NANS Gene Summary [Human]

This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
NANS
Official Name
N-acetylneuraminate synthase [Source:HGNC Symbol;Acc:HGNC:19237]
Ensembl ID
ENSG00000095380
Bio databases IDs NCBI: 54187 Ensembl: ENSG00000095380
Aliases N-acetylneuraminate synthase, sialic acid synthase
Synonyms 4632418E04Rik, BB056474, HEL-S-100, N-acetylneuraminate synthase, N-acetylneuraminic acid synthase (sialic acid synthase), SAS, SEMDCG, SEMDG, Sialic Acid Synthase
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NANS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SAF domain
  • Domains similar to fish antifreeze type III protein
  • This domain family includes a range of different proteins
  • N-acylneuraminate-9-phosphate synthase
  • DAHP synthetase I family
  • enzyme

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Genevieve type spondyloepimetaphyseal dysplasia
  • preeclampsia
  • breast cancer
  • infection by Enterovirus D68
regulated by
regulates
  • N-acetylneuraminic acid
  • 3-deoxyglycero-galacto-nonulosonic acid
  • NANS
  • Myelin
  • CMP-sialic acid
role in cell
  • phagocytosis by
  • phagocytosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NANS gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • glycosylation
  • carbohydrate biosynthetic process
  • CMP-N-acetylneuraminate biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • N-acylneuraminate-9-phosphate synthase activity
  • N-acylneuraminate cytidylyltransferase activity
  • N-acetylneuraminate synthase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.