AutismKB 2.0

Annotation Details for LDLR


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Basic Information Top
Gene Symbol:LDLR ( FH,FHC,LDLCQ2 )
Gene Full Name: low density lipoprotein receptor
Band: 19p13.2
Quick LinksEntrez ID:3949; OMIM: 606945; Uniprot ID:LDLR_HUMAN; ENSEMBL ID: ENSG00000130164; HGNC ID: 6547
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005764IDA-lysosome15166224
GO:0005769IDA-early endosome15166224
GO:0005770IDA-late endosome17461796
GO:0005794IDA-Golgi apparatus17461796
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane6327078
GO:0005905IDA-clathrin-coated pit6091915
GO:0009897IDA-external side of plasma membrane15166224
GO:0009986IDA-cell surface17461796
GO:0009986ISS-cell surface-
GO:0010008TAS-endosome membrane-
GO:0016020IDA-membrane19946888
GO:0016323ISS-basolateral plasma membrane-
GO:0030669TAS-clathrin-coated endocytic vesicle membrane-
GO:0034362IEA-low-density lipoprotein particle-
GO:0036020TAS-endolysosome membrane-
GO:0043235IDA-receptor complex23382219
GO:0045177ISS-apical part of cell-
GO:0097443IEA-sorting endosome-
GO:1990666IDA-PCSK9-LDLR complex22081141
GO ID Evidence Qualifier GO_term References
GO:0001618IEA-virus receptor activity-
GO:0001948IPI-glycoprotein binding10571240
GO:0002020IPI-protease binding22081141
GO:0005041IC-low-density lipoprotein receptor activity22848640
GO:0005041IDA-low-density lipoprotein receptor activity6091915
GO:0005041IMP-low-density lipoprotein receptor activity6299582
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding12221107
GO:0030169IMP-low-density lipoprotein particle binding6299582
GO:0030229IDA-very-low-density lipoprotein particle receptor activity8626535
GO:0032050TAS-clathrin heavy chain binding12121421
GO:0042802IPI-identical protein binding26526611
GO ID Evidence Qualifier GO_term References
GO:0006629TAS-lipid metabolic process6299582
GO:0006897TAS-endocytosis12671190
GO:0008203IEA-cholesterol metabolic process-
GO:0010628IEA-positive regulation of gene expression-
GO:0010629IEA-negative regulation of gene expression-
GO:0010867ISS-positive regulation of triglyceride biosynthetic process-
GO:0010899ISS-regulation of phosphatidylcholine catabolic process-
GO:0015914ISS-phospholipid transport-
GO:0030299IMP-intestinal cholesterol absorption17142622
GO:0030301IMP-cholesterol transport17142622
GO:0034382TAS-chylomicron remnant clearance-
GO:0034383IMP-low-density lipoprotein particle clearance6299582
GO:0034383TAS-low-density lipoprotein particle clearance-
GO:0042159IEA-lipoprotein catabolic process-
GO:0042632IMP-cholesterol homeostasis6299582
GO:0046718IEA-viral entry into host cell-
GO:0050729IEA-positive regulation of inflammatory response-
GO:0061024TAS-membrane organization-
GO:0070508IMP-cholesterol import6299582
GO:0070508ISS-cholesterol import-
GO:0071398IEA-cellular response to fatty acid-
GO:0071404IMP-cellular response to low-density lipoprotein particle stimulus6299582
GO:0090118IMP-receptor-mediated endocytosis involved in cholesterol transport6299582
GO:2000188IEA-regulation of cholesterol homeostasis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
LDLRCD361101419555943 Reconstituted Complex
LDLRCD361073869555943 Reconstituted Complex
LDLRDAB11079709837937 10827173 Reconstituted Complex; Two-hybrid
LDLRDAB11101419837937 10827173 Reconstituted Complex; Two-hybrid
LDLRDAB211014111247302 Reconstituted Complex
LDLRDAB210797111247302 Reconstituted Complex
LDLRHSPA510954110906332 Affinity Capture-MS
LDLRHSPA511014110906332 Affinity Capture-MS
LRPAP1LDLR1101417822276 Reconstituted Complex
LRPAP1LDLR1102217822276 Reconstituted Complex
AP1M2LDLR11536411157985 Affinity Capture-Western
AP1M2LDLR11014111157985 Affinity Capture-Western
PF4LDLR11014111986215 Reconstituted Complex
PF4LDLR11121911986215 Reconstituted Complex
SNX17LDLR11014112169628 Affinity Capture-Western; Reconstituted Complex
SNX17LDLR11512812169628 Affinity Capture-Western; Reconstituted Complex
LDLRAP1LDLR11014112221107 Reconstituted Complex
LDLRAP1LDLR11756112221107 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
LDLRMsp1, rs11668477, rs11669576, rs12983082, rs1433099, rs2228671, rs2738444, rs5925, rs5927, rs5930, rs688 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:96765
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-031217-1'