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

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)

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09488	NPL Human Pre-designed siRNA Set A		/	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