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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    1542 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (-)



Homology
more
  • 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
    NCBI Gene ID: 80896
    UniProt: Q9BXD5

  • Chr Location
    1q25.3; chr1:182789293-182830384 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    12 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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    3
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

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
Click cells to view annotations.
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
    813
  • Tissues
    102
  • cDNA Data
    8
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 10
      Primer pair 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 7
      Gene Ontology 3
      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
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    03/25/2025
    MGI 6.24     		The Jackson Laboratory