Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on curation of immunofluorescence data
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy-D-glycero- D-galacto-nononic acid biosynthetic ability.
-
The human enzyme uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates in vitro to generate phosphorylated forms of Neu5Ac and KDN respectively, with much higher activity toward the Neu5Ac-9-phosphate product; it partially restores sialic acid synthase activity in a neuB-negative E. coli mutant.
"In vitro the human enzyme uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively, but exhibits much higher activity toward the Neu5Ac phosphate product."
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
-
High-throughput shotgun proteomics of urinary expressed-prostatic-secretion exosomes detected ~900 proteins; NANS is one of many abundant cytosolic proteins reported in this exosome dataset, not a functional localization claim.
"In pooled EPS-urine exosome samples, ~900 proteins were detected."
Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.
-
Knockout of NANS (sialic acid synthase) in human cell lines reduced cell-surface sialylation and dramatically reduced CMP-sialic acid, placing NANS in the five-step de novo CMP-sialic acid biosynthetic pathway.
"Sialylation of cell surface glycans was reduced by KO of GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase), NANS (sialic acid synthase) and CMAS (N-acylneuraminate cytidylyltransferase) genes"
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
-
Biallelic NANS variants cause an autosomal recessive spondyloepimetaphyseal dysplasia (Genevieve type / NANS deficiency) with developmental delay, intellectual disability and skeletal dysplasia; NANS-mediated sialic acid synthesis is required for brain and skeletal development (as summarized in UniProt Q9NR45 FUNCTION and DISEASE).
NANS converts ManNAc-6-P to Neu5Ac-9-P
-
Reactome reaction: sialic acid synthase NANS converts N-acetylmannosamine 6-phosphate to N-acetylneuraminate 9-phosphate.
"Sialic acid synthase (NANS, SAS) can convert N-acetylmannosamine 6-phosphate (ManNAc-6-P) to N-acetylneuraminate 9-phosphate (Neu5Ac-9-P) (Lawrence et al. 2000)."