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
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Integral and associated lysosomal membrane proteins.
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Lysosomal-membrane proteomics of purified placental lysosomes identified HGSNAT among proteins residing at least partially in the lysosomal membrane.
"proteins, known to reside at least partially in the lysosomal membrane"
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
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HGSNAT is a lysosomal membrane enzyme (EC 2.3.1.78) that catalyses transmembrane acetylation of the terminal glucosamine residues of heparan sulfate prior to their hydrolysis by alpha-N-acetylglucosaminidase; its deficiency causes MPS IIIC.
"acetylation of the terminal glucosamine residues of heparan sulfate prior to"
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Recombinant wild-type HGSNAT colocalizes with the lysosomal markers LysoTracker and LAMP-2, whereas most MPS IIIC missense mutants misfold and are retained in the ER.
"almost completely co-localized with the lysosomal markers LysoTracker Red or LAMP-2"
Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.
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HGSNAT catalyzes the transmembrane acetylation of heparan sulfate in lysosomes, required for its further catabolism.
"catalyzes the transmembrane acetylation of heparan sulfate in lysosomes required"
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The precursor is trafficked to lysosomes via an adaptor-protein-mediated pathway, cleaved into alpha and beta chains, and assembled into active ~440-kDa homo-oligomers.
"assembled into active ∼440-kDa oligomers"
HGSNAT oligomer acetylates Heparan sulfate chain(3)
HGSNAT oligomer acetylates Heparan chain(1)
Defective HGSNAT does not acetylate Heparan chain(1)
Exocytosis of tertiary granule membrane proteins
Exocytosis of specific granule membrane proteins
Defective HGSNAT does not acetylate Heparan sulfate chain(3)
UniProtKB Q68CP4 (HGNAT_HUMAN) curated entry
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UniProt describes HGSNAT as a lysosomal acetyltransferase that acetylates the terminal alpha-glucosamine of intralysosomal heparin/heparan sulfate, converting it into a substrate for luminal alpha-N-acetylglucosaminidase; it is a multi-pass lysosome membrane protein and a homo-oligomer whose oligomerization is required for activity.
"Lysosomal acetyltransferase that acetylates the non-reducing"