NPL - N-acetylneuraminate pyruvate lyase Gene

Homo sapiens

Also known as NAL; C112; NPL1; C1orf13

Gene ID: 80896 | Gene type: protein coding

About NPL

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:182,789,773-182,830,384 (from NCBI)

This gene has 12 transcripts (splice variants), 199 orthologues and 1 paralogue. Broad expression in placenta (RPKM 18.1), kidney (RPKM 16.5) and 20 other tissues.

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]

NPL Products(5)

mRNA	Protein	Name
NM_001200050.2	NP_001186979.1	N-acetylneuraminate lyase isoform 2
NM_001200051.2	NP_001186980.1	N-acetylneuraminate lyase isoform 4
NM_001200052.2	NP_001186981.1	N-acetylneuraminate lyase isoform 5
NM_001200056.2	NP_001186985.1	N-acetylneuraminate lyase isoform 3
NM_030769.3	NP_110396.1	N-acetylneuraminate lyase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables N-acetylneuraminate lyase activity	IDA IDA: Inferred from direct assay	33895133	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in N-acetylneuraminate catabolic process	IDA IDA: Inferred from direct assay	33895133	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPL Protein Structure

DHDPS

0
100
200
300
320 a.a.

Protein Preferred Names

Protein Names

N-acetylneuraminate lyase

N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)

NPL Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NPL	Q9BXD5	NPL	Homo sapiens	Q9BXD5	Validated Y2H	32296183
Intra	NPL	Q9BXD5	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	NPL	Q9BXD5	NPL	Homo sapiens	Q9BXD5	Y2H Array	25416956
Intra	NPL	Q9BXD5	UFSP2	Homo sapiens	Q9NUQ7	Anti Tag CoIP	33961781
Intra	NPL	Q9BXD5	ODR4	Homo sapiens	Q5SWX8	Anti Tag CoIP	33961781
Intra	NPL	Q9BXD5	NPL	Homo sapiens	Q9BXD5	Y2H Array	32296183
Intra	NPL	Q9BXD5	CFAP418	Homo sapiens	Q96NL8	Y2H	36233334
Intra	NPL	Q9BXD5	PEG10	Homo sapiens	Q86TG7	Anti Tag CoIP	33961781
Intra	NPL	Q9BXD5	NPL	Homo sapiens	Q9BXD5	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Sialuria

Sialuria, French Type	French Type Sialuria
Sialuria French Type	Sialic Acid Storage Disease
Sialic Acid Storage Disease, Finnish Type	Infantile Sialic Acid Storage Disease

Inflammatory Bowel Disease 3

IBD3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-NP075	Narcissus Pseudonarcissus (Daffodil) Lectin		/	Unkown
HY-RS09488	NPL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NPL	RGD	RGD:1549702
Macaca mulatta	NPL	VGNC	VGNC:75191
Bos taurus	NPL	VGNC	VGNC:32205
Mus musculus	NPL	MGD	MGI:1921341
Felis catus	NPL	VGNC	VGNC:63870
Canis familiaris	NPL	VGNC	VGNC:43921
Others	NPL	NCBI

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