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Npl Gene Detail
Summary
  • Symbol
    Npl
  • Name
    N-acetylneuraminate pyruvate lyase
  • Synonyms
    0610033B02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921341
    NCBI Gene: 74091
Location & Maps
more
  • Sequence Map
    Chr1:153503015-153550045 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47031 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 65.38 cM, cytoband G2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    NPL, N-acetylneuraminate pyruvate lyase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NPL, N-acetylneuraminate pyruvate lyase
    Orthology source: HomoloGene
  • Synonyms
    C112, C1orf13, NAL, NPL1
  • Links
    NCBI Gene ID: 80896
    neXtProt AC: NX_Q9BXD5

  • Chr Location
    1q25; chr1:182789449-182830384 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

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
    47
  • Chemically induced (other)
    2
  • Gene trapped
    43
  • Targeted
    2
  • Genomic Mutations
    2 involving Npl
  • Incidental Mutations
Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Expression
less
Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049716 VEGA Gene Model | MGI Sequence Detail 47031 C57BL/6J ±  kb
transcript OTTMUST00000126636 VEGA | MGI Sequence Detail 1735 Not Applicable  
polypeptide OTTMUSP00000068454 VEGA | MGI Sequence Detail 320 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    340 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 9
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 11
  • 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:202156 Xiao S, et al., Progesterone receptor-mediated regulation of N-acetylneuraminate pyruvate lyase (NPL) in mouse uterine luminal epithelium and nonessential role of NPL in uterine function. PLoS One. 2013;8(5):e65607

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory