• Gene id: 80896

Gene Summary

• Gene Symbol: NPL   Gene   UCSC   Ensembl
• Aliases: C112, C1orf13, NAL, NPL1
• Gene name: N-acetylneuraminate pyruvate lyase
• Alternate names: N-acetylneuraminate lyase, N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase), N-acetylneuraminic acid aldolase, NALase, dihydrodipicolinate synthetase homolog 1, sialate-pyruvate lyase, sialic acid aldolase,
• Gene location: 1q25.3 (41216713: 40810026)     Exons: 23     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 611412

Protein Summary

• Protein general information: Q9BXD5  
  • 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)
  • Length: 320  
  • Mass: 35163
  • Tissue specificity: Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte. {ECO
• Sequence:

  MAFPKKKLQGLVAATITPMTENGEINFSVIGQYVDYLVKEQGVKNIFVNGTTGEGLSLSVSERRQVAEEWVTKGK
  DKLDQVIIHVGALSLKESQELAQHAAEIGADGIAVIAPFFLKPWTKDILINFLKEVAAAAPALPFYYYHIPALTG
  VKIRAEELLDGILDKIPTFQGLKFSDTDLLDFGQCVDQNRQQQFAFLFGVDEQLLSALVMGATGAVGSTYNYLGK
  KTNQMLEAFEQKDFSLALNYQFCIQRFINFVVKLGFGVSQTKAIMTLVSGIPMGPPRLPLQKASREFTDSAEAKL
  KSLDFLSFTDLKDGNLEAGS

• Structural information:
  • Interpro: IPR013785  IPR002220  IPR005264  
  • CDD: cd00954
  • PDB: 6ARH
  • PDBsum: 6ARH
  • STRING: ENSP00000258317
• Other Databases: GeneCards:  NPL  Malacards:  NPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019262	N-acetylneuraminate catabolic process	TAS	biological process
GO:0008747	N-acetylneuraminate lyase activity	ISS	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008747	N-acetylneuraminate lyase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008747	N-acetylneuraminate lyase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008747	N-acetylneuraminate lyase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0019262	N-acetylneuraminate catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)