Reactome | UniProt:P01130 LDLR

chain	signal peptide:1-21 chain:22-860
checksum	A4C28E9B8BADAD5E
comment	FUNCTION Binds low density lipoprotein /LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Forms a ternary complex with PGRMC1 and TMEM97 receptors which increases LDLR-mediated LDL internalization (PubMed:30443021).FUNCTION (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.FUNCTION (Microbial infection) Acts as a receptor for Vesicular stomatitis virus.FUNCTION (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.FUNCTION (Microbial infection) Acts as a receptor for Crimean-Congo hemorrhagic fever virus (CCHFV).FUNCTION (Microbial infection) Acts as a receptor for many Alphavirus, including Getah virus (GETV), Ross river virus (RRV) and Semliki Forest virus.SUBUNIT Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity). Interacts (via NPXY motif) with LDLRAP1 (via PID domain) (PubMed:12221107, PubMed:22509010). Interacts with ARRB1 (PubMed:12944399). Interacts with SNX17 (PubMed:14739284). Interacts with the full-length immature form of PCSK9 (via C-terminus) (PubMed:17461796, PubMed:21149300). Interacts with PGRMC1 and TMEM97; the interaction increases LDL internalization (PubMed:30443021).SUBUNIT (Microbial infection) Interacts with C.difficile toxin TcdA, suggesting that it may contribute to TcdA toxin entry into cells.SUBUNIT (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.SUBUNIT (Microbial infection) Interacts with Crimean-Congo hemorrhagic fever virus (CCHFV) glycoprotein C.SUBUNIT (Microbial infection) Interacts with Getah virus (GETV) E2-E1 spike protein complex.SUBUNIT (Microbial infection) May interact with HIV-1 Tat.INTERACTION Rapidly endocytosed upon ligand binding. Localized at cell membrane, probably in lipid rafts, in serum-starved conditions (PubMed:30443021).ALTERNATIVE PRODUCTS The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.PTM N- and O-glycosylated.PTM Ubiquitinated by MYLIP leading to degradation.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the LDLR family.SEQUENCE CAUTION Extended N-terminus.ONLINE INFORMATION LDLR mutation database
crossReference	[DatabaseIdentifier:11832702] HMDB Protein:HMDBP02065 [DatabaseIdentifier:12816550] ZINC target:P01130 [DatabaseIdentifier:12813151] ZINC - Substances:LDLR_HUMAN [DatabaseIdentifier:12808960] ZINC - Predictions - Purchasable:LDLR_HUMAN [DatabaseIdentifier:12447005] RefSeq:NP_001182729.1 [DatabaseIdentifier:12447003] RefSeq:NP_001182728.1 [DatabaseIdentifier:12447007] RefSeq:NP_001182732.1 [DatabaseIdentifier:12447006] RefSeq:NP_000518.1 [DatabaseIdentifier:12447004] RefSeq:NP_001182727.1 [DatabaseIdentifier:12282712] Pharos - Targets:P01130 [DatabaseIdentifier:12260907] PRO:P01130 [DatabaseIdentifier:12161643] PDB:5OYL [DatabaseIdentifier:12161656] PDB:1AJJ [DatabaseIdentifier:12161653] PDB:3SO6 [DatabaseIdentifier:12161665] PDB:3P5C [DatabaseIdentifier:12161647] PDB:2W2O [DatabaseIdentifier:12161634] PDB:1F8Z [DatabaseIdentifier:12161642] PDB:2LGP [DatabaseIdentifier:12161663] PDB:3P5B [DatabaseIdentifier:12161651] PDB:1LDR [DatabaseIdentifier:12161637] PDB:9BD8 [DatabaseIdentifier:12161649] PDB:1D2J [DatabaseIdentifier:12161658] PDB:3BPS [DatabaseIdentifier:12161661] PDB:9BDE [DatabaseIdentifier:12161659] PDB:1F5Y [DatabaseIdentifier:12161639] PDB:9COO [DatabaseIdentifier:12161640] PDB:1XFE [DatabaseIdentifier:12161662] PDB:3GCX [DatabaseIdentifier:12161655] PDB:9BDT [DatabaseIdentifier:12155019] PDB:2M7P [DatabaseIdentifier:12161667] PDB:2MG9 [DatabaseIdentifier:12161664] PDB:1HJ7 [DatabaseIdentifier:12161650] PDB:2W2Q [DatabaseIdentifier:12161635] PDB:1HZ8 [DatabaseIdentifier:12161646] PDB:2W2N [DatabaseIdentifier:12161657] PDB:1IJQ [DatabaseIdentifier:12161668] PDB:1N7D [DatabaseIdentifier:12161638] PDB:1I0U [DatabaseIdentifier:12161641] PDB:1LDL [DatabaseIdentifier:12161636] PDB:2KRI [DatabaseIdentifier:12161648] PDB:2W2P [DatabaseIdentifier:12161660] PDB:3GCW [DatabaseIdentifier:12161644] PDB:3M0C [DatabaseIdentifier:12161645] PDB:2W2M [DatabaseIdentifier:12161666] PDB:4NE9 [DatabaseIdentifier:12161652] PDB:2FCW [DatabaseIdentifier:12161654] PDB:5OY9 [DatabaseIdentifier:12137092] Orphanet:LDLR [DatabaseIdentifier:12122391] OpenTargets:ENSG00000130164 [DatabaseIdentifier:11837891] HPA:ENSG00000130164-LDLR [DatabaseIdentifier:11508762] ENSEMBL:ENSG00000130164 [DatabaseIdentifier:11623098] ENSEMBL:ENSP00000437639 [DatabaseIdentifier:11623097] ENSEMBL:ENSP00000454071 [DatabaseIdentifier:11623099] ENSEMBL:ENSP00000440520 [DatabaseIdentifier:11623100] ENSEMBL:ENSP00000453346 [DatabaseIdentifier:11623096] ENSEMBL:ENSP00000397829 [DatabaseIdentifier:11745796] ENSEMBL:ENST00000455727 [DatabaseIdentifier:11745799] ENSEMBL:ENST00000535915 [DatabaseIdentifier:11745795] ENSEMBL:ENST00000558013 [DatabaseIdentifier:11745798] ENSEMBL:ENST00000545707 [DatabaseIdentifier:11745797] ENSEMBL:ENST00000558518 [DatabaseIdentifier:11784800] GeneCards:LDLR [DatabaseIdentifier:11800312] GlyGen:P01130
databaseName	UniProt
dbId	58475
description	recommendedName: Low-density lipoprotein receptor shortName: LDL receptor
displayName	UniProt:P01130 LDLR
geneName	LDLR
identifier	P01130
isSequenceChanged	false
keyword	3D-structure Alternative splicing Cell membrane Cholesterol metabolism Coated pit Direct protein sequencing Disease variant Disulfide bond EGF-like domain Endocytosis Endosome Glycoprotein Golgi apparatus Host cell receptor for virus entry Host-virus interaction LDL Lipid metabolism Lipid transport Lysosome Membrane Phosphoprotein Proteomics identification Receptor Reference proteome Repeat Signal Steroid metabolism Sterol metabolism Transmembrane Transmembrane helix Transport Ubl conjugation
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	LDLR
otherIdentifier	11720028_x_at 11720029_a_at 11746974_a_at 11748045_x_at 16858386 202067_PM_s_at 202067_s_at 202068_PM_s_at 202068_s_at 217173_PM_s_at 217173_s_at 32855_at 3821016 3821017 3821018 3821019 3821021 3821022 3821023 3821024 3821025 3821026 3821028 3821029 3821031 3821032 3821034 3821035 3821036 3821037 3821038 3821041 3821042 3821044 3821045 3821046 3821048 3821051 3821052 3821054 3821055 3949 8025828 A_14_P117693 A_23_P208595 A_24_P117029 GE61153 GO:0001523 GO:0001540 GO:0001618 GO:0001920 GO:0002020 GO:0005041 GO:0005509 GO:0005515 GO:0005764 GO:0005768 GO:0005769 GO:0005770 GO:0005794 GO:0005886 GO:0005905 GO:0006629 GO:0006869 GO:0006897 GO:0006898 GO:0006909 GO:0007616 GO:0008202 GO:0008203 GO:0009897 GO:0009986 GO:0010008 GO:0010605 GO:0010628 GO:0010629 GO:0010867 GO:0010899 GO:0010989 GO:0012505 GO:0015914 GO:0016020 GO:0016192 GO:0016323 GO:0022600 GO:0030163 GO:0030169 GO:0030229 GO:0030299 GO:0030301 GO:0030669 GO:0032050 GO:0034362 GO:0034381 GO:0034383 GO:0034384 GO:0036020 GO:0036477 GO:0038024 GO:0042157 GO:0042159 GO:0042632 GO:0042802 GO:0043235 GO:0044877 GO:0045177 GO:0046718 GO:0048844 GO:0048856 GO:0050729 GO:0050877 GO:0051241 GO:0051246 GO:0051248 GO:0051649 GO:0060090 GO:0060840 GO:0061771 GO:0061889 GO:0070508 GO:0071398 GO:0071404 GO:0071813 GO:0090118 GO:0090181 GO:0097242 GO:0097443 GO:0150094 GO:1903979 GO:1905167 GO:1905907 GO:1990666 HMNXSV003012466 HMNXSV003036182 HMNXSV003057635 Hs.213289.0.S1_3p_a_at Hs.213289.1.S1_3p_a_at ILMN_2053415 L00352_at PH_hs_0012331 TC19000191.hg g8051613_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-171053] LDLR [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-171105] LDLR [clathrin-coated endocytic vesicle membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-171127] LDLR [endosome membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6784818] LDLR [endolysosome membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000130164] ENSEMBL:ENSG00000130164 LDLR [ReferenceDNASequence:12761480] UCSC:P01130 LDLR [ReferenceDNASequence:12108001] OMIM:606945 LDLR [ReferenceDNASequence:12087571] NCBI Gene:3949 LDLR [ReferenceDNASequence:12003478] Monarch:3949 LDLR [ReferenceDNASequence:11911491] KEGG:hsa:3949 LDLR [ReferenceDNASequence:11373689] BioGPS Gene:3949 LDLR [ReferenceDNASequence:11402954] COSMIC - genes:LDLR LDLR [ReferenceDNASequence:11408935] CTD Gene:3949 LDLR [ReferenceDNASequence:11440502] dbSNP Gene:3949 LDLR [ReferenceDNASequence:11816425] HGNC:6547 LDLR
referenceTranscript	[ReferenceRNASequence:12628552] RefSeq:NM_000527.5 LDLR [ReferenceRNASequence:12628548] RefSeq:NM_001195803.2 LDLR [ReferenceRNASequence:12628550] RefSeq:NM_001195798.2 LDLR [ReferenceRNASequence:12628551] RefSeq:NM_001195799.2 LDLR [ReferenceRNASequence:12628549] RefSeq:NM_001195800.2 LDLR
schemaClass	ReferenceGeneProduct
secondaryIdentifier	LDLR_HUMAN B4DII3 B4DJZ8 B4DR00 B4DTQ3 C0JYY8 H0YLU8 H0YNT7 Q53ZD9 Q59FQ1 Q9UDH7
sequenceLength	860
species	[Species:48887] Homo sapiens
stId	uniprot:P01130
url	http://purl.uniprot.org/uniprot/P01130

UniProt:P01130 LDLR Show undefined attributes

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