Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Combined Automated Annotation using Multiple IEA Methods
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Defining the membrane proteome of NK cells.
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1
ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1
Defective ALG9 does not add the seventh mannose to the N-glycan precursor
Defective ALG9 does not add the last mannose to the N-glycan precursor
UniProtKB entry Q9H6U8 (ALG9_HUMAN), Alpha-1,2-mannosyltransferase ALG9
Structures of ALG3/9/12 reveal the assembly logic of the N-glycan oligomannose core.
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Purified human ALG9 isoform 1 catalyzes both lipid-linked acceptor reactions; synthetic Dol25 substrates isolate the two transfer steps.
"Assays with Dol25-PP-GlcNAc2Man6 or Dol25-PP-GlcNAc2Man8 acceptor substrates confirmed the dual activity of ALG9 in vitro (Fig. 1d,f)."
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The human ALG9 structure contains 11 transmembrane helices.
"ALG9 and ALG12 are classified as GT-22 enzymes. They contain 11 TM helices and a cytosolic N terminus."
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
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The severe skeletal-dysplasia phenotype is associated with disrupted ALG9 splicing and deficient glycosylation in human fetal samples.
"Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a congenital disorder of glycosylation (CDG)."
A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.
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The initial study leaves a general bipolar-susceptibility role unconfirmed.
"However, its role in the disease susceptibility remains unconfirmed."
Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.
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The tested common marker alleles did not show significant transmission disequilibrium.
"None of the common alleles of the five markers yielded statistically significant evidence for transmission disequilibrium."
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The negative association result is limited by the sampled pedigrees and markers.
"Nevertheless, we cannot rule out a role for ALG9 in BPAD susceptibility because of the limitations of the markers and the pedigrees analyzed here."