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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NPL-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	BEFREE	18165973, 22461138		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34128337	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	27886643		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10439963		★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 32	Deafness	Pubtator	21850178	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	11511916		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	11511916		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	14975105, 15638827		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	9477143		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10439963		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	9477143		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10820130, 14735201		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	15048659		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10820130, 14735201		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	18165973		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15003442, 18980222, 19326390		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28806193		★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	BEFREE	30870349		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34128337	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	16130088		★☆☆☆☆ Found in Text Mining only