NANS (N-acetylneuraminate synthase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54187
Gene name Gene Name - the full gene name approved by the HGNC.
N-acetylneuraminate synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NANS
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-100, SAS, SEMDCG, SEMDG
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 (
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs369033671 A>G,T Likely-pathogenic Initiator codon variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT043076 hsa-miR-324-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm NAS 10749855
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0006054 Process N-acetylneuraminate metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605202 19237 ENSG00000095380
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NR45
Protein name N-acetylneuraminate-9-phosphate synthase (EC 2.5.1.57) (3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase) (EC 2.5.1.132) (N-acetylneuraminic acid phosphate synthase) (NANS) (Sialic acid phosphate synthase) (Sialic acid synthase)
Protein function Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phospha
PDB 1WVO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03102 NeuB 39 → 278 NeuB family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10749855}.
Sequence
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars 		  Sialic acid metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia, genevieve type rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs369033671 N/A
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 33130469
HEM dysplasia Associate 33130469
Intellectual Disability Associate 36224347
N Acetylneuraminic acid storage disease Associate 36224347
Ray Peterson Scott syndrome Associate 36224347
Spondylometaepiphyseal Dysplasia Short Limb Hand Type Associate 36224347
Thyroid Neoplasms Associate 33903625
Virus Diseases Associate 35354039