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Protein

Sialic acid synthase

Gene

NANS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • lipopolysaccharide biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS01818-MONOMER.
ZFISH: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

HGNCiHGNC:19237. NANS.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

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 Publication1
Natural variantiVAR_076573151R → H in SEMDG. 1 PublicationCorresponds to variant rs140402727dbSNPEnsembl.1
Natural variantiVAR_076574188Y → H in SEMDG. 1 Publication1
Natural variantiVAR_076575189P → L in SEMDG. 1 Publication1
Natural variantiVAR_076576237R → C in SEMDG. 1 Publication1
Natural variantiVAR_076577327I → II in SEMDG. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi54187.
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 residuei79N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NR45.
MaxQBiQ9NR45.
PaxDbiQ9NR45.
PeptideAtlasiQ9NR45.
PRIDEiQ9NR45.

2D gel databases

REPRODUCTION-2DPAGEIPI00147874.

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. 37 interactors.
IntActiQ9NR45. 19 interactors.
MINTiMINT-5002014.
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

Sequence similaritiesi

Contains 1 AFP-like domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di3.20.20.70. 1 hit.
3.90.1210.10. 1 hit.
InterProiIPR006190. AFP_Neu5c_C.
IPR013785. Aldolase_TIM.
IPR006013. Antifreeze_III.
IPR013132. Neu5Ac_N.
IPR013974. SAF.
[Graphical view]
PfamiPF03102. NeuB. 1 hit.
[Graphical view]
PRINTSiPR00357. ANTIFREEZIII.
SMARTiSM00858. SAF. 1 hit.
[Graphical view]
SUPFAMiSSF51269. SSF51269. 1 hit.
PROSITEiPS50844. AFP_LIKE. 1 hit.
[Graphical view]

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 → D.1 PublicationCorresponds to variant rs1058446dbSNPEnsembl.1
Natural variantiVAR_076572133G → V in SEMDG. 1 Publication1
Natural variantiVAR_076573151R → H in SEMDG. 1 PublicationCorresponds to variant rs140402727dbSNPEnsembl.1
Natural variantiVAR_076574188Y → H in SEMDG. 1 Publication1
Natural variantiVAR_076575189P → L in SEMDG. 1 Publication1
Natural variantiVAR_076576237R → C in SEMDG. 1 Publication1
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. Translation: CAI13886.1.
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

Cross-referencesi

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. Translation: CAI13886.1.
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi119921. 37 interactors.
IntActiQ9NR45. 19 interactors.
MINTiMINT-5002014.
STRINGi9606.ENSP00000210444.

PTM databases

iPTMnetiQ9NR45.
PhosphoSitePlusiQ9NR45.
SwissPalmiQ9NR45.

Polymorphism and mutation databases

BioMutaiNANS.
DMDMi20978759.

2D gel databases

REPRODUCTION-2DPAGEIPI00147874.

Proteomic databases

EPDiQ9NR45.
MaxQBiQ9NR45.
PaxDbiQ9NR45.
PeptideAtlasiQ9NR45.
PRIDEiQ9NR45.

Protocols and materials databases

DNASUi54187.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi54187.
DisGeNETi54187.
GeneCardsiNANS.
HGNCiHGNC:19237. NANS.
HPAiHPA019223.
MIMi605202. gene.
610442. phenotype.
neXtProtiNX_Q9NR45.
OpenTargetsiENSG00000095380.
PharmGKBiPA134978885.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiNANS. human.
EvolutionaryTraceiQ9NR45.
GeneWikiiNANS.
GenomeRNAii54187.
PROiQ9NR45.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000095380.
CleanExiHS_NANS.
ExpressionAtlasiQ9NR45. baseline and differential.
GenevisibleiQ9NR45. HS.

Family and domain databases

Gene3Di3.20.20.70. 1 hit.
3.90.1210.10. 1 hit.
InterProiIPR006190. AFP_Neu5c_C.
IPR013785. Aldolase_TIM.
IPR006013. Antifreeze_III.
IPR013132. Neu5Ac_N.
IPR013974. SAF.
[Graphical view]
PfamiPF03102. NeuB. 1 hit.
[Graphical view]
PRINTSiPR00357. ANTIFREEZIII.
SMARTiSM00858. SAF. 1 hit.
[Graphical view]
SUPFAMiSSF51269. SSF51269. 1 hit.
PROSITEiPS50844. AFP_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSIAS_HUMAN
AccessioniPrimary (citable) accession number: Q9NR45
Secondary accession number(s): B2RE98
, Q8WUV9, Q9BWS6, Q9NVD4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: May 15, 2002
Last modified: November 2, 2016
This is version 152 of the entry and version 2 of the sequence. [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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.