NANS

Protein identityUniProt · HPA

UniProt accession

Q9NR45

Gene

NANS

Ensembl

ENSG00000095380

Chromosome

9

Canonical length

359 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>Q9NR45|NANS
     1  MPLELELCPG RWVGGQHPCF IIAEIGQNHQ GDLDVAKRMI RMAKECGADC AKFQKSELEF
    61  KFNRKALERP YTSKHSWGKT YGEHKRHLEF SHDQYRELQR YAEEVGIFFT ASGMDEMAVE
   121  FLHELNVPFF KVGSGDTNNF PYLEKTAKKG RPMVISSGMQ SMDTMKQVYQ IVKPLNPNFC
   181  FLQCTSAYPL QPEDVNLRVI SEYQKLFPDI PIGYSGHETG IAISVAAVAL GAKVLERHIT
   241  LDKTWKGSDH SASLEPGELA ELVRSVRLVE RALGSPTKQL LPCEMACNEK LGKSVVAKVK
   301  IPEGTILTMD MLTVKVGEPK GYPPEDIFNL VGKKVLVTVE EDDTIMEELV DNHGKKIKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NANS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

126 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NANS.

Disease | AllUniProt

Conditions NANS is implicated in, by any mechanism.

• Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) MIM:610442

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 207 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondyloepimetaphyseal dysplasia, Genevieve type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbohydrate biosynthetic process
• CMP-N-acetylneuraminate biosynthetic process
• N-acetylneuraminate biosynthetic process

Molecular functions

• N-acylneuraminate-9-phosphate synthase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Aldolase-type TIM barrel
• Antifreeze, type III
• Antifreeze-like/N-acetylneuraminic acid synthase, SAF domain
• PseI/NeuA/B-like
• SAF domain
• Antifreeze-like/N-acetylneuraminic acid synthase C-terminal domain superfamily
• PseI/Nans/NeuA/B acid synthases
• PseI/NeuA/NeuB, SAF domain
• NeuB family
• SAF domain

KeywordsUniProt

• Acetylation
• Dwarfism
• Intellectual disability
• Phosphoprotein
• Transferase