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NANS N-acetylneuraminate synthase [ Homo sapiens (human) ]

Gene ID: 54187, updated on 3-Apr-2024

Summary

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Official Symbol
NANSprovided by HGNC
Official Full Name
N-acetylneuraminate synthaseprovided by HGNC
Primary source
HGNC:HGNC:19237
See related
Ensembl:ENSG00000095380 MIM:605202; AllianceGenome:HGNC:19237
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAS; SEMDG; SEMDCG; HEL-S-100
Summary
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]
Expression
Broad expression in colon (RPKM 65.2), prostate (RPKM 43.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9q22.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (98056732..98083077)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110217512..110255020)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100819014..100845359)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28681 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:100797789-100798988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28684 Neighboring gene RNA, U6 small nuclear 918, pseudogene Neighboring gene uncharacterized LOC124902227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28686 Neighboring gene tripartite motif containing 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100833954-100834454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100836915-100837721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100849215-100849889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100849890-100850563 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:100852934-100853493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20115 Neighboring gene coronin 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:100921913-100922413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100924760-100925260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100933363-100934198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100935871-100936704 Neighboring gene Sharpr-MPRA regulatory region 7304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100953772-100954426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100957663-100958179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100960535-100961402 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100961403-100962270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100963511-100964012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100964013-100964512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100965136-100965636 Neighboring gene TBC1 domain family member 2 Neighboring gene Sharpr-MPRA regulatory region 378 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:100984952-100986151 Neighboring gene microRNA 6854

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Solution structure of the antifreeze-like domain of human sialic acid synthase. Hamada T, et al. Protein Sci, 2006 May. PMID 16597820, Free PMC Article
  2. Cloning, expression, and characterization of sialic acid synthases. Hao J, et al. Biochem Biophys Res Commun, 2005 Dec 23. PMID 16274664
  3. 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. Lawrence SM, et al. J Biol Chem, 2000 Jun 9. PMID 10749855
  4. Event-related slow brain potentials, cognitive processes, and alexithymia. Lolas F. Psychother Psychosom, 1978. PMID 693772
  5. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. van Karnebeek CD, et al. Nat Genet, 2016 Jul. PMID 27213289

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation.
    Title: Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation.
  2. NANS deficiency is associated with defect in brain and skeletal development.
    Title: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  4. The structure of the C-terminal antifreeze-like domain of human sialic acid synthase was determined. The structure comprises one alpha- and two single-turn 3(10)-helices and two beta-strands, and is similar to those of the type III antifreeze proteins.
    Title: Solution structure of the antifreeze-like domain of human sialic acid synthase.
  5. sialic acid synthases kinetics and preliminary mutagenesis experiments reveal the importance of C-terminal antifreeze protein domain
    Title: Cloning, expression, and characterization of sialic acid synthases.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spondyloepimetaphyseal dysplasia, Genevieve type
MedGen: C1864872 OMIM: 610442 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetylneuraminate synthase activity IEA
Inferred from Electronic Annotation
more info
  
enables N-acylneuraminate cytidylyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables N-acylneuraminate-9-phosphate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acylneuraminate-9-phosphate synthase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in CMP-N-acetylneuraminate biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in carbohydrate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
sialic acid synthase
Names
N-acetylneuraminate-9-phosphate synthase
N-acetylneuraminic acid phosphate synthase
N-acetylneuraminic acid synthase
epididymis secretory protein Li 100
sialic acid phosphate synthase
NP_061819.2
XP_011517089.1
XP_011517090.1
XP_047279432.1
XP_054219089.1
XP_054219090.1
XP_054219091.1
XP_054219092.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052789.1 RefSeqGene

    Range
    5056..31401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018946.4 → NP_061819.2  sialic acid synthase

    See identical proteins and their annotated locations for NP_061819.2

    Status: REVIEWED

    Source sequence(s)
    AK316608, BQ446501
    Consensus CDS
    CCDS6733.1
    UniProtKB/Swiss-Prot
    B2RE98, Q8WUV9, Q9BWS6, Q9NR45, Q9NVD4
    UniProtKB/TrEMBL
    V9HW39
    Related
    ENSP00000210444.5, ENST00000210444.6
    Conserved Domains (2) summary
    cd11615
    Location:292 → 350
    SAF_NeuB_like; C-terminal SAF domain of sialic acid synthetase
    pfam03102
    Location:39 → 275
    NeuB; NeuB family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    98056732..98083077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518787.3 → XP_011517089.1  sialic acid synthase isoform X1

    See identical proteins and their annotated locations for XP_011517089.1

    Conserved Domains (1) summary
    cl28263
    Location:2 → 229
    SpsE; Sialic acid synthase SpsE, contains C-terminal SAF domain [Cell wall/membrane/envelope biogenesis]

  2. XM_047423476.1 → XP_047279432.1  sialic acid synthase isoform X1

  3. XM_011518788.3 → XP_011517090.1  sialic acid synthase isoform X2

    Conserved Domains (2) summary
    cd11615
    Location:167 → 225
    SAF_NeuB_like; C-terminal SAF domain of sialic acid synthetase
    cl17225
    Location:23 → 153
    DAHP_synth_1; DAHP synthetase I family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    110217512..110255020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363114.1 → XP_054219089.1  sialic acid synthase isoform X3

    UniProtKB/Swiss-Prot
    B2RE98, Q8WUV9, Q9BWS6, Q9NR45, Q9NVD4

  2. XM_054363116.1 → XP_054219091.1  sialic acid synthase isoform X1

  3. XM_054363115.1 → XP_054219090.1  sialic acid synthase isoform X1

  4. XM_054363117.1 → XP_054219092.1  sialic acid synthase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NR45.2 GenPept UniProtKB/Swiss-Prot:Q9NR45

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