ENSG00000015520


Homo sapiens

Features
Gene ID: ENSG00000015520
  
Biological name :NPC1L1
  
Synonyms : NPC1L1 / NPC1 like intracellular cholesterol transporter 1 / Q9UHC9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p13
Gene start: 44512535
Gene end: 44541315
  
Corresponding Affymetrix probe sets: 220106_at (Human Genome U133 Plus 2.0 Array)   224305_s_at (Human Genome U133 Plus 2.0 Array)   224306_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000404670
Ensembl peptide - ENSP00000438033
Ensembl peptide - ENSP00000289547
Ensembl peptide - ENSP00000370552
NCBI entrez gene - 29881     See in Manteia.
OMIM - 608010
RefSeq - XM_011515328
RefSeq - NM_001101648
RefSeq - NM_001300967
RefSeq - NM_013389
RefSeq - XM_011515326
RefSeq Peptide - NP_001095118
RefSeq Peptide - NP_001287896
RefSeq Peptide - NP_037521
swissprot - A0A0C4DGG6
swissprot - Q9UHC9
swissprot - A0A0C4DFX6
Ensembl - ENSG00000015520
  
Related genetic diseases (OMIM): 617966 - [Ezetimibe, nonresponse to], 617966
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NPC1L1ENSDARG00000099558Danio rerio
 Npc1l1ENSMUSG00000020447Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NPC1 / O15118 / NPC intracellular cholesterol transporter 1ENSG0000014145837
PTCH1 / Q13635 / patched 1ENSG0000018592019
PTCH2 / Q9Y6C5 / patched 2ENSG0000011742518
PTCHD1 / Q96NR3 / patched domain containing 1ENSG0000016518612
PTCHD4 / Q6ZW05 / patched domain containing 4ENSG0000024469411
PTCHD3 / Q3KNS1 / patched domain containing 3ENSG0000018207711


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:0006629 lipid metabolic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process IMP
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0030299 intestinal cholesterol absorption IMP
 biological_processGO:0030301 cholesterol transport IMP
 biological_processGO:0042157 lipoprotein metabolic process IMP
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0071501 cellular response to sterol depletion IDA
 biological_processGO:0098856 intestinal lipid absorption TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0044214 spanning component of plasma membrane IDA
 molecular_functionGO:0005319 lipid transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0031489 myosin V binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

1 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