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Information on EC 2.5.1.56 - N-acetylneuraminate synthase and Organism(s) Homo sapiens

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The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Bacteria, Archaea, Eukaryota
Synonyms
sialic acid synthase, neub1, nanas, neuac synthase, n-acetylneuraminic acid synthase, neunac synthase, nmenanas, n-acetylneuraminate synthase, nana synthase, nana condensing enzyme, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
(NANA) condensing enzyme
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N-acetylneuraminate pyruvate-lyase (pyruvate-phosphorylating)
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N-acetylneuraminic acid condensing enzyme
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NANA condensing enzyme
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NeuAc synthase
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synthase, N-acetylneuraminate
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
condensation
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SYSTEMATIC NAME
IUBMB Comments
phosphoenolpyruvate:N-acetyl-D-mannosamine C-(1-carboxyvinyl)transferase (phosphate-hydrolysing, 2-carboxy-2-oxoethyl-forming)
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CAS REGISTRY NUMBER
COMMENTARY hide
37290-66-7
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ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
gene NANS
SwissProt
Manually annotated by BRENDA team
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
biallelic mutations in gene NANS, the gene encoding N-acetylneuraminic acid synthase, in nine individuals causes infantile-onset severe developmental delay and skeletal dysplasia. The main clinical features of the dis­order included a prenatal history that is unremarkable in all patients except for one, in whom prenatal hydrocephalus is diagnosed. Patient body fluids show an elevation in N-acetyl-D-mannosamine levels, and patient-derived fibroblasts have reduced enzyme activity and are unable to incorporate sialic acid precursors into sialylated glycoproteins, phenotypes, overview
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
SIAS_HUMAN
359
0
40308
Swiss-Prot
other Location (Reliability: 2)
PDB
SCOP
CATH
UNIPROT
ORGANISM
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
G133V
naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype
K131Q
naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype
P189L
naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype
Y188H
naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
van Karnebeek, C.D.; Bonafe, L.; Wen, X.Y.; Tarailo-Graovac, M.; Balzano, S.; Royer-Bertrand, B.; Ashikov, A.; Garavelli, L.; Mammi, I.; Turolla, L.; Breen, C.; Donnai, D.; Cormier, V.; Heron, D.; Nishimura, G.; Uchikawa, S.; Campos-Xavier, B.; Rossi, A.; Hennet, T.; Brand-Arzamendi, K.; Rozmus, J.
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Nat. Genet.
48
777-784
2016
Danio rerio (Q6P0K4), Homo sapiens (Q9NR45)
Manually annotated by BRENDA team