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Protein

Sialic acid synthase

Gene

NANS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 activityi

Phosphoenolpyruvate + N-acetyl-D-mannosamine + H2O = phosphate + N-acetylneuraminate.
Phosphoenolpyruvate + N-acyl-D-mannosamine 6-phosphate + H2O = N-acylneuraminate 9-phosphate + phosphate.

GO - Molecular functioni

GO - Biological processi

  • carbohydrate biosynthetic process Source: InterPro
  • CMP-N-acetylneuraminate biosynthetic process Source: UniProtKB

Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

BioCyciMetaCyc:HS01818-MONOMER
BRENDAi2.5.1.57 2681
ReactomeiR-HSA-4085001 Sialic acid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Sialic acid synthase
Alternative name(s):
N-acetylneuraminate synthase (EC:2.5.1.56)
N-acetylneuraminate-9-phosphate synthase (EC:2.5.1.57)
N-acetylneuraminic acid phosphate synthase
N-acetylneuraminic acid synthase
Gene namesi
Name:NANS
Synonyms:SAS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000095380.10
HGNCiHGNC:19237 NANS
MIMi605202 gene
neXtProtiNX_Q9NR45

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:610442
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07657129H → N in SEMDG. 1 Publication1
Natural variantiVAR_076572133G → V in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs878852980EnsemblClinVar.1
Natural variantiVAR_076573151R → H in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs140402727EnsemblClinVar.1
Natural variantiVAR_076574188Y → H in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs878852981EnsemblClinVar.1
Natural variantiVAR_076575189P → L in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs1024025721Ensembl.1
Natural variantiVAR_076576237R → C in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs878852982EnsemblClinVar.1
Natural variantiVAR_076577327I → II in SEMDG. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi54187
MalaCardsiNANS
MIMi610442 phenotype
OpenTargetsiENSG00000095380
PharmGKBiPA134978885

Polymorphism and mutation databases

BioMutaiNANS
DMDMi20978759

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000977502 – 359Sialic acid synthaseAdd BLAST358

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei61N6-acetyllysineBy similarity1
Modified residuei74N6-acetyllysineBy similarity1
Modified residuei79N6-acetyllysineCombined sources1
Modified residuei275PhosphoserineBy similarity1
Modified residuei290N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NR45
MaxQBiQ9NR45
PaxDbiQ9NR45
PeptideAtlasiQ9NR45
PRIDEiQ9NR45
ProteomicsDBi82270

2D gel databases

REPRODUCTION-2DPAGEiIPI00147874

PTM databases

iPTMnetiQ9NR45
PhosphoSitePlusiQ9NR45
SwissPalmiQ9NR45

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000095380
CleanExiHS_NANS
ExpressionAtlasiQ9NR45 baseline and differential
GenevisibleiQ9NR45 HS

Organism-specific databases

HPAiHPA019223

Interactioni

Protein-protein interaction databases

BioGridi119921, 46 interactors
IntActiQ9NR45, 19 interactors
MINTiQ9NR45
STRINGi9606.ENSP00000210444

Structurei

Secondary structure

1359
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi294 – 299Combined sources6
Helixi309 – 311Combined sources3
Beta strandi312 – 315Combined sources4
Beta strandi324 – 326Combined sources3
Helixi327 – 330Combined sources4
Beta strandi334 – 337Combined sources4
Helixi347 – 349Combined sources3
Beta strandi356 – 358Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WVONMR-A294-359[»]
ProteinModelPortaliQ9NR45
SMRiQ9NR45
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NR45

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini294 – 353AFP-likePROSITE-ProRule annotationAdd BLAST60

Phylogenomic databases

eggNOGiENOG410IHMI Eukaryota
COG2089 LUCA
GeneTreeiENSGT00390000011081
HOGENOMiHOG000284783
HOVERGENiHBG000665
InParanoidiQ9NR45
KOiK05304
OMAiTFGVKFG
OrthoDBiEOG091G0D9G
PhylomeDBiQ9NR45
TreeFamiTF324826

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR006190 AFP_Neu5c_C
IPR036732 AFP_Neu5c_C_sf
IPR013785 Aldolase_TIM
IPR006013 Antifreeze_III
IPR013132 Neu5Ac_N
IPR013974 SAF
PfamiView protein in Pfam
PF03102 NeuB, 1 hit
PRINTSiPR00357 ANTIFREEZIII
SMARTiView protein in SMART
SM00858 SAF, 1 hit
SUPFAMiSSF51269 SSF51269, 1 hit
PROSITEiView protein in PROSITE
PS50844 AFP_LIKE, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9NR45-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPLELELCPG RWVGGQHPCF IIAEIGQNHQ GDLDVAKRMI RMAKECGADC
60 70 80 90 100
AKFQKSELEF KFNRKALERP YTSKHSWGKT YGEHKRHLEF SHDQYRELQR
110 120 130 140 150
YAEEVGIFFT ASGMDEMAVE FLHELNVPFF KVGSGDTNNF PYLEKTAKKG
160 170 180 190 200
RPMVISSGMQ SMDTMKQVYQ IVKPLNPNFC FLQCTSAYPL QPEDVNLRVI
210 220 230 240 250
SEYQKLFPDI PIGYSGHETG IAISVAAVAL GAKVLERHIT LDKTWKGSDH
260 270 280 290 300
SASLEPGELA ELVRSVRLVE RALGSPTKQL LPCEMACNEK LGKSVVAKVK
310 320 330 340 350
IPEGTILTMD MLTVKVGEPK GYPPEDIFNL VGKKVLVTVE EDDTIMEELV

DNHGKKIKS
Length:359
Mass (Da):40,308
Last modified:May 15, 2002 - v2
Checksum:i2E02D47F4F98592F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti232A → T in BAA91818 (PubMed:14702039).Curated1
Sequence conflicti321G → A in AAF75261 (PubMed:10749855).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07657129H → N in SEMDG. 1 Publication1
Natural variantiVAR_01330868E → D1 PublicationCorresponds to variant dbSNP:rs1058446Ensembl.1
Natural variantiVAR_076572133G → V in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs878852980EnsemblClinVar.1
Natural variantiVAR_076573151R → H in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs140402727EnsemblClinVar.1
Natural variantiVAR_076574188Y → H in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs878852981EnsemblClinVar.1
Natural variantiVAR_076575189P → L in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs1024025721Ensembl.1
Natural variantiVAR_076576237R → C in SEMDG. 1 PublicationCorresponds to variant dbSNP:rs878852982EnsemblClinVar.1
Natural variantiVAR_076577327I → II in SEMDG. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257466 mRNA Translation: AAF75261.1
AK001659 mRNA Translation: BAA91818.1
AK316608 mRNA Translation: BAG38195.1
AL137073 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW58867.1
BC000008 mRNA Translation: AAH00008.1
BC019315 mRNA Translation: AAH19315.1
CCDSiCCDS6733.1
RefSeqiNP_061819.2, NM_018946.3
UniGeneiHs.522310
Hs.665191

Genome annotation databases

EnsembliENST00000210444; ENSP00000210444; ENSG00000095380
GeneIDi54187
KEGGihsa:54187
UCSCiuc004ayc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSIAS_HUMAN
AccessioniPrimary (citable) accession number: Q9NR45
Secondary accession number(s): B2RE98
, Q8WUV9, Q9BWS6, Q9NVD4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: May 15, 2002
Last modified: June 20, 2018
This is version 165 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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