Summary: This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011].

N-acetylneuraminate pyruvate lyaseMIM:611412Ensembl:ENSG00000135838HGNC:HGNC:16781PA256021q25.3

GO terms in NPL

Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFISSGO:0008747N-acetylneuraminate lyase activity
MFTASGO:0008747N-acetylneuraminate lyase activity
MFIPIGO:0042802identical protein binding
BPIEAGO:0005975carbohydrate metabolic process
BPIEAGO:0019262N-acetylneuraminate catabolic process
BPTASGO:0019262N-acetylneuraminate catabolic process

Gene expression in normal tissue: NPL

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NPL

DatabasePathway IDPathway Des.
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-4085001Sialic acid metabolism
reactomeR-HSA-446193Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
reactomeR-HSA-446203Asparagine N-linked glycosylation
reactomeR-HSA-446219Synthesis of substrates in N-glycan biosythesis
reactomeR-HSA-597592Post-translational protein modification
smpdbSMP00045Amino Sugar Metabolism
smpdbSMP00216Sialuria or French Type Sialuria
smpdbSMP00217Sialuria or French Type Sialuria
smpdbSMP00240Salla Disease/Infantile Sialic Acid Storage Disease
smpdbSMP00390Tay-Sachs Disease
smpdbSMP00534G(M2)-Gangliosidosis: Variant B, Tay-sachs disease
kegghsa00520Amino sugar and nucleotide sugar metabolism - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NPL