Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NANS Gene

Aliases for NANS Gene

  • N-Acetylneuraminate Synthase 2 3 4 5
  • N-Acetylneuraminic Acid Synthase 2 3 4
  • N-Acetylneuraminic Acid Phosphate Synthase 3 4
  • N-Acetylneuraminate-9-Phosphate Synthase 3 4
  • Sialic Acid Synthase 2 3
  • SAS 3 4
  • Epididymis Secretory Protein Li 100 3
  • Sialic Acid Phosphate Synthase 3
  • EC 2.5.1.56 4
  • EC 2.5.1.57 4
  • HEL-S-100 3
  • SEMDCG 3
  • SEMDG 3

External Ids for NANS Gene

Previous GeneCards Identifiers for NANS Gene

  • GC09P092562
  • GC09P094276
  • GC09P096198
  • GC09P097898
  • GC09P099858
  • GC09P100818
  • GC09P070419

Summaries for NANS Gene

Entrez Gene Summary for NANS 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 (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]

GeneCards Summary for NANS Gene

NANS (N-Acetylneuraminate Synthase) is a Protein Coding gene. Diseases associated with NANS include Spondyloepimetaphyseal Dysplasia, Genevieve Type and Fusariosis. Among its related pathways are Transport to the Golgi and subsequent modification and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include N-acylneuraminate cytidylyltransferase activity and N-acetylneuraminate synthase activity.

UniProtKB/Swiss-Prot for NANS Gene

  • 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.

Gene Wiki entry for NANS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NANS Gene

Genomics for NANS Gene

Regulatory Elements for NANS Gene

Enhancers for NANS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F097979 1.4 FANTOM5 ENCODE 26.5 -72.9 -72872 8.3 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 NANS TRMO TRIM14 ANP32B LOC101928408
GH09F098034 1.1 Ensembl ENCODE 24.6 -20.4 -20432 3.5 ARID4B RAD21 ZNF121 ZNF143 FOS CREM EGR2 ZNF263 ZNF654 HCFC1 NANS TRMO LOC101928408 ANP32B ENSG00000201830 TBC1D2 TSTD2 RNU6-918P
GH09F098044 1.2 Ensembl ENCODE 18.6 -10.2 -10240 3.5 HDGF PKNOX1 ATF1 ARID4B DMAP1 ELK1 GATA2 CBX5 NFYC CREB3 NANS LOC101928408 ANP32B TBC1D2 TRIM14 COL15A1 RNU6-918P
GH09F098097 1.4 FANTOM5 Ensembl ENCODE 14.9 +47.4 47361 13.3 HDGF TBP PKNOX1 WRNIP1 BMI1 ZNF207 ETV6 FOS CREM CBFB NANS TBC1D2 TRIM14 TRMO ENSG00000274011 GC09M098194 PIR57415
GH09F098070 1.2 Ensembl ENCODE 9 +17.1 17059 5.7 HDGF PKNOX1 YBX1 THRB RAD21 RARA KAT2B ZNF121 ZNF366 ZNF143 TRIM14 TBC1D2 RNU6-918P CORO2A HEMGN NANS GC09M098199 GC09M098202 PIR35853
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NANS on UCSC Golden Path with GeneCards custom track

Promoters for NANS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001309607 423 2201 ATF1 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 BRCA1 YY1

Genomic Location for NANS Gene

Chromosome:
9
Start:
98,056,677 bp from pter
End:
98,083,083 bp from pter
Size:
26,407 bases
Orientation:
Plus strand

Genomic View for NANS Gene

Genes around NANS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NANS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NANS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NANS Gene

Proteins for NANS Gene

  • Protein details for NANS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR45-SIAS_HUMAN
    Recommended name:
    Sialic acid synthase
    Protein Accession:
    Q9NR45
    Secondary Accessions:
    • B2RE98
    • Q8WUV9
    • Q9BWS6
    • Q9NVD4

    Protein attributes for NANS Gene

    Size:
    359 amino acids
    Molecular mass:
    40308 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NANS Gene

neXtProt entry for NANS Gene

Post-translational modifications for NANS Gene

  • Ubiquitination at Lys 290
  • Modification sites at PhosphoSitePlus

Other Protein References for NANS Gene

No data available for DME Specific Peptides for NANS Gene

Domains & Families for NANS Gene

Suggested Antigen Peptide Sequences for NANS Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR45

UniProtKB/Swiss-Prot:

SIAS_HUMAN :
  • Contains 1 AFP-like domain.
Domain:
  • Contains 1 AFP-like domain.
genes like me logo Genes that share domains with NANS: view

No data available for Gene Families for NANS Gene

Function for NANS Gene

Molecular function for NANS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Phosphoenolpyruvate + N-acetyl-D-mannosamine + H(2)O = phosphate + N-acetylneuraminate.
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphoenolpyruvate + N-acyl-D-mannosamine 6-phosphate + H(2)O = N-acylneuraminate 9-phosphate + phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NANS Gene

Gene Ontology (GO) - Molecular Function for NANS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008781 N-acylneuraminate cytidylyltransferase activity NAS 10749855
GO:0016740 transferase activity IEA --
GO:0047444 N-acylneuraminate-9-phosphate synthase activity TAS --
GO:0050462 N-acetylneuraminate synthase activity IEA --
genes like me logo Genes that share ontologies with NANS: view
genes like me logo Genes that share phenotypes with NANS: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NANS

miRNA for NANS Gene

miRTarBase miRNAs that target NANS

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NANS Gene

Localization for NANS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NANS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NANS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 10749855
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NANS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NANS Gene

Pathways & Interactions for NANS Gene

genes like me logo Genes that share pathways with NANS: view

Gene Ontology (GO) - Biological Process for NANS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009103 lipopolysaccharide biosynthetic process NAS 10749855
GO:0016051 carbohydrate biosynthetic process IEA --
genes like me logo Genes that share ontologies with NANS: view

No data available for SIGNOR curated interactions for NANS Gene

Drugs & Compounds for NANS Gene

(3) Drugs for NANS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
phosphoenolpyruvate Experimental Pharma 0

(9) Additional Compounds for NANS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
  • N-Acetyl-D-mannosamine 6-phosphate
  • N-Acetyl-D-mannosamine-6-P
  • N-Acetyl-D-mannosamine-6-phosphate
  • N-Acetylmannosamine-6-P
873185-52-5
N-Acetylmannosamine
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
3615-17-6
N-Acetylneuraminate 9-phosphate
N-Acetylneuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-delta-glycero-beta-delta-galacto-2-Nonulopyranosonate
131-48-6
N-Acetylneuraminic acid 9-phosphate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid 9-(dihydrogen phosphate)
  • N-Acetyl- 9-(dihydrogen phosphate)-Neuraminic acid
  • N-Acetyl-Neuraminic acid-9-phosphate
37992-17-9
genes like me logo Genes that share compounds with NANS: view

Transcripts for NANS Gene

Unigene Clusters for NANS Gene

N-acetylneuraminic acid synthase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NANS Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - - - - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7: - - - - - - - - - - -
SP8: -
SP9:

Relevant External Links for NANS Gene

GeneLoc Exon Structure for
NANS
ECgene alternative splicing isoforms for
NANS

Expression for NANS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NANS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NANS Gene

This gene is overexpressed in Colon - Transverse (x4.6).

Protein differential expression in normal tissues from HIPED for NANS Gene

This gene is overexpressed in Salivary gland (9.7), Oral epithelium (7.4), and Nasal epithelium (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NANS Gene



Protein tissue co-expression partners for NANS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NANS Gene:

NANS

SOURCE GeneReport for Unigene cluster for NANS Gene:

Hs.522310

mRNA Expression by UniProt/SwissProt for NANS Gene:

Q9NR45-SIAS_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with NANS: view

Orthologs for NANS Gene

This gene was present in the common ancestor of animals.

Orthologs for NANS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NANS 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia NANS 34 35
  • 92.48 (n)
cow
(Bos Taurus)
Mammalia NANS 34 35
  • 92.2 (n)
rat
(Rattus norvegicus)
Mammalia Nans 34
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Nans 34 16 35
  • 88.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NANS 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NANS 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves NANS 34 35
  • 80.63 (n)
lizard
(Anolis carolinensis)
Reptilia NANS 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nans 34
  • 72.25 (n)
Str.6775 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12473 34
zebrafish
(Danio rerio)
Actinopterygii nans 34 35
  • 73.72 (n)
NANS (1 of 2) 35
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sas 34 35
  • 54.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004460 34
  • 52.69 (n)
Species where no ortholog for NANS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NANS Gene

ENSEMBL:
Gene Tree for NANS (if available)
TreeFam:
Gene Tree for NANS (if available)

Paralogs for NANS Gene

No data available for Paralogs for NANS Gene

Variants for NANS Gene

Sequence variations from dbSNP and Humsavar for NANS Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs140402727 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442], Pathogenic 98,078,196(+) AGGTC(A/G/T)CCCAA intron-variant, downstream-variant-500B, reference, missense
VAR_076571 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
VAR_076572 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
VAR_076574 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
VAR_076575 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]

Structural Variations from Database of Genomic Variants (DGV) for NANS Gene

Variant ID Type Subtype PubMed ID
nsv6628 CNV insertion 18451855
esv3621201 CNV gain 21293372
dgv1495e214 CNV loss 21293372

Variation tolerance for NANS Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.64; 82.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NANS Gene

Human Gene Mutation Database (HGMD)
NANS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NANS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NANS Gene

Disorders for NANS Gene

MalaCards: The human disease database

(3) MalaCards diseases for NANS Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, genevieve type
  • spondyloepimetaphyseal dysplasia genevieve type
fusariosis
  • fusarium infection
hard palate cancer
  • hard palate
- elite association - COSMIC cancer census association via MalaCards
Search NANS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SIAS_HUMAN
  • Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]: An autosomal recessive disorder characterized by global developmental delay with infantile onset, mental retardation, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones. {ECO:0000269 PubMed:27213289}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NANS

Genetic Association Database (GAD)
NANS
Human Genome Epidemiology (HuGE) Navigator
NANS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NANS
genes like me logo Genes that share disorders with NANS: view

No data available for Genatlas for NANS Gene

Publications for NANS Gene

  1. 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. (PMID: 10749855) Lawrence S.M. … Betenbaugh M.J. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. (PMID: 27213289) van Karnebeek C.D. … Superti-Furga A. (Nat. Genet. 2016) 2 3 4 64
  3. Solution structure of the antifreeze-like domain of human sialic acid synthase. (PMID: 16597820) Hamada T. … Hirota H. (Protein Sci. 2006) 3 4 22 64
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  5. Cloning, expression, and characterization of sialic acid synthases. (PMID: 16274664) Hao J. … Sundaramoorthy M. (Biochem. Biophys. Res. Commun. 2005) 3 22 64

Products for NANS Gene

Sources for NANS Gene

Content
Loading form....