Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm NAS 10749855
GO:0005829 Component Cytosol TAS
GO:0006055 Process CMP-N-acetylneuraminate biosynthetic process NAS 10749855
GO:0008781 Function N-acylneuraminate cytidylyltransferase activity NAS 10749855
GO:0016051 Process Carbohydrate biosynthetic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605202 19237 ENSG00000095380
Protein
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.
  KEGG   Reactome
  Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars
  Sialic acid metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Severe intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal disorder, Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia, Geneviève type rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671 27213289
Associations from Text Mining
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