Npl MGI Mouse Gene Detail - MGI:1921341 - N-acetylneuraminate pyruvate lyase

Symbol

Npl
Name

N-acetylneuraminate pyruvate lyase
Synonyms

0610033B02Rik

Feature Type

protein coding gene
IDs

MGI:1921341
NCBI Gene: 74091
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr1:153378762-153425460 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 65.38 cM, cytoband G2
Mapping Data

2 experiments

SNPs within 2kb

1536 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921341	protein coding gene	Chr1:153378761-153425791 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016598	protein coding gene	Chr1:158334823-158385052 (-)
A/J	MGP_AJ_G0016580	protein coding gene	Chr1:151948572-151994439 (-)
AKR/J	MGP_AKRJ_G0016545	protein coding gene	Chr1:156658346-156708448 (-)
BALB/cJ	MGP_BALBcJ_G0016540	protein coding gene	Chr1:152499092-152544998 (-)
C3H/HeJ	MGP_C3HHeJ_G0016365	protein coding gene	Chr1:156752682-156803226 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017001	protein coding gene	Chr1:163805382-163856883 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014710	protein coding gene	Chr1:144247686-144288990 (-)
CAST/EiJ	MGP_CASTEiJ_G0015944	protein coding gene	Chr1:156273704-156325880 (-)
CBA/J	MGP_CBAJ_G0016339	protein coding gene	Chr1:169564402-169620393 (-)
DBA/2J	MGP_DBA2J_G0016445	protein coding gene	Chr1:150968506-151019465 (-)
FVB/NJ	MGP_FVBNJ_G0016443	protein coding gene	Chr1:149434279-149480269 (-)
LP/J	MGP_LPJ_G0016516	protein coding gene	Chr1:159455644-159506372 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016469	protein coding gene	Chr1:177191294-177250533 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017037	protein coding gene	Chr1:156425324-156482746 (-)
PWK/PhJ	MGP_PWKPhJ_G0015730	protein coding gene	Chr1:150010573-150059434 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015517	protein coding gene	Chr1:155221896-155270849 (-)
WSB/EiJ	MGP_WSBEiJ_G0016007	protein coding gene	Chr1:156509287-156564913 (-)

Human Ortholog

NPL, N-acetylneuraminate pyruvate lyase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NPL, N-acetylneuraminate pyruvate lyase
Synonyms

C112, C1orf13, NAL, NPL1
Links

HGNC:16781

NCBI Gene ID: 80896

neXtProt AC: NX_Q9BXD5

UniProt: Q9BXD5
Chr Location

1q25.3; chr1:182789293-182830384 (+) GRCh38

MGI Vertebrate Homology

Npl stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NPL
Protein SuperFamily

DHDPS
Gene Tree

Npl

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Phenotype Summary

24 phenotypes from 3 alleles in 3 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

46
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

38
Targeted

2
Genomic Mutations

2 involving Npl
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. Homozygosity for the p.R63C mutation or KO leads to impaired mitochondrial respiration, leading to reduced skeletal muscle strength, endurance and regeneration capacity.

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All GO Annotations

13
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

813
Tissues

102
cDNA Data

8
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase npl

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All Sequences

32
RefSeq

2
UniProt

1
CCDS

CCDS15374.1

Ensembl

ENSMUSG00000042684 (Evidence)
NCBI Gene

74091

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

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UniProt

1 Sequence
Protein Ontology

PR:000011368 N-acetylneuraminate lyase

(term hierarchy)
EC

4.1.3.3
InterPro Domains

IPR013785 Aldolase-type TIM barrel

IPR002220 DapA-like

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All nucleic 13

cDNA 10

Primer pair 3

Microarray probesets 3

Summaries

All 47

Developmental Gene Expression 7

Gene Ontology 8

Phenotypes 12
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:344223 Zhang W, et al., NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance. Cell Rep. 2023 Dec 26;42(12):113531

TSS for Npl:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr14280	Chr1:153425791-153425827 (-)	-349 bp
Tssr14279	Chr1:153425584-153425601 (-)	-133 bp
Tssr14278	Chr1:153425564-153425574 (-)	-109 bp
Tssr14277	Chr1:153425480-153425491 (-)	-26 bp
Tssr14275	Chr1:153421130-153421142 (-)	4,324 bp
Tssr14274	Chr1:153421087-153421120 (-)	4,356 bp
Tssr14273	Chr1:153394690-153394705 (-)	30,762 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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