weakness of limb muscles 
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 HP:0030205 Increased jitter at single fibre EMG "The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). " [pmid:21654930, UK:rheller]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101901 ALG13 / Q9NP73 / ALG13, UDP-N-acetylglucosaminyltransferase subunit  / complex






 

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