Npc1l1 MGI Mouse Gene Detail - MGI:2685089 - NPC1 like intracellular cholesterol transporter 1

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

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr11:6161013-6180143 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 3.93 cM
Mapping Data

1 experiment

SNPs within 2kb

460 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685089	protein coding gene	Chr11:6161011-6180245 (-)
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 (-)

Human Ortholog

NPC1L1, NPC1 like intracellular cholesterol transporter 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NPC1L1, NPC1 like intracellular cholesterol transporter 1
Synonyms

LDLCQ7, NPC11L1, SLC65A2
Links

HGNC:7898

NCBI Gene ID: 29881

neXtProt AC: NX_Q9UHC9

UniProt: Q9UHC9
Chr Location

7p13; chr7:44512535-44541330 (-) GRCh38

MGI Vertebrate Homology

Npc1l1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NPC1L1
Gene Tree

Npc1l1

less

Phenotype Summary

15 phenotypes from 3 alleles in 4 genetic backgrounds
23 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

9
Endonuclease-mediated

4
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

less

All GO Annotations

32
GO References

9

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.

less

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

706
cDNA Data

8

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase npc1l1

ZFIN npc1l1

less

All Sequences

36
RefSeq

3
UniProt

4
CCDS

CCDS24413.1

Ensembl

ENSMUSG00000020447 (Evidence)
NCBI Gene

237636

			Length	Strain/Species	Flank
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

less

UniProt

4 Sequences
Protein Ontology

PR:000011356 NPC1-like intracellular cholesterol transporter 1

(term hierarchy)
InterPro Domains

IPR032190 Niemann-Pick C1, N-terminal

IPR004765 NPC1-like

IPR003392 Protein patched/dispatched

IPR000731 Sterol-sensing domain
GlyGen

Q6T3U4 2 sites, 2 N-linked glycans (2 sites)

less

All nucleic 8

cDNA 8

Microarray probesets 2

Summaries

All 58

Gene Ontology 9

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:317738 Jia L, et al., NPC1L1 Deficiency Suppresses Ileal Fibroblast Growth Factor 15 Expression and Increases Bile Acid Pool Size in High-Fat-Diet-Fed Mice. Cells. 2021 Dec 9;10(12)

TSS for Npc1l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106706	Chr11:6180174-6180242 (-)	-65 bp
Tssr106705	Chr11:6180127-6180160 (-)	-1 bp
Tssr106704	Chr11:6179261-6179272 (-)	876 bp
Tssr106703	Chr11:6179083-6179102 (-)	1,050 bp
Tssr106702	Chr11:6178413-6178449 (-)	1,712 bp
Tssr106701	Chr11:6172239-6172283 (-)	7,882 bp
Tssr106700	Chr11:6163873-6163914 (-)	16,249 bp
Tssr106699	Chr11:6163743-6163752 (-)	16,395 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24