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P01130

- LDLR_HUMAN

UniProt

P01130 - LDLR_HUMAN

Protein

Low-density lipoprotein receptor

Gene

LDLR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 190 (01 Oct 2014)
      Sequence version 1 (21 Jul 1986)
      Previous versions | rss
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    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

    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.

    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

    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.
    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 – 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...)4 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

    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

    1
    860
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP01130.

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei789 – 81022HelicalSequence AnalysisAdd
    BLAST

    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.
    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

    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.

    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 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 in FH; Japanese patients. 2 Publications
    VAR_005364
    Natural varianti342 – 3421D → E in New York-1.
    VAR_005365
    Natural varianti342 – 3421D → N in FH.
    Corresponds to variant rs139361635 [ dbSNP | Ensembl ].
    VAR_005366
    Natural varianti343 – 3431G → S in Picardie.
    VAR_005367
    Natural varianti350 – 3501R → P in FH; British patient. 1 Publication
    VAR_005368
    Natural varianti352 – 3521C → Y in Mexico-2.
    VAR_005369
    Natural varianti354 – 3541D → G in Munster-2.
    VAR_005370
    Natural varianti354 – 3541D → V in Oklahoma.
    VAR_005371
    Natural varianti356 – 3561D → Y in FH. 2 Publications
    VAR_007984
    Natural varianti357 – 3571E → K in Paris-7.
    VAR_005372
    Natural varianti358 – 3581C → Y in FH. 2 Publications
    VAR_062377
    Natural varianti364 – 3641C → R in Mexico-3.