ENSMUSG00000020447


Mus musculus

Features
Gene ID: ENSMUSG00000020447
  
Biological name :Npc1l1
  
Synonyms : Npc1l1 / NPC1 like intracellular cholesterol transporter 1
  
Possible biological names infered from orthology : Q9UHC9
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: A1
Gene start: 6211013
Gene end: 6230143
  
Corresponding Affymetrix probe sets: 10384102 (MoGene1.0st)   1438514_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000004505
NCBI entrez gene - 237636     See in Manteia.
MGI - MGI:2685089
RefSeq - NM_207242
RefSeq Peptide - NP_997125
swissprot - Z4YJC9
Ensembl - ENSMUSG00000020447
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NPC1L1ENSDARG00000099558Danio rerio
 NPC1L1ENSG00000015520Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Npc1 / O35604 / Niemann-Pick C1 protein / O15118* / NPC intracellular cholesterol transporter 1*ENSMUSG0000002441338
2 / Ptch2 / O35595 / Q9Y6C5* / patched 2*ENSMUSG0000002868118
Ptch1 / Q61115 / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA. / Q13635* / patched 1*ENSMUSG0000002146618
Ptchd3 / Q0EEE2 / patched domain containing 3 / Q3KNS1*ENSMUSG0000003919814
Ptchd4 / Mus musculus patched domain containing 4 (Ptchd4), transcript variant 1, mRNA. / Q6ZW05* / patched domain containing 4*ENSMUSG0000004225611
Ptchd1 / Q14B62 / Patched domain-containing protein 1 / Q96NR3* / patched domain containing 1*ENSMUSG0000004155211


Protein motifs (from Interpro)
Interpro ID Name
 IPR000731  Sterol-sensing domain
 IPR003392  Protein patched/dispatched
 IPR004765  NPC1-like
 IPR032190  Niemann-Pick C1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006695 cholesterol biosynthetic process IEA
 biological_processGO:0030299 intestinal cholesterol absorption IEA
 biological_processGO:0030301 cholesterol transport IEA
 biological_processGO:0042157 lipoprotein metabolic process IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0071501 cellular response to sterol depletion IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0044214 spanning component of plasma membrane IEA
 molecular_functionGO:0005319 lipid transporter activity IEA
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0017137 Rab GTPase binding IEA
 molecular_functionGO:0031489 myosin V binding IEA


Pathways (from Reactome)
Pathway description
Intestinal lipid absorption


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000181 abnormal circulating LDL cholesterol level "anomalous concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Foxq1sa/Foxq1sa
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Foxq1sa/Foxq1sa
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0000187 abnormal triglyceride level "anomalous concentration of this molecule, glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxq1sa/Foxq1sa
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxq1sa/Foxq1sa
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0002310 resistance to fatty liver development "less likely than the norm to to develop hepatic steatosis " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxq1sa/Foxq1sa
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0002323 resistance to hyperlipidemia "less likely than the norm to develop abnormally high levels of circulating lipids" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxq1sa/Foxq1sa
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0002645 abnormal cholesterol absorption "anomalous ability of the body to take in these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Venus,-Sdk2)Jrs/Gt(ROSA)26Sor+,Sdk2tm1.1(cre/ERT2)Jrs/Sdk2tm1.1(cre/ERT2)Jrs
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * DBA/2

 MP:0002647 decreased cholesterol absorption "reduced ability of the body to take in these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Arg2tm1Weo/Arg2+
Genetic Background: involves: C57BL/6J

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

 MP:0003947 abnormal cholesterol level "anomaly in the concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Arg2tm1Weo/Arg2+
Genetic Background: involves: C57BL/6J

 MP:0005084 abnormal gall bladder morphology "anomalous structure or development of the organ which serves as a storage reservoir for bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

Allelic Composition: Npc1l1tm1a(EUCOMM)Hmgu/Npc1l1tm1a(EUCOMM)Hmgu
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0005278 abnormal cholesterol homeostasis "anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]
Show

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

 MP:0005342 abnormal lipid absorption "anomalous ability of the body to take in fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

 MP:0005659 resistance to diet-induced obesity "less likely to become excessively fat or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat " [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
Show

Allelic Composition: Npc1l1tm1Yaio/Npc1l1tm1Yaio
Genetic Background: C57BL/6-Npc1l1tm1Yaio

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr