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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
LDLR 3949 low density lipoprotein receptor  19LDLCQ2 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
11299774   2001Cell line : -

Source : -

Sample Type : -

No. of Sample : 32

Stage : -

 Immunoenzymatic assay,real time RT-PCRDown-regulation-The variable expression of the LDLR protein and LDLR mRNA in CRC detected in this study suggests the possibility that different therapeutic strategies may be indicated for these tumours.


Gene Details



NC_000019.9 (11200037..11244506)

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Gene Type protein coding
Gene Family Low density lipoprotein receptors
Description The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]  
Chromosome 19
Location 19p13.2
Start 11200037  
End 11244506  
Strand +  
Gene Sequence

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Length 44470  
OMIM ID 606945   
HGNC ID HGNC:6547   
Unigene ID Hs.213289   
Ensembl ID ENSG00000130164   
PharmGKB ID PA227   

mRNA Information


mRNA ID NM_000527.4
Exon join(1..254,10862..10984,13303..13425,15859..16239, 17204..17326,18031..18153,21291..21410,22153..22278, 23917..24088,24174..24401,26733..26851,27498..27637, 30731..30872,31009..31161,33813..33983,38647..38724, 40152..40309,41920..44469)  
mRNA Sequence

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Length 5292  



CDS Information


   
Location 188..2770
CDS Sequence

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CCDS ID CCDS12254.1



Protein Information


      
Protein IDNP_000518.1
Protein Namelow density lipoprotein receptor
Molecular Wt. (Da)18381
Protein Sequence

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Length 860  
Uniprot IDP20823
Ensembl Protein ID ENSP00000443964  



Post-translational Modification Information (Source : HPRD)


Residue Type site
YPhosphorylation845;-
YPhosphorylation847
SPhosphorylation397
TPhosphorylation404

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                        
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
338APOB133NP_000375.2in vivo12031600   
348APOE135NP_000032.1in vitro;in vivo12036962   
1600DAB14582NP_066566.3in vitro;in vivo103   809   229   837   937   
3309HSPA5682NP_005338.1in vivo10906332   
4043LRPAP182NP_002328.1in vitro;in vivo7822276   
5196PF41426NP_002610.1in vivo11986215   
9784SNX175812NP_055563.1in vitro;in vivo12169628   
26119LDLRAP15765NP_056442.2in vitro1   222   110   712   746   440   


Pathway Information


                                    
Pathway Name Pathway ID
Aldosterone synthesis and secretion hsa04925
Bile secretion hsa04976
Endocytosis hsa04144
Hepatitis C hsa05160
Ovarian steroidogenesis hsa04913
Toxoplasmosis hsa05145


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd00112109-143  LDLa
cl00104109-143  LDLa superfamily
cd00112197-231  LDLa
cl00104197-231  LDLa superfamily
cd00112236-270  LDLa
cl00104236-270  LDLa superfamily
cd00112148-180  LDLa
cl00104148-180  LDLa superfamily
cd0011227-58  LDLa
cl0010427-58  LDLa superfamily
cd0011268-104  LDLa
cl0010468-104  LDLa superfamily
cd00112278-308  LDLa
cl00104278-308  LDLa superfamily
cd00054354-386  EGF_CA
cl21504354-386  EGF_CA superfamily
pfam00058529-569  Ldl_recept_b
cl22870529-569  Ldl_recept_b superfamily
pfam00057195-231  Ldl_recept_a
pfam00057107-143  Ldl_recept_a
pfam00058487-525  Ldl_recept_b
cl22870487-525  Ldl_recept_b superfamily
pfam00057147-179  Ldl_recept_a
pfam00057235-270  Ldl_recept_a
pfam0005725-58  Ldl_recept_a
smart00135553-595  LY
cl22866553-595  LY superfamily
pfam0005766-104  Ldl_recept_a
pfam00058439-482  Ldl_recept_b
cl22870439-482  Ldl_recept_b superfamily
pfam00058573-614  Ldl_recept_b
cl22870573-614  Ldl_recept_b superfamily
pfam00058616-655  Ldl_recept_b
cl22870616-655  Ldl_recept_b superfamily
smart00192108-140  LDLa
smart00135467-508  LY
cl22866467-508  LY superfamily
smart00192147-179  LDLa
smart00192197-228  LDLa
smart00192235-267  LDLa
smart0019226-58  LDLa
pfam00057278-308  Ldl_recept_a
smart0019267-101  LDLa
smart00135509-549  LY
cl22866509-549  LY superfamily
smart00179354-388  EGF_CA
cd14963466-628  NHL_like_5
cl18310466-628  NHL superfamily
cd14962473-613  NHL_like_6
pfam14670318-346  FXa_inhibition
cl21504318-346  EGF_CA superfamily
cd05819476-625  NHL
pfam14670671-711  FXa_inhibition
cl21504671-711  EGF_CA superfamily
smart00192278-308  LDLa
cd14963474-617  NHL_like_5
cd01475352-391  vWA_Matrilin
cl00057352-391  vWFA superfamily
pfam14670364-392  FXa_inhibition
pfam07645354-392  EGF_CA
cd05819476-585  NHL
smart00135419-457  LY
cl22866419-457  LY superfamily
cd00053357-388  EGF
pfam12662335-357  cEGF
COG3391460-594  YncE
pfam06247336-386  Plasmod_Pvs28


Ontology Information


   
HPRD ID918
Molecular ClassCell surface receptor
Molecular FunctionTranscription factor activity (GO:0003700)
Biological ProcessRegulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)  



SNP Information


View SNP Geneview Report   

Drug Information


Uniprot ID DrugBank ID Name Type
P01130DB00707PorfimerSmallMoleculeDrug

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO