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Npc1 Gene Detail
Summary
  • Symbol
    Npc1
  • Name
    NPC intracellular cholesterol transporter 1
  • Synonyms
    A430089E03Rik, C85354, D18Ertd139e, D18Ertd723e, lcsd, nmf164
  • Feature Type
    protein coding gene
  • IDs
    MGI:1097712
    NCBI Gene: 18145
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:12322749-12369457 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 6.15 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1872 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1097712
 protein coding gene Chr18:12322749-12369851 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024158
 protein coding gene Chr18:9344078-9401128 (-)
A/J MGP_AJ_G0024120
 protein coding gene Chr18:9194974-9242869 (-)
AKR/J MGP_AKRJ_G0024087
 protein coding gene Chr18:9477593-9524253 (-)
BALB/cJ MGP_BALBcJ_G0024119
 protein coding gene Chr18:9139262-9186111 (-)
C3H/HeJ MGP_C3HHeJ_G0023886
 protein coding gene Chr18:9347287-9394122 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024564
 protein coding gene Chr18:9832988-9879702 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022003
 protein coding gene Chr18:8774308-8820762 (-)
CAST/EiJ MGP_CASTEiJ_G0023363
 protein coding gene Chr18:9223771-9272318 (-)
CBA/J MGP_CBAJ_G0023858
 protein coding gene Chr18:9960532-10009540 (-)
DBA/2J MGP_DBA2J_G0023987
 protein coding gene Chr18:9040507-9087201 (-)
FVB/NJ MGP_FVBNJ_G0023952
 protein coding gene Chr18:8902659-8949930 (-)
LP/J MGP_LPJ_G0024070
 protein coding gene Chr18:9444512-9498292 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023981
 protein coding gene Chr18:10135171-10181893 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024610
 protein coding gene Chr18:9237124-9288005 (-)
PWK/PhJ MGP_PWKPhJ_G0023109
 protein coding gene Chr18:9101245-9152139 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022918
 protein coding gene Chr18:9499506-9555179 (-)
WSB/EiJ MGP_WSBEiJ_G0023429
 protein coding gene Chr18:9241381-9288133 (-)



Homology
more
  • Human Ortholog
    NPC1, NPC intracellular cholesterol transporter 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPC1, NPC intracellular cholesterol transporter 1
  • Synonyms
    NPC, POGZ, SLC65A1
  • Links
    NCBI Gene ID: 4864
    neXtProt AC: NX_O15118
    UniProt: O15118

  • Chr Location
    18q11.2; chr18:23506184-23586506 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Npc1 mouse models; 1 with human NPC1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 17 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    18 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    168 phenotypes from 10 alleles in 22 genetic backgrounds
    35 phenotypes from multigenic genotypes
    4 images
    284 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.
Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    83
  • GO References
    21
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.
Expression
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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
    750
  • Tissues
    29
  • cDNA Data
    20
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024413 Ensembl Gene Model | MGI Sequence Detail 46709 C57BL/6J ±  kb
    transcript ENSMUST00000025279 Ensembl | MGI Sequence Detail 5224 Not Applicable  
    polypeptide ENSMUSP00000025279 Ensembl | MGI Sequence Detail 1277 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 6
      cDNA 20
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11760, MGD-MRK-14533, MGI:1098628, MGI:1289269, MGI:2147413, MGI:2444276, MGI:2686738, MGI:96758, MGI:98383
    References
    more
    • Summaries
      All 354
      Developmental Gene Expression 5
      Diseases 18
      Gene Ontology 21
      Phenotypes 284
    • Earliest
      J:83825 Boothe AD, et al., Tissue cholesterol storage disorder in BALB/c mice: histologic findings. Fed Proc. 1977;36:1158 (Abstr.)
    • Latest
      J:357487 Guan L, et al., Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis. Anim Genet. 2024 Feb;55(1):99-109
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory