Human Gene NANS (ENST00000210444.6) from GENCODE V44
  Description: Homo sapiens N-acetylneuraminate synthase (NANS), mRNA. (from RefSeq NM_018946)
RefSeq Summary (NM_018946): 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].
Gencode Transcript: ENST00000210444.6
Gencode Gene: ENSG00000095380.11
Transcript (Including UTRs)
   Position: hg38 chr9:98,056,732-98,083,077 Size: 26,346 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr9:98,056,809-98,083,055 Size: 26,247 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:98,056,732-98,083,077)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SIAS_HUMAN
DESCRIPTION: RecName: Full=Sialic acid synthase; AltName: Full=N-acetylneuraminate synthase; EC=2.5.1.56; AltName: Full=N-acetylneuraminate-9-phosphate synthase; EC=2.5.1.57; AltName: Full=N-acetylneuraminic acid phosphate synthase; AltName: Full=N-acetylneuraminic acid synthase;
FUNCTION: Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3- deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N- acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively.
CATALYTIC ACTIVITY: Phosphoenolpyruvate + N-acetyl-D-mannosamine + H(2)O = phosphate + N-acetylneuraminate.
CATALYTIC ACTIVITY: Phosphoenolpyruvate + N-acyl-D-mannosamine 6- phosphate + H(2)O = N-acylneuraminate 9-phosphate + phosphate.
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Contains 1 AFP-like domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NANS
Diseases sorted by gene-association score: spondyloepimetaphyseal dysplasia, camera-genevieve type* (1550), fusariosis (16), hard palate cancer (12), cleft palate, isolated (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.84 RPKM in Colon - Transverse
Total median expression: 327.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.4077-0.447 Picture PostScript Text
3' UTR 0.00220.000 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006190 - AFP_Neu5c_C
IPR013785 - Aldolase_TIM
IPR006013 - Antifreeze_III
IPR013132 - Neu5Ac_N
IPR013974 - SAF

Pfam Domains:
PF03102 - NeuB family
PF08666 - SAF domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1WVO - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9NR45
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0008781 N-acylneuraminate cytidylyltransferase activity
GO:0016740 transferase activity
GO:0047444 N-acylneuraminate-9-phosphate synthase activity
GO:0050462 N-acetylneuraminate synthase activity

Biological Process:
GO:0006055 CMP-N-acetylneuraminate biosynthetic process
GO:0016051 carbohydrate biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK316608 - Homo sapiens cDNA, FLJ96858, Homo sapiens N-acetylneuraminic acid synthase (sialic acid synthase) (NANS), mRNA.
BC000008 - Homo sapiens N-acetylneuraminic acid synthase, mRNA (cDNA clone MGC:934 IMAGE:3505324), complete cds.
AK001659 - Homo sapiens cDNA FLJ10797 fis, clone NT2RP4000657, weakly similar to SPORE COAT POLYSACCHARIDE BIOSYNTHESIS PROTEIN SPSE.
BC019315 - Homo sapiens N-acetylneuraminic acid synthase, mRNA (cDNA clone MGC:4339 IMAGE:2821389), complete cds.
DL492566 - Novel nucleic acids.
CU676426 - Synthetic construct Homo sapiens gateway clone IMAGE:100019080 5' read NANS mRNA.
DQ895361 - Synthetic construct Homo sapiens clone IMAGE:100009821; FLH183626.01L; RZPDo839E10141D N-acetylneuraminic acid synthase (sialic acid synthase) (NANS) gene, encodes complete protein.
DQ892167 - Synthetic construct clone IMAGE:100004797; FLH183630.01X; RZPDo839E10142D N-acetylneuraminic acid synthase (sialic acid synthase) (NANS) gene, encodes complete protein.
AF257466 - Homo sapiens N-acetylneuraminic acid phosphate synthase mRNA, complete cds.
FJ224349 - Homo sapiens epididymis secretory protein Li 100 (HEL-S-100) mRNA, complete cds.
KJ898970 - Synthetic construct Homo sapiens clone ccsbBroadEn_08364 NANS gene, encodes complete protein.
LF385384 - JP 2014500723-A/192887: Polycomb-Associated Non-Coding RNAs.
MA620961 - JP 2018138019-A/192887: Polycomb-Associated Non-Coding RNAs.
AK091184 - Homo sapiens cDNA FLJ33865 fis, clone CTONG2006515, highly similar to N-acetylneuraminic acid phosphate synthase.
AF161387 - Homo sapiens HSPC269 mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00520 - Amino sugar and nucleotide sugar metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6138 - CMP-N-acetylneuraminate biosynthesis I (eukaryotes)

Reactome (by CSHL, EBI, and GO)

Protein Q9NR45 (Reactome details) participates in the following event(s):

R-HSA-4084976 NANS converts ManNAc-6-P to Neu5Ac-9-P
R-HSA-4085001 Sialic acid metabolism
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RE98, ENST00000210444.1, ENST00000210444.2, ENST00000210444.3, ENST00000210444.4, ENST00000210444.5, NM_018946, Q8WUV9, Q9BWS6, Q9NR45, Q9NVD4, SAS, SIAS_HUMAN, uc004ayc.1, uc004ayc.2, uc004ayc.3, uc004ayc.4, uc004ayc.5
UCSC ID: ENST00000210444.6
RefSeq Accession: NM_018946
Protein: Q9NR45 (aka SIAS_HUMAN)
CCDS: CCDS6733.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.