Npl
Gene Detail

Symbol Name ID

Npl N-acetylneuraminate pyruvate lyase MGI:1921341

Synonyms

0610033B02Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 1

65.38 cM, cytoband G2
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr1:153503016-153549714 bp, - strand From NCBI annotation of GRCm38   46699 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:12533  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 chicken; 2 zebrafish

Protein SuperFamily: dihydrodipicolinate synthase
Gene Tree: Npl

Human homologs

Human Homolog		NPL, N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
NCBI Gene ID		80896
neXtProt AC		NX_Q9BXD5
Human Synonyms		C112, C1orf13, NAL, NPL1
Human Chr (Location)		1q25; chr1:182758584-182799519 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(45) : Targeted(2) Gene trapped(43)
 

Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities.

 

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	carbohydrate metabolic process, metabolic process, ...
Component	cytoplasm
Function	catalytic activity, lyase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (100)    Tissues (99)    Images (2)
Theiler Stages: 20, 21, 22, 24, 26, 28

Assay Type	Results
RNA in situ	100

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(10) cDNA(9) Primer pair(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000042684 (Evidence)
Entrez Gene	74091 (Evidence)
DFCI	TC1578705
DoTS	DT.531403, DT.94293715
NIA Mouse Gene Index	U021903
EC	4.1.3.3
Consensus CDS Project	CCDS15374.1
International Mouse Knockout Project Status	Npl

Sequences

Length	Strain/Species
genomic	74091	NCBI Gene Model | MGI Sequence Detail	46699	C57BL/6J
transcript	NM_028749	RefSeq | MGI Sequence Detail	1403	C57BL/6
polypeptide	Q9DCJ9	UniProt | EBI | MGI Sequence Detail	320	Not Applicable

All sequences(17) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(175 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR013785	Aldolase-type TIM barrel
InterPro	IPR002220	Dihydrodipicolinate synthetase-like
Protein Ontology	PR:000011368	N-acetylneuraminate lyase

Graphical View of Protein Domain Structure

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:188842 Bergfeld AK, et al., Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid. J Biol Chem. 2012 Aug 17;287(34):28865-81
All references(37)