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Gene Information
Gene ID:3949
Symbol:LDLR
Full Name:low density lipoprotein receptor (familial hypercholesterolemia)
Alias:FH|FHC
Organism:Homo sapiens (Human)
Chromosome:19
Genetic Location:19p13.3
Physical Location:11061131-11105489 on NC_000019.8
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:LDLR
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000527.3NP_000518.1NC_000019.8 range: 11061131..11105489
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0010008endosome membraneCellular ComponentEXP (221835)
GO:0016020membraneCellular ComponentIEA
GO:0030669clathrin-coated endocytic vesicle membraneCellular ComponentEXP (221835)
GO:0005905coated pitCellular ComponentIEA
GO:0005887integral to plasma membraneCellular ComponentTAS (6327078)
GO:0005886plasma membraneCellular ComponentTAS (2777800)
GO:0005886plasma membraneCellular ComponentEXP (221835|8300609)
GO:0004888transmembrane receptor activityMolecular FunctionTAS (6091915)
GO:0008034lipoprotein bindingMolecular FunctionTAS (6091915)
GO:0030229very-low-density lipoprotein receptor activityMolecular FunctionIDA (8626535)
GO:0004872receptor activityMolecular FunctionIEA
GO:0005041low-density lipoprotein receptor activityMolecular FunctionTAS (2777800)
GO:0005319lipid transporter activityMolecular FunctionIEA
GO:0005509calcium ion bindingMolecular FunctionIEA
GO:0030301cholesterol transportBiological ProcessIMP (17142622)
GO:0030299cholesterol absorptionBiological ProcessIMP (17142622)
GO:0008203cholesterol metabolic processBiological ProcessIEA
GO:0008202steroid metabolic processBiological ProcessIEA
GO:0006897endocytosisBiological ProcessTAS (12671190)
GO:0006869lipid transportBiological ProcessIEA
GO:0006629lipid metabolic processBiological ProcessTAS (6299582|10827173)
GO:0006493protein amino acid O-linked glycosylationBiological ProcessTAS (6091915)
GO:0042157lipoprotein metabolic processBiological ProcessIMP (17142622)
Other Database Cross Links
NCBI Entrez Gene:3949
HGNC:6547
Ensembl:ENSG00000130164
MIM:606945
HPRD:06091
HuGE Navigator:3949
dbSNP:LDLR
GeneCard:LDLR
AceView:LDLR