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

    Gene ID: 54187, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See NANS in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (98056732..98083077)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110217512..110255020)
    RS_2024_09 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. Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation. Bu Q, et al. Sci Adv, 2023 Nov 24. PMID 38000033, Free PMC Article
    2. Event-related slow brain potentials, cognitive processes, and alexithymia. Lolas F. Psychother Psychosom, 1978. PMID 693772
    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. Cloning, expression, and characterization of sialic acid synthases. Hao J, et al. Biochem Biophys Res Commun, 2005 Dec 23. PMID 16274664
    5. 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

    See all (47) 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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-9-phosphate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acylneuraminate-9-phosphate synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acylneuraminate-9-phosphate synthase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in CMP-N-acetylneuraminate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in CMP-N-acetylneuraminate biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in N-acetylneuraminate biosynthetic process IMP
    Inferred from Mutant Phenotype
    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
    		  
    involved_in glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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_2024_08

    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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