LDLR
entrez
3949
canonical
uniprot
P01130
canonical
ensembl
ENSG00000130164
resolver
ensp
ENSP00000397829
resolver
ensp
ENSP00000437639
resolver
ensp
ENSP00000440520
resolver
ensp
ENSP00000453346
resolver
ensp
ENSP00000453696
resolver
ensp
ENSP00000454071
resolver
ensp
ENSP00000526705
resolver
enst
ENST00000559340
resolver
genesymbol
LDLR
resolver
hgnc
HGNC:6547
resolver
uniprot
B4DII3
resolver
uniprot
B4DJZ8
resolver
uniprot
B4DR00
resolver
uniprot
B4DTQ3
resolver
uniprot
C0JYY8
resolver
uniprot
H0YLU8
resolver
uniprot
H0YMQ3
resolver
uniprot
H0YNT7
resolver
uniprot
Q53ZD9
resolver
uniprot
Q59FQ1
resolver
uniprot
Q9UDH7
resolver
uniprot_entry
H0YMQ3_HUMAN
resolver
uniprot_entry
LDLR_HUMAN
resolver
uniprot_sec
B4DII3
resolver
uniprot_sec
B4DJZ8
resolver
uniprot_sec
B4DR00
resolver
uniprot_sec
B4DTQ3
resolver
uniprot_sec
C0JYY8
resolver
uniprot_sec
H0YLU8
resolver
uniprot_sec
H0YNT7
resolver
uniprot_sec
Q53ZD9
resolver
uniprot_sec
Q59FQ1
resolver
uniprot_sec
Q9UDH7
resolver
amino_acid_sequence
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA
uniprot
proteins
disease_involvement
DISEASE: Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890]: A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant. {ECO:0000269|PubMed:10090484, ECO:0000269|PubMed:10206683, ECO:0000269|PubMed:10422803, ECO:0000269|PubMed:10447263, ECO:0000269|PubMed:10532689, ECO:0000269|PubMed:10660340, ECO:0000269|PubMed:10882754, ECO:0000269|PubMed:10978268, ECO:0000269|PubMed:10980548, ECO:0000269|PubMed:11298688, ECO:0000269|PubMed:11462246, ECO:0000269|PubMed:1301956, ECO:0000269|PubMed:1446662, ECO:0000269|PubMed:1464748, ECO:0000269|PubMed:17142622, ECO:0000269|PubMed:17347910, ECO:0000269|PubMed:1867200, ECO:0000269|PubMed:19318025, ECO:0000269|PubMed:19319977, ECO:0000269|PubMed:21418584, ECO:0000269|PubMed:22160468, ECO:0000269|PubMed:22509010, ECO:0000269|PubMed:2318961, ECO:0000269|PubMed:24529145, ECO:0000269|PubMed:25378237, ECO:0000269|PubMed:25545329, ECO:0000269|PubMed:2569482, ECO:0000269|PubMed:2726768, ECO:0000269|PubMed:3263645, ECO:0000269|PubMed:3955657, ECO:0000269|PubMed:7550239, ECO:0000269|PubMed:7573037, ECO:0000269|PubMed:7583548, ECO:0000269|PubMed:7635461, ECO:0000269|PubMed:7635482, ECO:0000269|PubMed:7649546, ECO:0000269|PubMed:7649549, ECO:0000269|PubMed:8168830, ECO:0000269|PubMed:8347689, ECO:0000269|PubMed:8462973, ECO:0000269|PubMed:8664907, ECO:0000269|PubMed:8740918, ECO:0000269|PubMed:9026534, ECO:0000269|PubMed:9104431, ECO:0000269|PubMed:9143924, ECO:0000269|PubMed:9254862, ECO:0000269|PubMed:9259195, ECO:0000269|PubMed:9452094, ECO:0000269|PubMed:9452095, ECO:0000269|PubMed:9452118, ECO:0000269|PubMed:9654205, ECO:0000269|PubMed:9678702, ECO:0000269|PubMed:9852677, ECO:0000269|Ref.75}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:3005267, ECO:0000269|PubMed:30443021, ECO:0000269|PubMed:6091915}.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins. {ECO:0000269|PubMed:10535997, ECO:0000269|PubMed:12615904}.; FUNCTION: (Microbial infection) Acts as a receptor for Vesicular stomatitis virus. {ECO:0000269|PubMed:23589850}.; 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. {ECO:0000269|PubMed:11100124}.; FUNCTION: (Microbial infection) Acts as a receptor for Crimean-Congo hemorrhagic fever virus (CCHFV). {ECO:0000269|PubMed:38182887}.; FUNCTION: (Microbial infection) Acts as a receptor for many Alphavirus, including Getah virus (GETV), Ross river virus (RRV) and Semliki Forest virus. {ECO:0000269|PubMed:38245515}.
uniprot
proteins
mass_dalton
95376
uniprot
proteins
mutagenesis
MUTAGEN 165; /note="W->I: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 168; /note="D->K: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 175; /note="D->K: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 208; /note="E->R: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 214; /note="W->I: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 217; /note="D->K: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 224; /note="D->K: Partial loss of binding to Getah virus E2-E1 spike glycoproteins."; /evidence="ECO:0000269|PubMed:38245515"; MUTAGEN 811; /note="K->R: No change. No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839."; /evidence="ECO:0000269|PubMed:19520913"; MUTAGEN 816; /note="K->R: No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839."; /evidence="ECO:0000269|PubMed:19520913"; MUTAGEN 821; /note="I->A: 3-fold decreased affinity for LDLRAP1."; /evidence="ECO:0000269|PubMed:22509010"; MUTAGEN 821; /note="I->R: 10-fold decreased affinity for LDLRAP1."; /evidence="ECO:0000269|PubMed:22509010"; MUTAGEN 828; /note="Y->A: Abolishes interaction with ARRB2."; /evidence="ECO:0000269|PubMed:12944399"; MUTAGEN 829; /note="Q->A: Decreased affinity for LDLRAP1."; /evidence="ECO:0000269|PubMed:22509010"; MUTAGEN 830; /note="K->R: No change. No change; when associated with R-816. No change; when associated with R-811 and R-816. Insensitive to MYLIP-triggered degradation; when associated with A-839. Insensitive to MYLIP-triggered degradation; when associated with R-816 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and A-839."; /evidence="ECO:0000269|PubMed:19520913"; MUTAGEN 839; /note="C->A: No change. Insensitive to MYLIP-triggered degradation; when associated with R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and R-830."; /evidence="ECO:0000269|PubMed:19520913"; MUTAGEN 854; /note="S->A: No effect on receptor internalization."; /evidence="ECO:0000269|PubMed:12944399"; MUTAGEN 854; /note="S->D: Enhances interaction with ARRB2 and receptor internalization."; /evidence="ECO:0000269|PubMed:12944399
uniprot
proteins
post_translational_modification
PTM: N- and O-glycosylated. {ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19520913, ECO:0000269|PubMed:3005267}.; PTM: Ubiquitinated by MYLIP leading to degradation. {ECO:0000269|PubMed:19520913}.
uniprot
proteins
protein_family
LDLR family
uniprot
proteins
pubmed
10090484
uniprot
proteins
pubmed
10206683
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10422803
uniprot
proteins
pubmed
10447263
uniprot
proteins
pubmed
10532689
uniprot
proteins
pubmed
10535997
uniprot
proteins
pubmed
10660340
uniprot
proteins
pubmed
10882754
uniprot
proteins
pubmed
10933493
uniprot
proteins
pubmed
10978268
uniprot
proteins
pubmed
10980548
uniprot
proteins
pubmed
11100124
uniprot
proteins
pubmed
11298688
uniprot
proteins
pubmed
11462246
uniprot
proteins
pubmed
12221107
uniprot
proteins
pubmed
12459547
uniprot
proteins
pubmed
12615904
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
12944399
uniprot
proteins
pubmed
1301956
uniprot
proteins
pubmed
1446662
uniprot
proteins
pubmed
1464748
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14739284
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
17142622
uniprot
proteins
pubmed
17347910
uniprot
proteins
pubmed
17461796
uniprot
proteins
pubmed
1867200
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19318025
uniprot
proteins
pubmed
19319977
uniprot
proteins
pubmed
19520913
uniprot
proteins
pubmed
21149300
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21418584
uniprot
proteins
pubmed
22160468
uniprot
proteins
pubmed
22509010
uniprot
proteins
pubmed
2318961
uniprot
proteins
pubmed
23589850
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24529145
uniprot
proteins
pubmed
25378237
uniprot
proteins
pubmed
25545329
uniprot
proteins
pubmed
2569482
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2726768
uniprot
proteins
pubmed
2988123
uniprot
proteins
pubmed
3005267
uniprot
proteins
pubmed
30443021
uniprot
proteins
pubmed
3104336
uniprot
proteins
pubmed
31160825
uniprot
proteins
pubmed
3263645
uniprot
proteins
pubmed
38182887
uniprot
proteins
pubmed
38245515
uniprot
proteins
pubmed
3955657
uniprot
proteins
pubmed
6091915
uniprot
proteins
pubmed
7550239
uniprot
proteins
pubmed
7573037
uniprot
proteins
pubmed
7578052
uniprot
proteins
pubmed
7583548
uniprot
proteins
pubmed
7603991
uniprot
proteins
pubmed
7635461
uniprot
proteins
pubmed
7635482
uniprot
proteins
pubmed
7649546
uniprot
proteins
pubmed
7649549
uniprot
proteins
pubmed
8127891
uniprot
proteins
pubmed
8168830
uniprot
proteins
pubmed
8347689
uniprot
proteins
pubmed
8462973
uniprot
proteins
pubmed
8664907
uniprot
proteins
pubmed
8740918
uniprot
proteins
pubmed
9016531
uniprot
proteins
pubmed
9026534
uniprot
proteins
pubmed
9104431
uniprot
proteins
pubmed
9143924
uniprot
proteins
pubmed
9254862
uniprot
proteins
pubmed
9259195
uniprot
proteins
pubmed
9262405
uniprot
proteins
pubmed
9452094
uniprot
proteins
pubmed
9452095
uniprot
proteins
pubmed
9452118
uniprot
proteins
pubmed
9654205
uniprot
proteins
pubmed
9678702
uniprot
proteins
pubmed
9852677
uniprot
proteins
sequence_length
860
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17461796, ECO:0000269|PubMed:19520913}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P01131}. Membrane, clathrin-coated pit {ECO:0000303|PubMed:6091915}. Golgi apparatus {ECO:0000269|PubMed:17461796}. Early endosome {ECO:0000269|PubMed:17461796}. Late endosome {ECO:0000269|PubMed:17461796}. Lysosome {ECO:0000269|PubMed:17461796}. Note=Rapidly endocytosed upon ligand binding. Localized at cell membrane, probably in lipid rafts, in serum-starved conditions (PubMed:30443021). {ECO:0000269|PubMed:30443021, ECO:0000269|PubMed:3104336}.
uniprot
proteins
transmembrane_region
TRANSMEM 789..810; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins