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Npc1l1 Gene Detail
Summary
  • Symbol
    Npc1l1
  • Name
    NPC1 like intracellular cholesterol transporter 1
  • Synonyms
    9130221N23Rik, Niemann-Pick disease, type C1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685089
    NCBI Gene: 237636
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:6211013-6230143 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 3.93 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    67 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685089
protein coding gene Chr11:6211011-6230245 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018017
protein coding gene Chr11:3304519-3323642 (-)
A/J MGP_AJ_G0017990
protein coding gene Chr11:3173486-3192633 (-)
AKR/J MGP_AKRJ_G0017954
protein coding gene Chr11:3328988-3348111 (-)
BALB/cJ MGP_BALBcJ_G0017958
protein coding gene Chr11:3160768-3180015 (-)
C3H/HeJ MGP_C3HHeJ_G0017771
protein coding gene Chr11:3207496-3226619 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018410
protein coding gene Chr11:3410634-3431579 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016068
protein coding gene Chr11:3066400-3085780 (-)
CAST/EiJ MGP_CASTEiJ_G0017333
protein coding gene Chr11:3188690-3207634 (-)
CBA/J MGP_CBAJ_G0017746
protein coding gene Chr11:3799116-3818372 (-)
DBA/2J MGP_DBA2J_G0017856
protein coding gene Chr11:3088667-3107799 (-)
FVB/NJ MGP_FVBNJ_G0017848
protein coding gene Chr11:3107484-3126605 (-)
LP/J MGP_LPJ_G0017927
protein coding gene Chr11:3384518-3403742 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017874
protein coding gene Chr11:3366920-3386048 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018450
protein coding gene Chr11:3347134-3366259 (-)
PWK/PhJ MGP_PWKPhJ_G0017113
protein coding gene Chr11:3115787-3136115 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016910
protein coding gene Chr11:3299906-3323616 (-)
WSB/EiJ MGP_WSBEiJ_G0017387
protein coding gene Chr11:3182688-3201945 (-)



Homology
more
  • Human Ortholog
    NPC1L1, NPC1 like intracellular cholesterol transporter 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NPC1L1, NPC1 like intracellular cholesterol transporter 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LDLCQ7, NPC11L1, SLC65A2
  • Links
    NCBI Gene ID: 29881
    neXtProt AC: NX_Q9UHC9
    UniProt: Q9UHC9

  • Chr Location
    7p13; chr7:44512440-44541650 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 3 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    23 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted null mutation exhibit normal intestinal development, fertility and plasma cholesterol and triglyceride levels; however, intestinal cholesterol absorption was substantially reduced.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020447 Ensembl Gene Model | MGI Sequence Detail 19131 C57BL/6J ±  kb
transcript ENSMUST00000004505 Ensembl | MGI Sequence Detail 4467 Not Applicable  
polypeptide ENSMUSP00000004505 Ensembl | MGI Sequence Detail 1333 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 2
References
more
  • Summaries
    All 51
    Gene Ontology 6
    Phenotypes 23
  • Earliest
    J:89712 Altmann SW, et al., Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 2004 Feb 20;303(5661):1201-4
  • Latest
    J:263730 Zhang YY, et al., A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption. Science. 2018 Jun 8;360(6393):1087-1092

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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory