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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. 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 cholesterol homeostasis Source: Ensembl
  16. regulation of phosphatidylcholine catabolic process Source: BHF-UCL
  17. retinoid metabolic process Source: Reactome
  18. small molecule metabolic process Source: Reactome
  19. 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 788767ExtracellularSequence AnalysisAdd
BLAST
Transmembranei789 – 81022HelicalSequence AnalysisAdd
BLAST
Topological domaini811 – 86050CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell surface Source: UniProtKB
  2. clathrin-coated endocytic vesicle membrane Source: Reactome
  3. coated pit Source: BHF-UCL
  4. early endosome Source: UniProtKB
  5. endosome membrane Source: Reactome
  6. external side of plasma membrane Source: BHF-UCL
  7. Golgi apparatus Source: UniProtKB
  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. membrane Source: UniProtKB
  13. plasma membrane Source: Reactome
  14. 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).44 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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. 2 Publications
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. 1 Publication
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. 1 Publication
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. 1 Publication
Mutagenesisi828 – 8281Y → A: Abolishes interaction with ARRB2. 1 Publication
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. 1 Publication
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. 1 Publication
Mutagenesisi854 – 8541S → A: No effect on receptor internalization. 1 Publication
Mutagenesisi854 – 8541S → D: Enhances interaction with ARRB2 and receptor internalization. 1 Publication

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 – 2121Add
BLAST
Chaini22 – 860839Low-density lipoprotein receptorPRO_0000017312Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi27 ↔ 39
Disulfide bondi34 ↔ 52
Disulfide bondi46 ↔ 63
Disulfide bondi68 ↔ 82
Disulfide bondi75 ↔ 95
Disulfide bondi89 ↔ 104
Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi109 ↔ 121By similarity
Disulfide bondi116 ↔ 134
Disulfide bondi128 ↔ 143
Disulfide bondi148 ↔ 160
Disulfide bondi155 ↔ 173
Glycosylationi156 – 1561N-linked (GlcNAc...)1 Publication
Disulfide bondi167 ↔ 184
Disulfide bondi197 ↔ 209
Disulfide bondi204 ↔ 222
Disulfide bondi216 ↔ 231
Disulfide bondi236 ↔ 248
Disulfide bondi243 ↔ 261
Disulfide bondi255 ↔ 270
Glycosylationi272 – 2721N-linked (GlcNAc...)1 Publication
Disulfide bondi276 ↔ 289
Disulfide bondi284 ↔ 302
Disulfide bondi296 ↔ 313
Disulfide bondi318 ↔ 329
Disulfide bondi325 ↔ 338
Disulfide bondi340 ↔ 352
Disulfide bondi358 ↔ 368
Disulfide bondi364 ↔ 377
Disulfide bondi379 ↔ 392
Glycosylationi515 – 5151N-linked (GlcNAc...)Sequence Analysis
Glycosylationi657 – 6571N-linked (GlcNAc...)3 Publications
Disulfide bondi667 ↔ 681
Disulfide bondi677 ↔ 696
Disulfide bondi698 ↔ 711
Modified residuei724 – 7241PhosphothreonineBy similarity

Post-translational modificationi

N- and O-glycosylated.4 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

BgeeiP01130.
CleanExiHS_LDLR.
ExpressionAtlasiP01130. baseline and differential.
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. 22 interactions.
DIPiDIP-29695N.
IntActiP01130. 11 interactions.
MINTiMINT-3003796.
STRINGi9606.ENSP00000252444.

Structurei

Secondary structure

1
860
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi29 – 335Combined sources
Beta strandi35 – 373Combined sources
Beta strandi39 – 413Combined sources
Turni42 – 465Combined sources
Beta strandi47 – 493Combined sources
Beta strandi51 – 555Combined sources
Helixi56 – 583Combined sources
Turni60 – 623Combined sources
Turni63 – 675Combined sources
Beta strandi70 – 723Combined sources
Beta strandi75 – 773Combined sources
Beta strandi79 – 813Combined sources
Helixi85 – 873Combined sources
Beta strandi88 – 903Combined sources
Beta strandi95 – 973Combined sources
Turni99 – 1035Combined sources
Beta strandi113 – 1153Combined sources
Beta strandi121 – 1233Combined sources
Helixi124 – 1263Combined sources
Beta strandi129 – 1313Combined sources
Turni138 – 1425Combined sources
Helixi143 – 1475Combined sources
Beta strandi148 – 1514Combined sources
Beta strandi152 – 1543Combined sources
Turni156 – 1583Combined sources
Beta strandi160 – 1623Combined sources
Helixi163 – 1653Combined sources
Beta strandi168 – 1703Combined sources
Beta strandi173 – 1764Combined sources
Helixi177 – 1793Combined sources
Helixi181 – 1833Combined sources
Turni189 – 1913Combined sources
Beta strandi201 – 2044Combined sources
Turni205 – 2073Combined sources
Beta strandi208 – 2114Combined sources
Helixi212 – 2143Combined sources
Beta strandi217 – 2193Combined sources
Beta strandi222 – 2243Combined sources
Helixi226 – 2283Combined sources
Beta strandi241 – 2433Combined sources
Turni244 – 2463Combined sources
Beta strandi247 – 2493Combined sources
Helixi251 – 2533Combined sources
Beta strandi254 – 2585Combined sources
Beta strandi260 – 2645Combined sources
Helixi265 – 2673Combined sources
Beta strandi268 – 2703Combined sources
Beta strandi281 – 2833Combined sources
Beta strandi289 – 2924Combined sources
Turni293 – 2964Combined sources
Beta strandi306 – 3083Combined sources
Turni310 – 3123Combined sources
Helixi317 – 3193Combined sources
Helixi321 – 3244Combined sources
Beta strandi326 – 3305Combined sources
Beta strandi333 – 3353Combined sources
Beta strandi337 – 3393Combined sources
Beta strandi341 – 3433Combined sources
Beta strandi345 – 3473Combined sources
Turni348 – 3503Combined sources
Beta strandi351 – 3533Combined sources
Helixi357 – 3593Combined sources
Beta strandi363 – 3697Combined sources
Beta strandi372 – 3743Combined sources
Beta strandi376 – 3783Combined sources
Beta strandi381 – 3855Combined sources
Turni387 – 3893Combined sources
Beta strandi392 – 3943Combined sources
Beta strandi400 – 4045Combined sources
Beta strandi406 – 4138Combined sources
Beta strandi420 – 4234Combined sources
Beta strandi427 – 4359Combined sources
Turni436 – 4394Combined sources
Beta strandi440 – 4456Combined sources
Turni446 – 4494Combined sources
Beta strandi450 – 4556Combined sources
Beta strandi466 – 4694Combined sources
Beta strandi478 – 4825Combined sources
Turni483 – 4864Combined sources
Beta strandi487 – 4926Combined sources
Turni493 – 4964Combined sources
Beta strandi497 – 5026Combined sources
Beta strandi505 – 5139Combined sources
Beta strandi519 – 5257Combined sources
Turni526 – 5294Combined sources
Beta strandi530 – 5356Combined sources
Beta strandi537 – 5393Combined sources
Beta strandi541 – 5466Combined sources
Beta strandi552 – 5565Combined sources
Beta strandi563 – 5697Combined sources
Turni570 – 5734Combined sources
Beta strandi574 – 5796Combined sources
Turni580 – 5834Combined sources
Beta strandi584 – 5896Combined sources
Beta strandi596 – 6005Combined sources
Turni602 – 6054Combined sources
Beta strandi606 – 6149Combined sources
Beta strandi617 – 6226Combined sources
Turni623 – 6264Combined sources
Beta strandi627 – 6326Combined sources
Turni633 – 6353Combined sources
Beta strandi640 – 6434Combined sources
Beta strandi652 – 6565Combined sources
Helixi657 – 6593Combined sources
Beta strandi668 – 6725Combined sources
Helixi673 – 6764Combined sources
Beta strandi678 – 6836Combined sources
Beta strandi693 – 6975Combined sources
Beta strandi708 – 7136Combined sources
Beta strandi821 – 8244Combined sources
Turni826 – 8294Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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[»]
4NE9X-ray2.60D314-339[»]
ProteinModelPortaliP01130.
SMRiP01130. Positions 20-715.
ModBaseiSearch...
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Miscellaneous databases

EvolutionaryTraceiP01130.

Family & Domainsi

Domains and Repeats

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

Region

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

Sequence similaritiesi

Belongs to the LDLR family.Curated
Contains 3 EGF-like domains.PROSITE-ProRule annotation
Contains 7 LDL-receptor class A domains.PROSITE-ProRule annotation
Contains 6 LDL-receptor class B repeats.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG255913.
GeneTreeiENSGT00760000118968.
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.

« Hide

        10         20         30         40         50
MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA
60 70 80 90 100
ECQDGSDESQ ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD
110 120 130 140 150
EQGCPPKTCS QDEFRCHDGK CISRQFVCDS DRDCLDGSDE ASCPVLTCGP
160 170 180 190 200
ASFQCNSSTC IPQLWACDND PDCEDGSDEW PQRCRGLYVF QGDSSPCSAF
210 220 230 240 250
EFHCLSGECI HSSWRCDGGP DCKDKSDEEN CAVATCRPDE FQCSDGNCIH
260 270 280 290 300
GSRQCDREYD CKDMSDEVGC VNVTLCEGPN KFKCHSGECI TLDKVCNMAR
310 320 330 340 350
DCRDWSDEPI KECGTNECLD NNGGCSHVCN DLKIGYECLC PDGFQLVAQR
360 370 380 390 400
RCEDIDECQD PDTCSQLCVN LEGGYKCQCE EGFQLDPHTK ACKAVGSIAY
410 420 430 440 450
LFFTNRHEVR KMTLDRSEYT SLIPNLRNVV ALDTEVASNR IYWSDLSQRM
460 470 480 490 500
ICSTQLDRAH GVSSYDTVIS RDIQAPDGLA VDWIHSNIYW TDSVLGTVSV
510 520 530 540 550
ADTKGVKRKT LFRENGSKPR AIVVDPVHGF MYWTDWGTPA KIKKGGLNGV
560 570 580 590 600
DIYSLVTENI QWPNGITLDL LSGRLYWVDS KLHSISSIDV NGGNRKTILE
610 620 630 640 650
DEKRLAHPFS LAVFEDKVFW TDIINEAIFS ANRLTGSDVN LLAENLLSPE
660 670 680 690 700
DMVLFHNLTQ PRGVNWCERT TLSNGGCQYL CLPAPQINPH SPKFTCACPD
710 720 730 740 750
GMLLARDMRS CLTEAEAAVA TQETSTVRLK VSSTAVRTQH TTTRPVPDTS
760 770 780 790 800
RLPGATPGLT TVEIVTMSHQ ALGDVAGRGN EKKPSSVRAL SIVLPIVLLV
810 820 830 840 850
FLCLGVFLLW KNWRLKNINS INFDNPVYQK TTEDEVHICH NQDGYSYPSR
860
QMVSLEDDVA
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.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311E → D in BAG58495. (PubMed:14702039)Curated

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. 2 Publications
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. 1 Publication
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