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
Defining the membrane proteome of NK cells.
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
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Deficiency of human ALG11 (GDP-Man:Man3GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase) causes CDG-Ip; patient fibroblasts accumulate Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol and are deficient in elongating Man3GlcNAc2-PP-dolichol.
"accumulation of Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol"
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The homozygous p.L86S variant reduces enzyme activity without altering ER localization; causality confirmed by rescue with WT hALG11 and yeast alg11-delta complementation.
"indicating no mislocalization or"
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Defective ALG11 does not transfer Man to the N-glycan precursor
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ALG11 transfers the fourth and fifth mannoses to the N-glycan precursor in an alpha-1,2 orientation, the last two additions on the cytosolic side of the ER membrane before the glycan is flipped to the ER lumen.
"transfers the fourth and fifth mannoses (Man) to the N-glycan precursor in an alpha-1,2 orientation"