NPL (N-acetylneuraminate pyruvate lyase)

Gene

• Entrez ID: 80896
• Gene name: N-acetylneuraminate pyruvate lyase
• Gene symbol: NPL
• Synonyms (NCBI Gene): C112, C1orf13, NAL, NPL1
• Chromosome: 1
• Chromosome location: 1q25.3
• 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 siali

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1190928	hsa-miR-2110	CLIP-seq
MIRT1190929	hsa-miR-3150a-3p	CLIP-seq
MIRT1190930	hsa-miR-3617	CLIP-seq
MIRT1190931	hsa-miR-3646	CLIP-seq
MIRT1190932	hsa-miR-3662	CLIP-seq
MIRT1190933	hsa-miR-4260	CLIP-seq
MIRT1190934	hsa-miR-4271	CLIP-seq
MIRT1190935	hsa-miR-4477a	CLIP-seq
MIRT1190936	hsa-miR-4725-3p	CLIP-seq
MIRT1190937	hsa-miR-4760-3p	CLIP-seq
MIRT1190938	hsa-miR-641	CLIP-seq
MIRT1190939	hsa-miR-9	CLIP-seq
MIRT1190940	hsa-miR-1261	CLIP-seq
MIRT1190941	hsa-miR-3121-5p	CLIP-seq
MIRT1190942	hsa-miR-3168	CLIP-seq
MIRT1190943	hsa-miR-4762-5p	CLIP-seq
MIRT1190931	hsa-miR-3646	CLIP-seq
MIRT2284187	hsa-miR-3685	CLIP-seq
MIRT2284188	hsa-miR-384	CLIP-seq
MIRT2284189	hsa-miR-656	CLIP-seq
MIRT2391697	hsa-miR-1539	CLIP-seq
MIRT2391698	hsa-miR-3127-5p	CLIP-seq
MIRT2391699	hsa-miR-3193	CLIP-seq
MIRT2391700	hsa-miR-4734	CLIP-seq
MIRT1190937	hsa-miR-4760-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0008747	Function	N-acetylneuraminate lyase activity	IBA
GO:0008747	Function	N-acetylneuraminate lyase activity	IDA	33895133
GO:0008747	Function	N-acetylneuraminate lyase activity	IEA
GO:0008747	Function	N-acetylneuraminate lyase activity	ISS
GO:0016829	Function	Lyase activity	IEA
GO:0019262	Process	N-acetylneuraminate catabolic process	IBA
GO:0019262	Process	N-acetylneuraminate catabolic process	IDA	33895133
GO:0019262	Process	N-acetylneuraminate catabolic process	IEA
GO:0019262	Process	N-acetylneuraminate catabolic process	TAS	22692205
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183

Other IDs

• MIM: 611412
• HGNC: 16781
• e!Ensembl: ENSG00000135838

Protein

• UniProt ID: Q9BXD5
• Protein name: N-acetylneuraminate lyase (NALase) (EC 4.1.3.3) (N-acetylneuraminate pyruvate-lyase) (N-acetylneuraminic acid aldolase) (Sialate lyase) (Sialate-pyruvate lyase) (Sialic acid aldolase) (Sialic acid lyase)
• Protein function: Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate (PubMed:33895133). It prevents sialic acids from being recycled and returning to the cell surface (PubMed:338
• PDB: 6ARH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00701	DHDPS	7 → 303	Dihydrodipicolinate synthetase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte. {ECO:0000269|PubMed:16147865}.
• Sequence:

  MAFPKKKLQGLVAATITPMTENGEINFSVIGQYVDYLVKEQGVKNIFVNGTTGEGLSLSV
  SERRQVAEEWVTKGKDKLDQVIIHVGALSLKESQELAQHAAEIGADGIAVIAPFFLKPWT
  KDILINFLKEVAAAAPALPFYYYHIPALTGVKIRAEELLDGILDKIPTFQGLKFSDTDLL
  DFGQCVDQNRQQQFAFLFGVDEQLLSALVMGATGAVGSTYNYLGKKTNQMLEAFEQKDFS
  LALNYQFCIQRFINFVVKLGFGVSQTKAIMTLVSGIPMGPPRLPLQKASREFTDSAEAKL
  KSLDFLSFTDLKDGNLEAGS

• Sequence length: 320

Pathways

KEGG:

Biosynthesis of various nucleotide sugars
Metabolic pathways

Reactome:

Sialic acid metabolism

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
NPL-related disorder	Likely benign	rs193141545	RCV003961417

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Squamous Cell	Associate	34128337
Deafness Autosomal Recessive 32	Associate	21850178
Small Cell Lung Carcinoma	Associate	34128337