Gene Ontology annotation through association of InterPro records with GO terms
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
An in vitro assay for enzymatic studies on human ALG13/14 heterodimeric UDP-N-acetylglucosamine transferase.
ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP
Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP
UniProtKB entry Q9NP73 (ALG13_HUMAN)
OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis.
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The tested ALG13 preparation was inactive against the diubiquitin panel; intact predicted OTU catalytic residues do not establish a physiological deubiquitinase role.
"ALG13, unphosphorylated OTUD5, and OTUD6B were inactive in this assay (group IV) despite being modified by Ub suicide probes (Figures 1E, S1A, and S1B)."
De novo mutations in epileptic encephalopathies.
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.