NPL
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| N-acetylneuraminate pyruvate lyase | MIM:611412 | Ensembl:ENSG00000135838 | HGNC:HGNC:16781 | PA25602 | 1q25.3 |
GO terms in NPL
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0008747 | N-acetylneuraminate lyase activity |
| MF | TAS | GO:0008747 | N-acetylneuraminate lyase activity |
| MF | IPI | GO:0042802 | identical protein binding |
| BP | IEA | GO:0005975 | carbohydrate metabolic process |
| BP | IEA | GO:0019262 | N-acetylneuraminate catabolic process |
| BP | TAS | GO:0019262 | N-acetylneuraminate catabolic process |
| CC | TAS | GO:0005829 | cytosol |
Gene expression in normal tissue: NPL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NPL
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4085001 | Sialic acid metabolism |
| reactome | R-HSA-446193 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-446219 | Synthesis of substrates in N-glycan biosythesis |
| reactome | R-HSA-597592 | Post-translational protein modification |
| smpdb | SMP00045 | Amino Sugar Metabolism |
| smpdb | SMP00216 | Sialuria or French Type Sialuria |
| smpdb | SMP00217 | Sialuria or French Type Sialuria |
| smpdb | SMP00240 | Salla Disease/Infantile Sialic Acid Storage Disease |
| smpdb | SMP00390 | Tay-Sachs Disease |
| smpdb | SMP00534 | G(M2)-Gangliosidosis: Variant B, Tay-sachs disease |
| kegg | hsa00520 | Amino sugar and nucleotide sugar metabolism - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NPL
CLASSFICATION
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