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

Gene ID: 54187, updated on 2-Mar-2021

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
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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See NANS in Genome Data Viewer
Location:
9q22.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (98056728..98083083)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100819014..100845359)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene acidic nuclear phosphoprotein 32 family member B Neighboring gene RNA, U6 small nuclear 918, pseudogene Neighboring gene tripartite motif containing 14 Neighboring gene coronin 2A Neighboring gene TBC1 domain family member 2 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 (29) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  3. 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.
  4. 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
N-acetylneuraminate synthase activity IEA
Inferred from Electronic Annotation
more info
  
N-acylneuraminate cytidylyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
N-acylneuraminate-9-phosphate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
N-acylneuraminate-9-phosphate synthase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
CMP-N-acetylneuraminate biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
carbohydrate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
cytosol TAS
Traceable Author Statement
more info
  
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_016870300.1
XP_024303342.1

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
    Q9NR45
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    98056728..98083083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447574.1 → XP_024303342.1  sialic acid synthase isoform X1

    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_011518787.2 → 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]

  3. XM_017014811.1 → XP_016870300.1  sialic acid synthase isoform X3

    Conserved Domains (2) summary
    cd11615
    Location:151 → 209
    SAF_NeuB_like; C-terminal SAF domain of sialic acid synthetase
    cl17225
    Location:9 → 137
    DAHP_synth_1; DAHP synthetase I family

  4. XM_011518788.2 → 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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NR45.2 GenPept UniProtKB/Swiss-Prot:Q9NR45

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