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P01130

- LDLR_HUMAN

UniProt

P01130 - LDLR_HUMAN

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Protein
Low-density lipoprotein receptor
Gene
LDLR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Binds 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. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. glycoprotein binding Source: BHF-UCL
  3. low-density lipoprotein particle binding Source: Ensembl
  4. low-density lipoprotein receptor activity Source: BHF-UCL
  5. protein binding Source: UniProtKB
  6. very-low-density lipoprotein particle receptor activity Source: BHF-UCL

GO - Biological processi

  1. cholesterol homeostasis Source: BHF-UCL
  2. cholesterol import Source: BHF-UCL
  3. cholesterol metabolic process Source: UniProtKB-KW
  4. cholesterol transport Source: HGNC
  5. endocytosis Source: ProtInc
  6. intestinal cholesterol absorption Source: HGNC
  7. lipid metabolic process Source: ProtInc
  8. lipoprotein catabolic process Source: Ensembl
  9. lipoprotein metabolic process Source: Reactome
  10. low-density lipoprotein particle clearance Source: BHF-UCL
  11. phospholipid transport Source: BHF-UCL
  12. phototransduction, visible light Source: Reactome
  13. positive regulation of triglyceride biosynthetic process Source: BHF-UCL
  14. receptor-mediated endocytosis Source: Reactome
  15. regulation of phosphatidylcholine catabolic process Source: BHF-UCL
  16. retinoid metabolic process Source: Reactome
  17. small molecule metabolic process Source: Reactome
  18. viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Cholesterol metabolism, Endocytosis, Host-virus interaction, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

ReactomeiREACT_24968. Retinoid metabolism and transport.
REACT_6841. Chylomicron-mediated lipid transport.
REACT_6934. LDL-mediated lipid transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Low-density lipoprotein receptor
Short name:
LDL receptor
Gene namesi
Name:LDLR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6547. LDLR.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I membrane protein. Membraneclathrin-coated pit; Single-pass type I membrane protein. Golgi apparatus. Early endosome. Late endosome. Cell surface. Lysosome
Note: Found distributed from the plasma membrane to intracellular compartments. Localizes to the Golgi apparatus, early and late endosomes/lysosomes and cell surface in the presence of PCSK9.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 788767Extracellular Reviewed prediction
Add
BLAST
Transmembranei789 – 81022Helical; Reviewed prediction
Add
BLAST
Topological domaini811 – 86050Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. cell surface Source: UniProtKB
  3. clathrin-coated endocytic vesicle membrane Source: Reactome
  4. coated pit Source: BHF-UCL
  5. early endosome Source: UniProtKB
  6. endosome membrane Source: Reactome
  7. external side of plasma membrane Source: BHF-UCL
  8. integral component of plasma membrane Source: ProtInc
  9. late endosome Source: UniProtKB
  10. low-density lipoprotein particle Source: UniProtKB-KW
  11. lysosome Source: UniProtKB
  12. plasma membrane Source: Reactome
  13. receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Coated pit, Endosome, Golgi apparatus, LDL, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Familial hypercholesterolemia (FH) [MIM:143890]: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).
Note: The disease is caused by mutations affecting the gene represented in this entry.44 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461C → S in FH; Japanese patient. 1 Publication
VAR_013949
Natural varianti47 – 482Missing in FH; Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface.
VAR_005305
Natural varianti50 – 501A → S in FH; German patient. 1 Publication
Corresponds to variant rs137853960 [ dbSNP | Ensembl ].
VAR_007979
Natural varianti56 – 561S → P in FH. 1 Publication
VAR_007980
Natural varianti78 – 781R → C in FH.
VAR_005307
Natural varianti87 – 871W → G in FH; French Canadian-4. 1 Publication
VAR_005308
Natural varianti89 – 891C → Y in FH. 1 Publication
VAR_005309
Natural varianti90 – 901D → N in FH.
VAR_005311
Natural varianti90 – 901D → Y in FH; Durban-1. 1 Publication
VAR_005312
Natural varianti92 – 921Q → E in FH; Spanish patient.
VAR_005313
Natural varianti95 – 951C → G in FH; Spanish patient.
VAR_005314
Natural varianti101 – 1011E → K in FH; Lancashire; 6% of American English. 1 Publication
VAR_005315
Natural varianti116 – 1161C → R in FH; Spanish patient.
VAR_005317
Natural varianti134 – 1341C → F in FH. 1 Publication
VAR_062371
Natural varianti134 – 1341C → W in FH. 1 Publication
VAR_062372
Natural varianti140 – 1401E → K in FH; Philippines/Durban-2/Japan. 2 Publications
VAR_005318
Natural varianti160 – 1601C → Y in FH.
VAR_005320
Natural varianti168 – 1681D → H in FH; Sephardic/Safed; 10% of the Sephardic Jews. 1 Publication
VAR_005321
Natural varianti168 – 1681D → N in FH.
VAR_005322
Natural varianti168 – 1681D → Y in FH; Norwegian patient. 1 Publication
VAR_005323
Natural varianti173 – 1731C → W in FH; French Canadian patient. 1 Publication
VAR_005325
Natural varianti175 – 1751D → N in FH; Afrikaner-3; 5-10% of Afrikaners. 1 Publication
VAR_005326
Natural varianti175 – 1751D → Y in FH. 1 Publication
VAR_007981
Natural varianti177 – 1771S → L in FH; Puerto Rico. 1 Publication
VAR_005327
Natural varianti184 – 1841C → Y in FH; Glasco. 1 Publication
VAR_013951
Natural varianti197 – 1971C → R in FH; British patient. 1 Publication
VAR_005330
Natural varianti218 – 2181Missing in FH; Piscataway/Lithuania. 3 Publications
VAR_005331
Natural varianti221 – 2211D → G in FH; Padova. 2 Publications
VAR_005332
Natural varianti221 – 2211D → N in FH; German patient. 2 Publications
VAR_007982
Natural varianti221 – 2211D → Y in FH; Cologne patient. 1 Publication
VAR_005333
Natural varianti222 – 2221C → Y in FH. 1 Publication
VAR_062373
Natural varianti224 – 2241D → V in FH; Cologne patient. 1 Publication
VAR_005336
Natural varianti227 – 2271D → E in FH; Afrikaner-1/Maine; 65-70% of Afrikaner Americans. 1 Publication
VAR_005338
Natural varianti228 – 2281E → K in FH; French Canadian-3/Mexico; 2% of French Canadians. 1 Publication
VAR_005341
Natural varianti231 – 2311C → G in FH; Norwegian patient. 1 Publication
VAR_005342
Natural varianti248 – 2481C → Y in FH; British patient. 1 Publication
VAR_005345
Natural varianti254 – 2541Q → P in FH. 2 Publications
VAR_062374
Natural varianti261 – 2611C → F in FH; rare mutation; strongly reduced receptor activity. 1 Publication
VAR_013953
Natural varianti276 – 2761C → R in FH. 1 Publication
VAR_062375
Natural varianti276 – 2761C → Y in FH; Syrian patient. 1 Publication
VAR_005349
Natural varianti277 – 2771E → K in FH; patients from Sweden and La Havana. 2 Publications
Corresponds to variant rs148698650 [ dbSNP | Ensembl ].
VAR_005350
Natural varianti288 – 2881E → K in FH; German patient. 1 Publication
VAR_007983
Natural varianti301 – 3011D → A in FH; Greek patient. 1 Publication
VAR_005352
Natural varianti302 – 3021C → W in FH; Iraki patient. 1 Publication
VAR_005354
Natural varianti302 – 3021C → Y in FH; Spanish patient.
VAR_005353
Natural varianti313 – 3131C → Y in FH.
VAR_005358
Natural varianti318 – 3181C → F in FH; Trieste. 1 Publication
VAR_005360
Natural varianti318 – 3181C → R in FH. 1 Publication
VAR_062376
Natural varianti327 – 3271H → Y in FH.
VAR_005361
Natural varianti329 – 3291C → F in FH. 1 Publication
VAR_067196
Natural varianti329 – 3291C → Y in FH; Chinese patient. 1 Publication
VAR_005362
Natural varianti338 – 3381C → S in FH; Japanese patients. 2 Publications
VAR_005364
Natural varianti342 – 3421D → N in FH.
Corresponds to variant rs139361635 [ dbSNP | Ensembl ].
VAR_005366
Natural varianti350 – 3501R → P in FH; British patient. 1 Publication
VAR_005368
Natural varianti356 – 3561D → Y in FH. 2 Publications
VAR_007984
Natural varianti358 – 3581C → Y in FH. 2 Publications
VAR_062377
Natural varianti366 – 3661Q → R in FH. 1 Publication
VAR_007985
Natural varianti368 – 3681C → R in FH; French Canadian patient. 1 Publication
VAR_005374
Natural varianti370 – 3701N → T in FH. 1 Publication
VAR_062378
Natural varianti379 – 3791C → Y in FH. 1 Publication
VAR_007986
Natural varianti399 – 3991A → D in FH.
VAR_005376
Natural varianti401 – 4011L → V in FH. 1 Publication
VAR_007987
Natural varianti403 – 4031F → L in FH; Japanese patient. 1 Publication
VAR_008995
Natural varianti414 – 4141L → R in FH; Chinese patient. 1 Publication
VAR_005379
Natural varianti415 – 4151D → G in FH. 1 Publication
VAR_062379
Natural varianti416 – 4161R → Q in FH; German patient. 1 Publication
VAR_005380
Natural varianti416 – 4161R → W in FH. 1 Publication
VAR_005381
Natural varianti423 – 4231I → T in FH; Swedish patient. 1 Publication
VAR_005382
Natural varianti429 – 4291V → M in FH; Afrikaner-2; 20-30% of Afrikaners and 2% of FH Dutch. 4 Publications
Corresponds to variant rs28942078 [ dbSNP | Ensembl ].
VAR_005383
Natural varianti431 – 4311A → T in FH; Algeria-2. 1 Publication
Corresponds to variant rs28942079 [ dbSNP | Ensembl ].
VAR_005384
Natural varianti432 – 4321L → V in FH; German patient. 1 Publication
VAR_007988
Natural varianti433 – 4331D → H in FH; Osaka-3. 1 Publication
VAR_005385
Natural varianti451 – 4511I → T in FH. 2 Publications
VAR_062380
Natural varianti479 – 4791L → P in FH. 1 Publication
VAR_062381
Natural varianti482 – 4821D → H in FH. 1 Publication
VAR_005391
Natural varianti483 – 4831W → R in FH.
VAR_005392
Natural varianti487 – 4871Missing in FH; Norwegian patient. 1 Publication
VAR_005393
Natural varianti564 – 5641N → H in FH; French, German and Danish patients. 3 Publications
Corresponds to variant rs28942086 [ dbSNP | Ensembl ].
VAR_005399
Natural varianti564 – 5641N → S in FH; Sicily. 1 Publication
VAR_005400
Natural varianti568 – 5681L → V in FH; Japanese patient. 1 Publication
VAR_008996
Natural varianti579 – 5791D → N in FH; Cincinnati-4; less than 2% receptor activity. 1 Publication
VAR_005402
Natural varianti579 – 5791D → Y in FH. 1 Publication
VAR_062382
Natural varianti592 – 5921G → E in FH; Sicily. 1 Publication
VAR_005403
Natural varianti608 – 6081P → S in FH. 1 Publication
VAR_007989
Natural varianti633 – 6331R → C in FH.
VAR_005405
Natural varianti649 – 6491P → L in FH.
VAR_005406
Natural varianti667 – 6671C → Y in FH; French Canadian-2; 5% of French Canadians. 1 Publication
Corresponds to variant rs28942083 [ dbSNP | Ensembl ].
VAR_005407
Natural varianti677 – 6771C → R in FH; New York-3. 1 Publication
VAR_005408
Natural varianti685 – 6851P → L in FH; Gujerat/Zambia/Belgian/Dutch/Sweden/Japan. 5 Publications
Corresponds to variant rs28942084 [ dbSNP | Ensembl ].
VAR_005410
Natural varianti700 – 7001D → E in FH; Spanish patient.
VAR_005412
Natural varianti714 – 7141E → K in FH; Japanese patient. 1 Publication
VAR_008997
Natural varianti797 – 7971V → M in FH; La Havana patient. 1 Publication
VAR_005415
Natural varianti799 – 8013Missing in FH; Danish patient.
VAR_005416
Natural varianti814 – 8141R → Q Polymorphism that may contribute to FH. 2 Publications
Corresponds to variant rs5928 [ dbSNP | Ensembl ].
VAR_011864
Natural varianti820 – 8223Missing in FH.
VAR_005417
Natural varianti826 – 8261P → S in FH. 1 Publication
VAR_062383
Natural varianti828 – 8281Y → C in FH; J.D.Bari/Syria. 1 Publication
Corresponds to variant rs28942085 [ dbSNP | Ensembl ].
VAR_005419

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi811 – 8111K → 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. 2 Publications
Mutagenesisi816 – 8161K → 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. 2 Publications
Mutagenesisi828 – 8281Y → A: Abolishes interaction with ARRB2. 2 Publications
Mutagenesisi830 – 8301K → 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. 2 Publications
Mutagenesisi839 – 8391C → 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. 2 Publications
Mutagenesisi854 – 8541S → A: No effect on receptor internalization. 2 Publications
Mutagenesisi854 – 8541S → D: Enhances interaction with ARRB2 and receptor internalization. 2 Publications

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi143890. phenotype.
Orphaneti406. Heterozygous familial hypercholesterolemia.
391665. Homozygous familial hypercholesterolemia.
PharmGKBiPA227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121
Add
BLAST
Chaini22 – 860839Low-density lipoprotein receptor
PRO_0000017312Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi27 ↔ 392 Publications
Disulfide bondi34 ↔ 522 Publications
Disulfide bondi46 ↔ 632 Publications
Disulfide bondi68 ↔ 822 Publications
Disulfide bondi75 ↔ 952 Publications
Disulfide bondi89 ↔ 1042 Publications
Glycosylationi97 – 971N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi109 ↔ 121 By similarity
Disulfide bondi116 ↔ 1342 Publications
Disulfide bondi128 ↔ 1432 Publications
Disulfide bondi148 ↔ 1602 Publications
Disulfide bondi155 ↔ 1732 Publications
Glycosylationi156 – 1561N-linked (GlcNAc...)
Disulfide bondi167 ↔ 1842 Publications
Disulfide bondi197 ↔ 2092 Publications
Disulfide bondi204 ↔ 2222 Publications
Disulfide bondi216 ↔ 2312 Publications
Disulfide bondi236 ↔ 2482 Publications
Disulfide bondi243 ↔ 2612 Publications
Disulfide bondi255 ↔ 2702 Publications
Glycosylationi272 – 2721N-linked (GlcNAc...)
Disulfide bondi276 ↔ 2892 Publications
Disulfide bondi284 ↔ 3022 Publications
Disulfide bondi296 ↔ 3132 Publications
Disulfide bondi318 ↔ 3292 Publications
Disulfide bondi325 ↔ 3382 Publications
Disulfide bondi340 ↔ 3522 Publications
Disulfide bondi358 ↔ 3682 Publications
Disulfide bondi364 ↔ 3772 Publications
Disulfide bondi379 ↔ 3922 Publications
Glycosylationi515 – 5151N-linked (GlcNAc...) Reviewed prediction
Glycosylationi657 – 6571N-linked (GlcNAc...)3 Publications
Disulfide bondi667 ↔ 6812 Publications
Disulfide bondi677 ↔ 6962 Publications
Disulfide bondi698 ↔ 7112 Publications
Modified residuei724 – 7241Phosphothreonine By similarity

Post-translational modificationi

N- and O-glycosylated.2 Publications
Ubiquitinated by MYLIP leading to degradation.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP01130.
PaxDbiP01130.
PRIDEiP01130.

PTM databases

PhosphoSiteiP01130.
UniCarbKBiP01130.

Expressioni

Gene expression databases

ArrayExpressiP01130.
BgeeiP01130.
CleanExiHS_LDLR.
GenevestigatoriP01130.

Organism-specific databases

HPAiHPA009647.
HPA013159.

Interactioni

Subunit structurei

Interacts with LDLRAP1, ARRB1, SNX17. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts with the full length immature form of PCSK9 (via C-terminus). Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
APOBP041144EBI-988319,EBI-3926040
APOEP026492EBI-988319,EBI-1222467
PCSK9Q8NBP79EBI-988319,EBI-7539251

Protein-protein interaction databases

BioGridi110141. 18 interactions.
DIPiDIP-29695N.
IntActiP01130. 10 interactions.
MINTiMINT-3003796.
STRINGi9606.ENSP00000252444.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi29 – 335
Beta strandi35 – 373
Beta strandi39 – 413
Turni42 – 465
Beta strandi47 – 493
Beta strandi51 – 555
Helixi56 – 583
Turni60 – 623
Turni63 – 675
Beta strandi70 – 723
Beta strandi75 – 773
Beta strandi79 – 813
Helixi85 – 873
Beta strandi88 – 903
Beta strandi95 – 973
Turni99 – 1035
Beta strandi113 – 1153
Beta strandi121 – 1233
Helixi124 – 1263
Beta strandi129 – 1313
Turni138 – 1425
Helixi143 – 1475
Beta strandi148 – 1514
Beta strandi152 – 1543
Turni156 – 1583
Beta strandi160 – 1623
Helixi163 – 1653
Beta strandi168 – 1703
Beta strandi173 – 1764
Helixi177 – 1793
Helixi181 – 1833
Turni189 – 1913
Beta strandi201 – 2044
Turni205 – 2073
Beta strandi208 – 2114
Helixi212 – 2143
Beta strandi217 – 2193
Beta strandi222 – 2243
Helixi226 – 2283
Beta strandi241 – 2433
Turni244 – 2463
Beta strandi247 – 2493
Helixi251 – 2533
Beta strandi254 – 2585
Beta strandi260 – 2645
Helixi265 – 2673
Beta strandi268 – 2703
Beta strandi281 – 2833
Beta strandi289 – 2924
Turni293 – 2964
Beta strandi306 – 3083
Turni310 – 3123
Helixi317 – 3193
Helixi321 – 3244
Beta strandi326 – 3305
Beta strandi333 – 3353
Beta strandi337 – 3393
Beta strandi341 – 3433
Beta strandi345 – 3473
Turni348 – 3503
Beta strandi351 – 3533
Helixi357 – 3593
Beta strandi363 – 3697
Beta strandi372 – 3743
Beta strandi376 – 3783
Beta strandi381 – 3855
Turni387 – 3893
Beta strandi392 – 3943
Beta strandi400 – 4045
Beta strandi406 – 4138
Beta strandi420 – 4234
Beta strandi427 – 4359
Turni436 – 4394
Beta strandi440 – 4456
Turni446 – 4494
Beta strandi450 – 4556
Beta strandi466 – 4694
Beta strandi478 – 4825
Turni483 – 4864
Beta strandi487 – 4926
Turni493 – 4964
Beta strandi497 – 5026
Beta strandi505 – 5139
Beta strandi519 – 5257
Turni526 – 5294
Beta strandi530 – 5356
Beta strandi537 – 5393
Beta strandi541 – 5466
Beta strandi552 – 5565
Beta strandi563 – 5697
Turni570 – 5734
Beta strandi574 – 5796
Turni580 – 5834
Beta strandi584 – 5896
Beta strandi596 – 6005
Turni602 – 6054
Beta strandi606 – 6149
Beta strandi617 – 6226
Turni623 – 6264
Beta strandi627 – 6326
Turni633 – 6353
Beta strandi640 – 6434
Beta strandi652 – 6565
Helixi657 – 6593
Beta strandi668 – 6725
Helixi673 – 6764
Beta strandi678 – 6836
Beta strandi693 – 6975
Beta strandi708 – 7136
Beta strandi821 – 8244
Turni826 – 8294

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AJJX-ray1.70A196-232[»]
1D2JNMR-A233-272[»]
1F5YNMR-A22-104[»]
1F8ZNMR-A234-272[»]
1HJ7NMR-A314-393[»]
1HZ8NMR-A314-395[»]
1I0UNMR-A314-395[»]
1IJQX-ray1.50A/B398-713[»]
1LDLNMR-A20-67[»]
1LDRNMR-A64-104[»]
1LRXmodel-B396-659[»]
1N7DX-ray3.70A22-720[»]
1XFENMR-A272-353[»]
2FCWX-ray1.26B107-186[»]
2KRINMR-B147-186[»]
2LGPNMR-A144-235[»]
2M7PNMR-A82-104[»]
2MG9NMR-A314-339[»]
2W2MX-ray2.40E314-393[»]
2W2NX-ray2.30E314-393[»]
2W2OX-ray2.62E314-393[»]
2W2PX-ray2.62E314-393[»]
2W2QX-ray2.33E314-393[»]
3BPSX-ray2.41E314-393[»]
3GCWX-ray2.70E314-393[»]
3GCXX-ray2.70E314-393[»]
3M0CX-ray7.01C4-788[»]
3P5BX-ray3.30L316-715[»]
3P5CX-ray4.20L276-715[»]
3SO6X-ray1.37Q819-832[»]
ProteinModelPortaliP01130.
SMRiP01130. Positions 20-715.

Miscellaneous databases

EvolutionaryTraceiP01130.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini25 – 6541LDL-receptor class A 1
Add
BLAST
Domaini66 – 10641LDL-receptor class A 2
Add
BLAST
Domaini107 – 14539LDL-receptor class A 3
Add
BLAST
Domaini146 – 18641LDL-receptor class A 4
Add
BLAST
Domaini195 – 23339LDL-receptor class A 5
Add
BLAST
Domaini234 – 27239LDL-receptor class A 6
Add
BLAST
Domaini274 – 31340LDL-receptor class A 7
Add
BLAST
Domaini314 – 35340EGF-like 1
Add
BLAST
Domaini354 – 39340EGF-like 2; calcium-binding Reviewed prediction
Add
BLAST
Repeati397 – 43842LDL-receptor class B 1
Add
BLAST
Repeati439 – 48547LDL-receptor class B 2
Add
BLAST
Repeati486 – 52843LDL-receptor class B 3
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BLAST
Repeati529 – 57244LDL-receptor class B 4
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BLAST
Repeati573 – 61543LDL-receptor class B 5
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BLAST
Repeati616 – 65843LDL-receptor class B 6
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BLAST
Domaini663 – 71250EGF-like 3
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BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni721 – 76848Clustered O-linked oligosaccharides
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BLAST
Regioni811 – 86050Required for MYLIP-triggered down-regulation of LDLR
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BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi823 – 8286NPXY motif

Domaini

The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization By similarity.1 Publication

Sequence similaritiesi

Belongs to the LDLR family.
Contains 3 EGF-like domains.

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG255913.
HOGENOMiHOG000115656.
HOVERGENiHBG006250.
InParanoidiP01130.
KOiK12473.
OrthoDBiEOG7NGQ9P.
PhylomeDBiP01130.
TreeFamiTF351700.

Family and domain databases

Gene3Di2.120.10.30. 1 hit.
4.10.400.10. 7 hits.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR023415. LDLR_class-A_CS.
IPR000033. LDLR_classB_rpt.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF00057. Ldl_recept_a. 7 hits.
PF00058. Ldl_recept_b. 5 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00181. EGF. 2 hits.
SM00179. EGF_CA. 1 hit.
SM00192. LDLa. 7 hits.
SM00135. LY. 5 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
SSF57424. SSF57424. 7 hits.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 1 hit.
PS01209. LDLRA_1. 7 hits.
PS50068. LDLRA_2. 7 hits.
PS51120. LDLRB. 5 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P01130-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA    50
ECQDGSDESQ ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD 100
EQGCPPKTCS QDEFRCHDGK CISRQFVCDS DRDCLDGSDE ASCPVLTCGP 150
ASFQCNSSTC IPQLWACDND PDCEDGSDEW PQRCRGLYVF QGDSSPCSAF 200
EFHCLSGECI HSSWRCDGGP DCKDKSDEEN CAVATCRPDE FQCSDGNCIH 250
GSRQCDREYD CKDMSDEVGC VNVTLCEGPN KFKCHSGECI TLDKVCNMAR 300
DCRDWSDEPI KECGTNECLD NNGGCSHVCN DLKIGYECLC PDGFQLVAQR 350
RCEDIDECQD PDTCSQLCVN LEGGYKCQCE EGFQLDPHTK ACKAVGSIAY 400
LFFTNRHEVR KMTLDRSEYT SLIPNLRNVV ALDTEVASNR IYWSDLSQRM 450
ICSTQLDRAH GVSSYDTVIS RDIQAPDGLA VDWIHSNIYW TDSVLGTVSV 500
ADTKGVKRKT LFRENGSKPR AIVVDPVHGF MYWTDWGTPA KIKKGGLNGV 550
DIYSLVTENI QWPNGITLDL LSGRLYWVDS KLHSISSIDV NGGNRKTILE 600
DEKRLAHPFS LAVFEDKVFW TDIINEAIFS ANRLTGSDVN LLAENLLSPE 650
DMVLFHNLTQ PRGVNWCERT TLSNGGCQYL CLPAPQINPH SPKFTCACPD 700
GMLLARDMRS CLTEAEAAVA TQETSTVRLK VSSTAVRTQH TTTRPVPDTS 750
RLPGATPGLT TVEIVTMSHQ ALGDVAGRGN EKKPSSVRAL SIVLPIVLLV 800
FLCLGVFLLW KNWRLKNINS INFDNPVYQK TTEDEVHICH NQDGYSYPSR 850
QMVSLEDDVA 860
Length:860
Mass (Da):95,376
Last modified:July 21, 1986 - v1
Checksum:iA4C28E9B8BADAD5E
GO
Isoform 2 (identifier: P01130-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-232: Missing.
     663-713: Missing.

Note: No experimental confirmation available.

Show »
Length:682
Mass (Da):75,854
Checksum:iCE2D11319D31F398
GO
Isoform 3 (identifier: P01130-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-272: Missing.
     273-273: V → L

Note: No experimental confirmation available.

Show »
Length:692
Mass (Da):76,856
Checksum:i77A4DC253845DF78
GO
Isoform 4 (identifier: P01130-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-105: LSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCP → S

Note: No experimental confirmation available.

Show »
Length:819
Mass (Da):90,940
Checksum:iF27BBF8EBEA39BEB
GO
Isoform 5 (identifier: P01130-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     850-851: Missing.

Note: No experimental confirmation available.

Show »
Length:858
Mass (Da):95,092
Checksum:i8A50EA1033EB6E92
GO
Isoform 6 (identifier: P01130-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     35-155: Missing.

Note: No experimental confirmation available.

Show »
Length:739
Mass (Da):82,255
Checksum:iC0BFE8B8C908F9C8
GO

Sequence cautioni

The sequence BAD92646.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21G → R.1 Publication
Corresponds to variant rs5931 [ dbSNP | Ensembl ].
VAR_011862
Natural varianti27 – 271C → W in San Francisco.
VAR_005304
Natural varianti46 – 461C → S in FH; Japanese patient. 1 Publication
VAR_013949
Natural varianti47 – 482Missing in FH; Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface.
VAR_005305
Natural varianti50 – 501A → S in FH; German patient. 1 Publication
Corresponds to variant rs137853960 [ dbSNP | Ensembl ].
VAR_007979
Natural varianti52 – 521C → Y in Paris-4.
VAR_005306
Natural varianti56 – 561S → P in FH. 1 Publication
VAR_007980
Natural varianti78 – 781R → C in FH.
VAR_005307
Natural varianti87 – 871W → G in FH; French Canadian-4. 1 Publication
VAR_005308
Natural varianti89 – 891C → Y in FH. 1 Publication
VAR_005309
Natural varianti90 – 901D → G in London-4.
VAR_005310
Natural varianti90 – 901D → N in FH.
VAR_005311
Natural varianti90 – 901D → Y in FH; Durban-1. 1 Publication
VAR_005312
Natural varianti92 – 921Q → E in FH; Spanish patient.
VAR_005313
Natural varianti95 – 951C → G in FH; Spanish patient.
VAR_005314
Natural varianti101 – 1011E → K in FH; Lancashire; 6% of American English. 1 Publication
VAR_005315
Natural varianti105 – 1051P → S.
Corresponds to variant rs13306510 [ dbSNP | Ensembl ].
VAR_059375
Natural varianti109 – 1091C → R in Munster-1.
VAR_005316
Natural varianti116 – 1161C → R in FH; Spanish patient.
VAR_005317
Natural varianti134 – 1341C → F in FH. 1 Publication
VAR_062371
Natural varianti134 – 1341C → W in FH. 1 Publication
VAR_062372
Natural varianti139 – 1391D → H Found in a patient with hypercholesterolemia. 1 Publication
VAR_065780
Natural varianti140 – 1401E → K in FH; Philippines/Durban-2/Japan. 2 Publications
VAR_005318
Natural varianti155 – 1551C → G in Germany.
VAR_005319
Natural varianti160 – 1601C → Y in FH.
VAR_005320
Natural varianti168 – 1681D → H in FH; Sephardic/Safed; 10% of the Sephardic Jews. 1 Publication
VAR_005321
Natural varianti168 – 1681D → N in FH.
VAR_005322
Natural varianti168 – 1681D → Y in FH; Norwegian patient. 1 Publication
VAR_005323
Natural varianti172 – 1721D → H May contribute to familial hypercholesterolemia. 1 Publication
VAR_013950
Natural varianti173 – 1731C → R in Greece-1.
VAR_005324
Natural varianti173 – 1731C → W in FH; French Canadian patient. 1 Publication
VAR_005325
Natural varianti175 – 1751D → N in FH; Afrikaner-3; 5-10% of Afrikaners. 1 Publication
VAR_005326
Natural varianti175 – 1751D → Y in FH. 1 Publication
VAR_007981
Natural varianti177 – 1771S → L in FH; Puerto Rico. 1 Publication
VAR_005327
Natural varianti184 – 1841C → Y in FH; Glasco. 1 Publication
VAR_013951
Natural varianti197 – 1971C → F in Shreveport.
VAR_005328
Natural varianti197 – 1971C → R in FH; British patient. 1 Publication
VAR_005330
Natural varianti197 – 1971C → Y in El Salvador-1.
VAR_005329
Natural varianti201 – 2011E → K Found in a patient with hypercholesterolemia. 1 Publication
VAR_065781
Natural varianti218 – 2181Missing in FH; Piscataway/Lithuania. 3 Publications
VAR_005331
Natural varianti221 – 2211D → G in FH; Padova. 2 Publications
VAR_005332
Natural varianti221 – 2211D → N in FH; German patient. 2 Publications
VAR_007982
Natural varianti221 – 2211D → Y in FH; Cologne patient. 1 Publication
VAR_005333
Natural varianti222 – 2221C → Y in FH. 1 Publication
VAR_062373
Natural varianti224 – 2241D → G in Italy-2.
VAR_005335
Natural varianti224 – 2241D → N in Portugal.
VAR_005334
Natural varianti224 – 2241D → V in FH; Cologne patient. 1 Publication
VAR_005336
Natural varianti226 – 2261S → P in Miami-1.
VAR_005337
Natural varianti227 – 2271D → E in FH; Afrikaner-1/Maine; 65-70% of Afrikaner Americans. 1 Publication
VAR_005338
Natural varianti228 – 2281E → CK in Chieti-3.
VAR_005339
Natural varianti228 – 2281E → K in FH; French Canadian-3/Mexico; 2% of French Canadians. 1 Publication
VAR_005341
Natural varianti228 – 2281E → Q in Tulsa-2.
VAR_005340
Natural varianti231 – 2311C → G in FH; Norwegian patient. 1 Publication
VAR_005342
Natural varianti240 – 2401E → K in Charlotte.
VAR_005343
Natural varianti248 – 2481C → F in Bretagne-1.
VAR_005344
Natural varianti248 – 2481C → Y in FH; British patient. 1 Publication
VAR_005345
Natural varianti253 – 2531R → W May contribute to familial hypercholesterolemia. 1 Publication
VAR_013952
Natural varianti254 – 2541Q → P in FH. 2 Publications
VAR_062374
Natural varianti255 – 2551C → S Found in a patient with hypercholesterolemia. 1 Publication
VAR_065782
Natural varianti256 – 2561D → G in Nevers.
VAR_005346
Natural varianti261 – 2611C → F in FH; rare mutation; strongly reduced receptor activity. 1 Publication
VAR_013953
Natural varianti266 – 2661D → E in Cincinnati-1.
VAR_005347
Natural varianti270 – 2701C → Y in Miami-2.
VAR_005348
Natural varianti276 – 2761C → R in FH. 1 Publication
VAR_062375
Natural varianti276 – 2761C → Y in FH; Syrian patient. 1 Publication
VAR_005349
Natural varianti277 – 2771E → K in FH; patients from Sweden and La Havana. 2 Publications
Corresponds to variant rs148698650 [ dbSNP | Ensembl ].
VAR_005350
Natural varianti286 – 2861S → R in Greece-2.
VAR_005351
Natural varianti288 – 2881E → K in FH; German patient. 1 Publication
VAR_007983
Natural varianti301 – 3011D → A in FH; Greek patient. 1 Publication
VAR_005352
Natural varianti302 – 3021C → W in FH; Iraki patient. 1 Publication
VAR_005354
Natural varianti302 – 3021C → Y in FH; Spanish patient.
VAR_005353
Natural varianti304 – 3041D → E in Baltimore-1.
VAR_005356
Natural varianti304 – 3041D → N in Denver-2. 1 Publication
VAR_005355
Natural varianti306 – 3061S → L in Amsterdam.
Corresponds to variant rs11547917 [ dbSNP | Ensembl ].
VAR_005357
Natural varianti313 – 3131C → Y in FH.
VAR_005358
Natural varianti318 – 3181C → F in FH; Trieste. 1 Publication
VAR_005360
Natural varianti318 – 3181C → R in FH. 1 Publication
VAR_062376
Natural varianti318 – 3181C → Y in Mexico-1; leads to a defect in the intracellular transport of the receptor.
VAR_005359
Natural varianti327 – 3271H → Y in FH.
VAR_005361
Natural varianti329 – 3291C → F in FH. 1 Publication
VAR_067196
Natural varianti329 – 3291C → Y in FH; Chinese patient. 1 Publication
VAR_005362
Natural varianti335 – 3351G → S in Paris-6.
VAR_005363
Natural varianti338 – 3381C → S