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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, Camera-Genevieve Type and Fusariosis. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Synthesis of substrates in N-glycan biosythesis. 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

Additional gene information for NANS Gene

No data available for CIViC summary , 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
GH09H097979 1.7 FANTOM5 ENCODE dbSUPER 26.5 -72.9 -72872 8 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 NCBP1 ZNF782 MFSD14C NANS ZNF322P1 TSTD2 ENSG00000254633 XPA TRMO TRIM14
GH09H098034 1.1 Ensembl ENCODE 24.6 -20.4 -20432 3 RB1 ARID4B BATF RAD21 ZNF121 ZNF143 FOS ATF7 CREM IKZF2 NANS TRMO ENSG00000236896 ANP32B ENSG00000201830 TBC1D2 TSTD2 RNU6-918P
GH09H098097 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +47.4 47361 13 HDGF PKNOX1 BMI1 BATF ZNF207 ATF7 ETV6 RUNX3 CREM IKZF2 NANS ANKS6 TBC1D2 CCDC180 TRIM14 TRMO ENSG00000274011 GC09M098231 PIR57415
GH09H098070 1.4 Ensembl ENCODE dbSUPER 9 +17.1 17059 5 HDGF PKNOX1 FOXA2 RB1 YBX1 THRB RAD21 RARA ZNF121 ZNF366 TRIM14 TBC1D2 RNU6-918P CORO2A TSTD2 HEMGN NANS PIR35853 GC09M098235 GC09M098238
GH09H098055 1.3 ENCODE dbSUPER 9.6 +0.4 410 2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 SP3 NCBP1 TSTD2 NANS TRIM14 GC09M098235 GC09M098238 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
ENSR00000238585 423 1801 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 SP5

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 Lys290
  • 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

Gene Families for NANS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NANS Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Phenotypes From GWAS Catalog 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

Human Phenotype Ontology for NANS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for NANS

CRISPR Products

miRNA for NANS Gene

miRTarBase miRNAs that target NANS

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NANS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for 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

Subcellular locations from the

Human Protein Atlas (HPA)

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,IEA --
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:0006055 CMP-N-acetylneuraminate 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

(6) 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
Aceneuramic acid Investigational Pharma 0
N-acetylmannosamine Investigational Pharma 0

(6) 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-Acetylneuraminate 9-phosphate
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
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NANS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for NANS Gene

  • Lung(4.4)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with NANS: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NANS Gene

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 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia NANS 33 34
  • 92.48 (n)
cow
(Bos Taurus)
Mammalia NANS 34 33
  • 92.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nans 33
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Nans 16 34 33
  • 88.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NANS 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NANS 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves NANS 33 34
  • 80.63 (n)
lizard
(Anolis carolinensis)
Reptilia NANS 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nans 33
  • 72.25 (n)
Str.6775 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12473 33
zebrafish
(Danio rerio)
Actinopterygii nans 33 34
  • 73.72 (n)
NANS (1 of 2) 34
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sas 34 33
  • 54.45 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004460 33
  • 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 Pathogenic, Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] 98,078,196(+) AGGTC(A/G/T)CCCAA intron-variant, downstream-variant-500B, reference, missense
rs878852980 Pathogenic, Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] 98,076,967(+) AGTTG(G/T)ATCTG intron-variant, reference, missense, utr-variant-5-prime
rs878852981 Pathogenic, Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] 98,078,306(+) GCGCA(C/T)ACCCG intron-variant, reference, missense, utr-variant-3-prime
rs878852982 Pathogenic, Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] 98,080,921(+) TGGAA(C/T)GTCAC intron-variant, reference, missense
VAR_076571 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]

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

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

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

(4) MalaCards diseases for NANS Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, camera-genevieve type
  • spondyloepimetaphyseal dysplasia genevieve type
fusariosis
  • fusarium infection
hard palate cancer
  • hard palate
cleft palate, isolated
  • isolated cleft 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 SM … Betenbaugh MJ (The Journal of biological chemistry 2000) 2 3 4 22 60
  2. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. (PMID: 27213289) van Karnebeek CD … Superti-Furga A (Nature genetics 2016) 2 3 4 60
  3. Solution structure of the antifreeze-like domain of human sialic acid synthase. (PMID: 16597820) Hamada T … Hirota H (Protein science : a publication of the Protein Society 2006) 3 4 22 60
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 45 60
  5. Cloning, expression, and characterization of sialic acid synthases. (PMID: 16274664) Hao J … Sundaramoorthy M (Biochemical and biophysical research communications 2005) 3 22 60

Products for NANS Gene

Sources for NANS Gene

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