P01130 (LDLR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Low-density lipoprotein receptor
Short name=LDL receptor

Gene names

Name:

LDLR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	860 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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. Ref.15 Ref.16 Ref.17 Ref.19 Ref.20 Ref.23 Ref.27
Subcellular location	Cell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I membrane protein. Membrane › clathrin-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. Ref.23 Ref.25
Domain	The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization By similarity. Ref.14
Post-translational modification	N- and O-glycosylated. Ref.18 Ref.25 Ubiquitinated by MYLIP leading to degradation. Ref.25
Involvement in disease	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. Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.60 Ref.61 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66 Ref.67 Ref.68 Ref.69 Ref.70 Ref.71 Ref.74 Ref.75 Ref.76 Ref.77 Ref.78 Ref.79 Ref.81
Sequence similarities	Belongs to the LDLR family. Contains 3 EGF-like domains. Contains 7 LDL-receptor class A domains. Contains 6 LDL-receptor class B repeats.
Sequence caution	The sequence BAD92646.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Cholesterol metabolism Endocytosis Host-virus interaction Lipid metabolism Lipid transport Steroid metabolism Sterol metabolism Transport
Cellular component	Cell membrane Coated pit Endosome Golgi apparatus LDL Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	EGF-like domain Repeat Signal Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol homeostasis Inferred from mutant phenotype Ref.78. Source: BHF-UCL cholesterol import Inferred from sequence or structural similarity. Source: BHF-UCL cholesterol metabolic process Inferred from electronic annotation. Source: UniProtKB-KW intestinal cholesterol absorption Inferred from mutant phenotype Ref.78. Source: HGNC lipoprotein catabolic process Inferred from electronic annotation. Source: Compara lipoprotein metabolic process Traceable author statement. Source: Reactome low-density lipoprotein particle clearance Inferred from mutant phenotype Ref.78. Source: BHF-UCL phospholipid transport Inferred from sequence or structural similarity. Source: BHF-UCL phototransduction, visible light Traceable author statement. Source: Reactome positive regulation of triglyceride biosynthetic process Inferred from sequence or structural similarity. Source: BHF-UCL regulation of phosphatidylcholine catabolic process Inferred from sequence or structural similarity. Source: BHF-UCL retinoid metabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome virus-host interaction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi apparatus Inferred from direct assay Ref.23. Source: UniProtKB clathrin-coated endocytic vesicle membrane Traceable author statement. Source: Reactome coated pit Inferred from direct assay PubMed 15166224. Source: BHF-UCL early endosome Inferred from direct assay Ref.23. Source: UniProtKB endosome membrane Traceable author statement. Source: Reactome external side of plasma membrane Inferred from direct assay PubMed 15166224. Source: BHF-UCL integral to plasma membrane Traceable author statement PubMed 6327078. Source: ProtInc late endosome Inferred from direct assay Ref.23. Source: UniProtKB low-density lipoprotein particle Inferred from electronic annotation. Source: UniProtKB-KW lysosome Inferred from direct assay Ref.23. Source: UniProtKB
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro low-density lipoprotein particle binding Inferred from electronic annotation. Source: Compara low-density lipoprotein receptor activity Inferred from direct assay Ref.1PubMed 8626535. Source: BHF-UCL very-low-density lipoprotein particle receptor activity Inferred from direct assay PubMed 8626535. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P01130-1)

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.

Isoform 2 (identifier: P01130-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: P01130-3)

The sequence of this isoform differs from the canonical sequence as follows:
     106-232: Missing.
     233-273: VATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNV → L

Note: No experimental confirmation available.

Isoform 4 (identifier: P01130-4)

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

Note: No experimental confirmation available.

Isoform 5 (identifier: P01130-5)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 21

21

Chain

22 – 860

839

Low-density lipoprotein receptor

PRO_0000017312

Regions

Topological domain

22 – 788

767

Extracellular Potential

Transmembrane

789 – 810

22

Helical; Potential

Topological domain

811 – 860

50

Cytoplasmic Potential

Domain

25 – 65

41

LDL-receptor class A 1

Domain

66 – 106

41

LDL-receptor class A 2

Domain

107 – 145

39

LDL-receptor class A 3

Domain

146 – 186

41

LDL-receptor class A 4

Domain

195 – 233

39

LDL-receptor class A 5

Domain

234 – 272

39

LDL-receptor class A 6

Domain

274 – 313

40

LDL-receptor class A 7

Domain

314 – 353

40

EGF-like 1

Domain

354 – 393

40

EGF-like 2; calcium-binding Potential

Repeat

397 – 438

42

LDL-receptor class B 1

Repeat

439 – 485

47

LDL-receptor class B 2

Repeat

486 – 528

43

LDL-receptor class B 3

Repeat

529 – 572

44

LDL-receptor class B 4

Repeat

573 – 615

43

LDL-receptor class B 5

Repeat

616 – 658

43

LDL-receptor class B 6

Domain

663 – 712

50

EGF-like 3

Region

721 – 768

48

Clustered O-linked oligosaccharides

Region

811 – 860

50

Required for MYLIP-triggered down-regulation of LDLR

Motif

823 – 828

6

NPXY motif

Amino acid modifications

Glycosylation

97

1

N-linked (GlcNAc...) Potential

Glycosylation

156

1

N-linked (GlcNAc...)

Glycosylation

272

1

N-linked (GlcNAc...)

Glycosylation

515

1

N-linked (GlcNAc...) Potential

Glycosylation

657

1

N-linked (GlcNAc...) Ref.18 Ref.21 Ref.24

Disulfide bond

27 ↔ 39

Ref.31 Ref.32

Disulfide bond

34 ↔ 52

Ref.31 Ref.32

Disulfide bond

46 ↔ 63

Ref.31 Ref.32

Disulfide bond

68 ↔ 82

Ref.31 Ref.32

Disulfide bond

75 ↔ 95

Ref.31 Ref.32

Disulfide bond

89 ↔ 104

Ref.31 Ref.32

Disulfide bond

109 ↔ 121

By similarity

Disulfide bond

116 ↔ 134

Ref.31 Ref.32

Disulfide bond

128 ↔ 143

Ref.31 Ref.32

Disulfide bond

148 ↔ 160

Ref.31 Ref.32

Disulfide bond

155 ↔ 173

Ref.31 Ref.32

Disulfide bond

167 ↔ 184

Ref.31 Ref.32

Disulfide bond

197 ↔ 209

Ref.31 Ref.32

Disulfide bond

204 ↔ 222

Ref.31 Ref.32

Disulfide bond

216 ↔ 231

Ref.31 Ref.32

Disulfide bond

236 ↔ 248

Ref.31 Ref.32

Disulfide bond

243 ↔ 261

Ref.31 Ref.32

Disulfide bond

255 ↔ 270

Ref.31 Ref.32

Disulfide bond

276 ↔ 289

Ref.31 Ref.32

Disulfide bond

284 ↔ 302

Ref.31 Ref.32

Disulfide bond

296 ↔ 313

Ref.31 Ref.32

Disulfide bond

318 ↔ 329

Ref.31 Ref.32

Disulfide bond

325 ↔ 338

Ref.31 Ref.32

Disulfide bond

340 ↔ 352

Ref.31 Ref.32

Disulfide bond

358 ↔ 368

Ref.31 Ref.32

Disulfide bond

364 ↔ 377

Ref.31 Ref.32

Disulfide bond

379 ↔ 392

Ref.31 Ref.32

Disulfide bond

667 ↔ 681

Ref.31 Ref.32

Disulfide bond

677 ↔ 696

Ref.31 Ref.32

Disulfide bond

698 ↔ 711

Ref.31 Ref.32

Natural variations

Alternative sequence

64 – 105

42

LSVTC…EQGCP → S in isoform 4.

VSP_043595

Alternative sequence

106 – 232

127

Missing in isoform 2 and isoform 3.

VSP_043053

Alternative sequence

233 – 273

41

VATCR…GCVNV → L in isoform 3.

VSP_043488

Alternative sequence

663 – 713

51

Missing in isoform 2.

VSP_043054

Alternative sequence

850 – 851

2

Missing in isoform 5.

VSP_045525

Natural variant

2

1

G → R. Ref.72
Corresponds to variant rs5931 [ dbSNP | Ensembl ].

VAR_011862

Natural variant

27

1

C → W in San Francisco.

VAR_005304

Natural variant

46

1

C → S in FH; Japanese patient. Ref.77

VAR_013949

Natural variant

47 – 48

2

Missing in FH; Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface.

VAR_005305

Natural variant

50

1

A → S in FH; German patient. Ref.70

VAR_007979

Natural variant

52

1

C → Y in Paris-4.

VAR_005306

Natural variant

56

1

S → P in FH. Ref.59

VAR_007980

Natural variant

78

1

R → C in FH.

VAR_005307

Natural variant

87

1

W → G in FH; French Canadian-4. Ref.39

VAR_005308

Natural variant

89

1

C → Y in FH. Ref.78

VAR_005309

Natural variant

90

1

D → G in London-4.

VAR_005310

Natural variant

90

1

D → N in FH.

VAR_005311

Natural variant

90

1

D → Y in FH; Durban-1. Ref.38

VAR_005312

Natural variant

92

1

Q → E in FH; Spanish patient.

VAR_005313

Natural variant

95

1

C → G in FH; Spanish patient.

VAR_005314

Natural variant

101

1

E → K in FH; Lancashire; 6% of American English. Ref.78

VAR_005315

Natural variant

105

1

P → S.
Corresponds to variant rs13306510 [ dbSNP | Ensembl ].

VAR_059375

Natural variant

109

1

C → R in Munster-1.

VAR_005316

Natural variant

116

1

C → R in FH; Spanish patient.

VAR_005317

Natural variant

134

1

C → F in FH. Ref.74

VAR_062371

Natural variant

134

1

C → W in FH. Ref.74

VAR_062372

Natural variant

139

1

D → H Found in a patient with hypercholesterolemia. Ref.80

VAR_065780

Natural variant

140

1

E → K in FH; Philippines/Durban-2/Japan. Ref.38 Ref.47

VAR_005318

Natural variant

155

1

C → G in Germany.

VAR_005319

Natural variant

160

1

C → Y in FH.

VAR_005320

Natural variant

168

1

D → H in FH; Sephardic/Safed; 10% of the Sephardic Jews. Ref.42

VAR_005321

Natural variant

168

1

D → N in FH.

VAR_005322

Natural variant

168

1

D → Y in FH; Norwegian patient. Ref.53

VAR_005323

Natural variant

172

1

D → H May contribute to familial hypercholesterolemia. Ref.76

VAR_013950

Natural variant

173

1

C → R in Greece-1.

VAR_005324

Natural variant

173

1

C → W in FH; French Canadian patient. Ref.61

VAR_005325

Natural variant

175

1

D → N in FH; Afrikaner-3; 5-10% of Afrikaners. Ref.36

VAR_005326

Natural variant

175

1

D → Y in FH. Ref.59

VAR_007981

Natural variant

177

1

S → L in FH; Puerto Rico. Ref.60

VAR_005327

Natural variant

184

1

C → Y in FH; Glasco. Ref.68

VAR_013951

Natural variant

197

1

C → F in Shreveport.

VAR_005328

Natural variant

197

1

C → R in FH; British patient. Ref.55

VAR_005330

Natural variant

197

1

C → Y in El Salvador-1.

VAR_005329

Natural variant

201

1

E → K Found in a patient with hypercholesterolemia. Ref.80

VAR_065781

Natural variant

218

1

Missing in FH; Piscataway/Lithuania. Ref.41 Ref.60 Ref.78

VAR_005331

Natural variant

221

1

D → G in FH; Padova. Ref.51 Ref.78

VAR_005332

Natural variant

221

1

D → N in FH; German patient. Ref.70 Ref.78

VAR_007982

Natural variant

221

1

D → Y in FH; Cologne patient. Ref.51

VAR_005333

Natural variant

222

1

C → Y in FH. Ref.74

VAR_062373

Natural variant

224

1

D → G in Italy-2.

VAR_005335

Natural variant

224

1

D → N in Portugal.

VAR_005334

Natural variant

224

1

D → V in FH; Cologne patient. Ref.51

VAR_005336

Natural variant

226

1

S → P in Miami-1.

VAR_005337

Natural variant

227

1

D → E in FH; Afrikaner-1/Maine; 65-70% of Afrikaner Americans. Ref.36

VAR_005338

Natural variant

228

1

E → CK in Chieti-3.

VAR_005339

Natural variant

228

1

E → K in FH; French Canadian-3/Mexico; 2% of French Canadians. Ref.39

VAR_005341

Natural variant

228

1

E → Q in Tulsa-2.

VAR_005340

Natural variant

231

1

C → G in FH; Norwegian patient. Ref.54

VAR_005342

Natural variant

240

1

E → K in Charlotte.

VAR_005343

Natural variant

248

1

C → F in Bretagne-1.

VAR_005344

Natural variant

248

1

C → Y in FH; British patient. Ref.55

VAR_005345

Natural variant

253

1

R → W May contribute to familial hypercholesterolemia. Ref.76

VAR_013952

Natural variant

254

1

Q → P in FH. Ref.74 Ref.79

VAR_062374

Natural variant

255

1

C → S Found in a patient with hypercholesterolemia. Ref.80

VAR_065782

Natural variant

256

1

D → G in Nevers.

VAR_005346

Natural variant

261

1

C → F in FH; rare mutation; strongly reduced receptor activity. Ref.69

VAR_013953

Natural variant

266

1

D → E in Cincinnati-1.

VAR_005347

Natural variant

270

1

C → Y in Miami-2.

VAR_005348

Natural variant

276

1

C → R in FH. Ref.74

VAR_062375

Natural variant

276

1

C → Y in FH; Syrian patient. Ref.66

VAR_005349

Natural variant

277

1

E → K in FH; patients from Sweden and La Havana. Ref.49 Ref.52

VAR_005350

Natural variant

286

1

S → R in Greece-2.

VAR_005351

Natural variant

288

1

E → K in FH; German patient. Ref.70

VAR_007983

Natural variant

301

1

D → A in FH; Greek patient. Ref.55

VAR_005352

Natural variant

302

1

C → W in FH; Iraki patient. Ref.55

VAR_005354

Natural variant

302

1

C → Y in FH; Spanish patient.

VAR_005353

Natural variant

304

1

D → E in Baltimore-1.

VAR_005356

Natural variant

304

1

D → N in Denver-2. Ref.80

VAR_005355

Natural variant

306

1

S → L in Amsterdam.
Corresponds to variant rs11547917 [ dbSNP | Ensembl ].

VAR_005357

Natural variant

313

1

C → Y in FH.

VAR_005358

Natural variant

318

1

C → F in FH; Trieste. Ref.43

VAR_005360

Natural variant

318

1

C → R in FH. Ref.74

VAR_062376

Natural variant

318

1

C → Y in Mexico-1; leads to a defect in the intracellular transport of the receptor.

VAR_005359

Natural variant

327

1

H → Y in FH.

VAR_005361

Natural variant

329

1

C → F in FH. Ref.81

VAR_067196

Natural variant

329

1

C → Y in FH; Chinese patient. Ref.63

VAR_005362

Natural variant

335

1

G → S in Paris-6.

VAR_005363

Natural variant

338

1

C → S in FH; Japanese patients. Ref.47 Ref.71

VAR_005364

Natural variant

342

1

D → E in New York-1.

VAR_005365

Natural variant

342

1

D → N in FH.

VAR_005366

Natural variant

343

1

G → S in Picardie.

VAR_005367

Natural variant

350

1

R → P in FH; British patient. Ref.55

VAR_005368

Natural variant

352

1

C → Y in Mexico-2.

VAR_005369

Natural variant

354

1

D → G in Munster-2.

VAR_005370

Natural variant

354

1

D → V in Oklahoma.

VAR_005371

Natural variant

356

1

D → Y in FH. Ref.59 Ref.79

VAR_007984

Natural variant

357

1

E → K in Paris-7.

VAR_005372

Natural variant

358

1

C → Y in FH. Ref.78 Ref.79

VAR_062377

Natural variant

364

1

C → R in Mexico-3.

VAR_005373

Natural variant

366

1

Q → R in FH. Ref.53

VAR_007985

Natural variant

368

1

C → R in FH; French Canadian patient. Ref.61

VAR_005374

Natural variant

370

1

N → T in FH. Ref.74

VAR_062378

Natural variant

379

1

C → R in Naples-1.

VAR_005375

Natural variant

379

1

C → Y in FH. Ref.67

VAR_007986

Natural variant

391

1

A → T.
Corresponds to variant rs11669576 [ dbSNP | Ensembl ].

VAR_024519

Natural variant

399

1

A → D in FH.

VAR_005376

Natural variant

401

1

L → H in Pori. Ref.46

VAR_005377

Natural variant

401

1

L → V in FH. Ref.59

VAR_007987

Natural variant

403

1

F → L in FH; Japanese patient. Ref.71

VAR_008995

Natural variant

406

1

R → Q May contribute to familial hypercholesterolemia. Ref.76

VAR_013954

Natural variant

408

1

E → K May contribute to familial hypercholesterolemia; Algeria-1. Ref.76

VAR_005378

Natural variant

414

1

L → R in FH; Chinese patient. Ref.63

VAR_005379

Natural variant

415

1

D → G in FH. Ref.74

VAR_062379

Natural variant

416

1

R → Q in FH; German patient. Ref.62

VAR_005380

Natural variant

416

1

R → W in FH. Ref.59

VAR_005381

Natural variant

423

1

I → T in FH; Swedish patient. Ref.49

VAR_005382

Natural variant

429

1

V → M in FH; Afrikaner-2; 20-30% of Afrikaners and 2% of FH Dutch. Ref.36 Ref.52 Ref.62 Ref.63
Corresponds to variant rs28942078 [ dbSNP | Ensembl ].

VAR_005383

Natural variant

431

1

A → T in FH; Algeria-2. Ref.71
Corresponds to variant rs28942079 [ dbSNP | Ensembl ].

VAR_005384

Natural variant

432

1

L → V in FH; German patient. Ref.70

VAR_007988

Natural variant

433

1

D → H in FH; Osaka-3. Ref.40

VAR_005385

Natural variant

434

1

T → K in Algeria-3.

VAR_005386

Natural variant

441

1

I → M in Rouen.

VAR_005388

Natural variant

441

1

I → N in Russia-1.

VAR_005387

Natural variant

443

1

W → C in North Platt.

VAR_005389

Natural variant

451

1

I → T in FH. Ref.75 Ref.79

VAR_062380

Natural variant

468

1

V → I. Ref.72
Corresponds to variant rs5932 [ dbSNP | Ensembl ].

VAR_011863

Natural variant

471

1

R → G Found in a patient with hypercholesterolemia. Ref.80

VAR_065783

Natural variant

478

1

G → R in New York-2.

VAR_005390

Natural variant

479

1

L → P in FH. Ref.78

VAR_062381

Natural variant

482

1

D → H in FH. Ref.78

VAR_005391

Natural variant

483

1

W → R in FH.

VAR_005392

Natural variant

485

1

H → R in Milan.

VAR_005394

Natural variant

487

1

Missing in FH; Norwegian patient. Ref.50

VAR_005393

Natural variant

523

1

V → M in Kuwait.
Corresponds to variant rs28942080 [ dbSNP | Ensembl ].

VAR_005395

Natural variant

526

1

P → S in Cincinnati-3.

VAR_005396

Natural variant

546

1

G → D in Saint Omer; retention in the ER. Ref.25
Corresponds to variant rs28942081 [ dbSNP | Ensembl ].

VAR_005397

Natural variant

549

1

G → D in Genoa.
Corresponds to variant rs28941776 [ dbSNP | Ensembl ].

VAR_005398

Natural variant

564

1

N → H in FH; French, German and Danish patients. Ref.48 Ref.57 Ref.70
Corresponds to variant rs28942086 [ dbSNP | Ensembl ].

VAR_005399

Natural variant

564

1

N → S in FH; Sicily. Ref.60

VAR_005400

Natural variant

565

1

G → V in Naples-2.
Corresponds to variant rs28942082 [ dbSNP | Ensembl ].

VAR_005401

Natural variant

568

1

L → V in FH; Japanese patient. Ref.71

VAR_008996

Natural variant

579

1

D → N in FH; Cincinnati-4; less than 2% receptor activity. Ref.49

VAR_005402

Natural variant

579

1

D → Y in FH. Ref.74

VAR_062382

Natural variant

592

1

G → E in FH; Sicily. Ref.60

VAR_005403

Natural variant

599

1

L → S in London-5.

VAR_005404

Natural variant

608

1

P → S in FH. Ref.67

VAR_007989

Natural variant

633

1

R → C in FH.

VAR_005405

Natural variant

649

1

P → L in FH.

VAR_005406

Natural variant

667

1

C → Y in FH; French Canadian-2; 5% of French Canadians. Ref.39
Corresponds to variant rs28942083 [ dbSNP | Ensembl ].

VAR_005407

Natural variant

677

1

C → R in FH; New York-3. Ref.78

VAR_005408

Natural variant

682

1

L → P in Issoire.

VAR_005409

Natural variant

685

1

P → L in FH; Gujerat/Zambia/Belgian/Dutch/Sweden/Japan. Ref.44 Ref.45 Ref.47 Ref.56 Ref.78
Corresponds to variant rs28942084 [ dbSNP | Ensembl ].

VAR_005410

Natural variant

699

1

P → L May contribute to familial hypercholesterolemia. Ref.76

VAR_013955

Natural variant

700

1

D → E in FH; Spanish patient.

VAR_005412

Natural variant

714

1

E → K in FH; Japanese patient. Ref.71

VAR_008997

Natural variant

726

1

T → I in Paris-9.
Corresponds to variant rs45508991 [ dbSNP | Ensembl ].

VAR_005413

Natural variant

792

1

I → F in Russia-2.

VAR_005414

Natural variant

797

1

V → M in FH; La Havana patient. Ref.52

VAR_005415

Natural variant

799 – 801

3

Missing in FH; Danish patient.

VAR_005416

Natural variant

814

1

R → Q Polymorphism that may contribute to FH. Ref.72 Ref.76
Corresponds to variant rs5928 [ dbSNP | Ensembl ].

VAR_011864

Natural variant

820 – 822

3

Missing in FH.

VAR_005417

Natural variant

826

1

P → S in FH. Ref.79

VAR_062383

Natural variant

827

1

V → I in New York-5.

VAR_005418

Natural variant

828

1

Y → C in FH; J.D.Bari/Syria. Ref.37
Corresponds to variant rs28942085 [ dbSNP | Ensembl ].

VAR_005419

Natural variant

844

1

G → D in Turku. Ref.46

VAR_005420

Experimental info

Mutagenesis

811

1

K → R: No change. No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839. Ref.14 Ref.25

Mutagenesis

816

1

K → R: No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839. Ref.14 Ref.25

Mutagenesis

828

1

Y → A: Abolishes interaction with ARRB2. Ref.14 Ref.17

Mutagenesis

830

1

K → R: No change. No change; when associated with R-816. No change; when associated with R-811 and R-816. Insensitive to MYLIP-triggered degradation; when associated with A-839. Insensitive to MYLIP-triggered degradation; when associated with R-816 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and A-839. Ref.14 Ref.25

Mutagenesis

839

1

C → A: No change. Insensitive to MYLIP-triggered degradation; when associated with R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and R-830. Ref.14 Ref.25

Mutagenesis

854

1

S → A: No effect on receptor internalization. Ref.14 Ref.17

Mutagenesis

854

1

S → D: Enhances interaction with ARRB2 and receptor internalization. Ref.14 Ref.17

Secondary structure

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860

Helix Strand Turn

Details...

Beta strand

29 – 33

5

Beta strand

35 – 37

3

Beta strand

39 – 41

3

Turn

42 – 46

5

Beta strand

47 – 49

3

Beta strand

51 – 55

5

Helix

56 – 58

3

Turn

60 – 62

3

Turn

63 – 67

5

Beta strand

70 – 72

3

Beta strand

75 – 77

3

Beta strand

79 – 81

3

Helix

85 – 87

3

Beta strand

88 – 90

3

Beta strand

95 – 97

3

Turn

99 – 103

5

Beta strand

113 – 115

3

Beta strand

121 – 123

3

Helix

124 – 126

3

Beta strand

129 – 131

3

Turn

138 – 142

5

Helix

143 – 147

5

Beta strand

148 – 151

4

Beta strand

152 – 154

3

Turn

156 – 158

3

Beta strand

160 – 162

3

Helix

163 – 165

3

Beta strand

168 – 170

3

Beta strand

173 – 176

4

Helix

177 – 179

3

Helix

181 – 183

3

Turn

189 – 191

3

Beta strand

201 – 204

4

Turn

205 – 207

3

Beta strand

208 – 211

4

Helix

212 – 214

3

Beta strand

217 – 219

3

Beta strand

222 – 224

3

Helix

226 – 228

3

Beta strand

241 – 243

3

Turn

244 – 246

3

Beta strand

247 – 249

3

Helix

251 – 253

3

Beta strand

254 – 258

5

Beta strand

260 – 264

5

Helix

265 – 267

3

Beta strand

268 – 270

3

Beta strand

281 – 283

3

Beta strand

289 – 292

4

Turn

293 – 296

4

Beta strand

306 – 308

3

Turn

310 – 312

3

Helix

317 – 319

3

Helix

321 – 324

4

Beta strand

326 – 330

5

Beta strand

333 – 335

3

Beta strand

337 – 339

3

Beta strand

341 – 343

3

Beta strand

345 – 347

3

Turn

348 – 350

3

Beta strand

351 – 353

3

Helix

357 – 359

3

Beta strand

363 – 369

7

Beta strand

372 – 374

3

Beta strand

376 – 378

3

Beta strand

381 – 385

5

Turn

387 – 389

3

Beta strand

392 – 394

3

Beta strand

400 – 404

5

Beta strand

406 – 413

8

Beta strand

420 – 423

4

Beta strand

427 – 435

9

Turn

436 – 439

4

Beta strand

440 – 445

6

Turn

446 – 449

4

Beta strand

450 – 455

6

Beta strand

466 – 469

4

Beta strand

478 – 482

5

Turn

483 – 486

4

Beta strand

487 – 492

6

Turn

493 – 496

4

Beta strand

497 – 502

6

Beta strand

505 – 513

9

Beta strand

519 – 525

7

Turn

526 – 529

4

Beta strand

530 – 535

6

Beta strand

537 – 539

3

Beta strand

541 – 546

6

Beta strand

552 – 556

5

Beta strand

563 – 569

7

Turn

570 – 573

4

Beta strand

574 – 579

6

Turn

580 – 583

4

Beta strand

584 – 589

6

Beta strand

596 – 600

5

Turn

602 – 605

4

Beta strand

606 – 614

9

Beta strand

617 – 622

6

Turn

623 – 626

4

Beta strand

627 – 632

6

Turn

633 – 635

3

Beta strand

640 – 643

4

Beta strand

652 – 656

5

Helix

657 – 659

3

Beta strand

668 – 672

5

Helix

673 – 676

4

Beta strand

678 – 683

6

Beta strand

693 – 697

5

Beta strand

708 – 713

6

Beta strand

821 – 824

4

Turn

826 – 829

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 21, 1986. Version 1. Checksum: A4C28E9B8BADAD5E	FASTA	860	95,376
	10 20 30 40 50 60 MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ 70 80 90 100 110 120 ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD EQGCPPKTCS QDEFRCHDGK 130 140 150 160 170 180 CISRQFVCDS DRDCLDGSDE ASCPVLTCGP ASFQCNSSTC IPQLWACDND PDCEDGSDEW 190 200 210 220 230 240 PQRCRGLYVF QGDSSPCSAF EFHCLSGECI HSSWRCDGGP DCKDKSDEEN CAVATCRPDE 250 260 270 280 290 300 FQCSDGNCIH GSRQCDREYD CKDMSDEVGC VNVTLCEGPN KFKCHSGECI TLDKVCNMAR 310 320 330 340 350 360 DCRDWSDEPI KECGTNECLD NNGGCSHVCN DLKIGYECLC PDGFQLVAQR RCEDIDECQD 370 380 390 400 410 420 PDTCSQLCVN LEGGYKCQCE EGFQLDPHTK ACKAVGSIAY LFFTNRHEVR KMTLDRSEYT 430 440 450 460 470 480 SLIPNLRNVV ALDTEVASNR IYWSDLSQRM ICSTQLDRAH GVSSYDTVIS RDIQAPDGLA 490 500 510 520 530 540 VDWIHSNIYW TDSVLGTVSV ADTKGVKRKT LFRENGSKPR AIVVDPVHGF MYWTDWGTPA 550 560 570 580 590 600 KIKKGGLNGV DIYSLVTENI QWPNGITLDL LSGRLYWVDS KLHSISSIDV NGGNRKTILE 610 620 630 640 650 660 DEKRLAHPFS LAVFEDKVFW TDIINEAIFS ANRLTGSDVN LLAENLLSPE DMVLFHNLTQ 670 680 690 700 710 720 PRGVNWCERT TLSNGGCQYL CLPAPQINPH SPKFTCACPD GMLLARDMRS CLTEAEAAVA 730 740 750 760 770 780 TQETSTVRLK VSSTAVRTQH TTTRPVPDTS RLPGATPGLT TVEIVTMSHQ ALGDVAGRGN 790 800 810 820 830 840 EKKPSSVRAL SIVLPIVLLV FLCLGVFLLW KNWRLKNINS INFDNPVYQK TTEDEVHICH 850 860 NQDGYSYPSR QMVSLEDDVA
	Isoform 2 [UniParc]. Checksum: CE2D11319D31F398	FASTA	682	75,854
	10 20 30 40 50 60 MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ 70 80 90 100 110 120 ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD EQGCPVATCR PDEFQCSDGN 130 140 150 160 170 180 CIHGSRQCDR EYDCKDMSDE VGCVNVTLCE GPNKFKCHSG ECITLDKVCN MARDCRDWSD 190 200 210 220 230 240 EPIKECGTNE CLDNNGGCSH VCNDLKIGYE CLCPDGFQLV AQRRCEDIDE CQDPDTCSQL 250 260 270 280 290 300 CVNLEGGYKC QCEEGFQLDP HTKACKAVGS IAYLFFTNRH EVRKMTLDRS EYTSLIPNLR 310 320 330 340 350 360 NVVALDTEVA SNRIYWSDLS QRMICSTQLD RAHGVSSYDT VISRDIQAPD GLAVDWIHSN 370 380 390 400 410 420 IYWTDSVLGT VSVADTKGVK RKTLFRENGS KPRAIVVDPV HGFMYWTDWG TPAKIKKGGL 430 440 450 460 470 480 NGVDIYSLVT ENIQWPNGIT LDLLSGRLYW VDSKLHSISS IDVNGGNRKT ILEDEKRLAH 490 500 510 520 530 540 PFSLAVFEDK VFWTDIINEA IFSANRLTGS DVNLLAENLL SPEDMVLFHN LTQPREAEAA 550 560 570 580 590 600 VATQETSTVR LKVSSTAVRT QHTTTRPVPD TSRLPGATPG LTTVEIVTMS HQALGDVAGR 610 620 630 640 650 660 GNEKKPSSVR ALSIVLPIVL LVFLCLGVFL LWKNWRLKNI NSINFDNPVY QKTTEDEVHI 670 680 CHNQDGYSYP SRQMVSLEDD VA
	Isoform 3 [UniParc]. Checksum: FD1CBBA60EB76089	FASTA	693	76,953
	10 20 30 40 50 60 MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ 70 80 90 100 110 120 ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD EQGCPLTLCE GPNKFKCHSG 130 140 150 160 170 180 ECITLDKVCN MARDCRDWSD EPIKECGTNE CLDNNGGCSH VCNDLKIGYE CLCPDGFQLV 190 200 210 220 230 240 AQRRCEDIDE CQDPDTCSQL CVNLEGGYKC QCEEGFQLDP HTKACKAVGS IAYLFFTNRH 250 260 270 280 290 300 EVRKMTLDRS EYTSLIPNLR NVVALDTEVA SNRIYWSDLS QRMICSTQLD RAHGVSSYDT 310 320 330 340 350 360 VISRDIQAPD GLAVDWIHSN IYWTDSVLGT VSVADTKGVK RKTLFRENGS KPRAIVVDPV 370 380 390 400 410 420 HGFMYWTDWG TPAKIKKGGL NGVDIYSLVT ENIQWPNGIT LDLLSGRLYW VDSKLHSISS 430 440 450 460 470 480 IDVNGGNRKT ILEDEKRLAH PFSLAVFEDK VFWTDIINEA IFSANRLTGS DVNLLAENLL 490 500 510 520 530 540 SPEDMVLFHN LTQPRGVNWC ERTTLSNGGC QYLCLPAPQI NPHSPKFTCA CPDGMLLARD 550 560 570 580 590 600 MRSCLTEAEA AVATQETSTV RLKVSSTAVR TQHTTTRPVP DTSRLPGATP GLTTVEIVTM 610 620 630 640 650 660 SHQALGDVAG RGNEKKPSSV RALSIVLPIV LLVFLCLGVF LLWKNWRLKN INSINFDNPV 670 680 690 YQKTTEDEVH ICHNQDGYSY PSRQMVSLED DVA
	Isoform 4 [UniParc]. Checksum: F27BBF8EBEA39BEB	FASTA	819	90,940
	10 20 30 40 50 60 MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ 70 80 90 100 110 120 ETCSPKTCSQ DEFRCHDGKC ISRQFVCDSD RDCLDGSDEA SCPVLTCGPA SFQCNSSTCI 130 140 150 160 170 180 PQLWACDNDP DCEDGSDEWP QRCRGLYVFQ GDSSPCSAFE FHCLSGECIH SSWRCDGGPD 190 200 210 220 230 240 CKDKSDEENC AVATCRPDEF QCSDGNCIHG SRQCDREYDC KDMSDEVGCV NVTLCEGPNK 250 260 270 280 290 300 FKCHSGECIT LDKVCNMARD CRDWSDEPIK ECGTNECLDN NGGCSHVCND LKIGYECLCP 310 320 330 340 350 360 DGFQLVAQRR CEDIDECQDP DTCSQLCVNL EGGYKCQCEE GFQLDPHTKA CKAVGSIAYL 370 380 390 400 410 420 FFTNRHEVRK MTLDRSEYTS LIPNLRNVVA LDTEVASNRI YWSDLSQRMI CSTQLDRAHG 430 440 450 460 470 480 VSSYDTVISR DIQAPDGLAV DWIHSNIYWT DSVLGTVSVA DTKGVKRKTL FRENGSKPRA 490 500 510 520 530 540 IVVDPVHGFM YWTDWGTPAK IKKGGLNGVD IYSLVTENIQ WPNGITLDLL SGRLYWVDSK 550 560 570 580 590 600 LHSISSIDVN GGNRKTILED EKRLAHPFSL AVFEDKVFWT DIINEAIFSA NRLTGSDVNL 610 620 630 640 650 660 LAENLLSPED MVLFHNLTQP RGVNWCERTT LSNGGCQYLC LPAPQINPHS PKFTCACPDG 670 680 690 700 710 720 MLLARDMRSC LTEAEAAVAT QETSTVRLKV SSTAVRTQHT TTRPVPDTSR LPGATPGLTT 730 740 750 760 770 780 VEIVTMSHQA LGDVAGRGNE KKPSSVRALS IVLPIVLLVF LCLGVFLLWK NWRLKNINSI 790 800 810 NFDNPVYQKT TEDEVHICHN QDGYSYPSRQ MVSLEDDVA
	Isoform 5 [UniParc]. Checksum: 8A50EA1033EB6E92	FASTA	858	95,092
	10 20 30 40 50 60 MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ 70 80 90 100 110 120 ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD EQGCPPKTCS QDEFRCHDGK 130 140 150 160 170 180 CISRQFVCDS DRDCLDGSDE ASCPVLTCGP ASFQCNSSTC IPQLWACDND PDCEDGSDEW 190 200 210 220 230 240 PQRCRGLYVF QGDSSPCSAF EFHCLSGECI HSSWRCDGGP DCKDKSDEEN CAVATCRPDE 250 260 270 280 290 300 FQCSDGNCIH GSRQCDREYD CKDMSDEVGC VNVTLCEGPN KFKCHSGECI TLDKVCNMAR 310 320 330 340 350 360 DCRDWSDEPI KECGTNECLD NNGGCSHVCN DLKIGYECLC PDGFQLVAQR RCEDIDECQD 370 380 390 400 410 420 PDTCSQLCVN LEGGYKCQCE EGFQLDPHTK ACKAVGSIAY LFFTNRHEVR KMTLDRSEYT 430 440 450 460 470 480 SLIPNLRNVV ALDTEVASNR IYWSDLSQRM ICSTQLDRAH GVSSYDTVIS RDIQAPDGLA 490 500 510 520 530 540 VDWIHSNIYW TDSVLGTVSV ADTKGVKRKT LFRENGSKPR AIVVDPVHGF MYWTDWGTPA 550 560 570 580 590 600 KIKKGGLNGV DIYSLVTENI QWPNGITLDL LSGRLYWVDS KLHSISSIDV NGGNRKTILE 610 620 630 640 650 660 DEKRLAHPFS LAVFEDKVFW TDIINEAIFS ANRLTGSDVN LLAENLLSPE DMVLFHNLTQ 670 680 690 700 710 720 PRGVNWCERT TLSNGGCQYL CLPAPQINPH SPKFTCACPD GMLLARDMRS CLTEAEAAVA 730 740 750 760 770 780 TQETSTVRLK VSSTAVRTQH TTTRPVPDTS RLPGATPGLT TVEIVTMSHQ ALGDVAGRGN 790 800 810 820 830 840 EKKPSSVRAL SIVLPIVLLV FLCLGVFLLW KNWRLKNINS INFDNPVYQK TTEDEVHICH 850 NQDGYSYPSM VSLEDDVA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA." Yamamoto T., Davis C.G., Brown M.S., Schneider W.J., Casey M.L., Goldstein J.L., Russell D.W. Cell 39:27-38(1984) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"The LDL receptor gene: a mosaic of exons shared with different proteins." Suedhof T.C., Goldstein J.L., Brown M.S., Russell D.W. Science 228:815-822(1985) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	Jia S., Lv L., Sun H., Wang Q., Wang H., Zhan L., Yang Z. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Liver.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Placenta and Thalamus.
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	Rieder M.J., da Ponte S.H., Kuldanek S.A., Rajkumar N., Smith J.D., Toth E.J., Krauss R.M., Nickerson D.A. Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[7]	"Homo sapiens protein coding cDNA." Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Brain.
[8]	NHLBI resequencing and genotyping service (RS&G) Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[9]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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[36]	"Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners." Leitersdorf E., van der Westhuyzen D.R., Coetzee G.A., Hobbs H.H. J. Clin. Invest. 84:954-961(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH ASN-175; GLU-227 AND MET-429.
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[39]	"Common low-density lipoprotein receptor mutations in the French Canadian population." Leitersdorf E., Tobin E.J., Davignon J., Hobbs H.H. J. Clin. Invest. 85:1014-1023(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH GLY-87; LYS-228 AND TYR-667.
[40]	"A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor." Miyake Y., Tajima S., Funahashi T., Yamamura T., Yamamoto A. Eur. J. Biochem. 210:1-7(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH HIS-433.
[41]	"A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews." Meiner V., Landsberger D., Berkman N., Reshef A., Segal P., Seftel H.C., van der Westhuyzen D.R., Jeenah M.S., Coetzee G.A., Leitersdorf E. Am. J. Hum. Genet. 49:443-449(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH GLY-218 DEL.
[42]	"A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews." Leitersdorf E., Reshef A., Meiner V., Dann E.J., Beigel Y., van Roggen F.G., van der Westhuyzen D.R., Coetzee G.A. Hum. Genet. 91:141-147(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH HIS-168.
[43]	"A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)." Lelli N., Garuti R., Pedrazzi P., Ghisellini M., Simone M.L., Tiozzo R., Cattin L., Valenti M., Rolleri M., Bertolini S., Stefanutti C., Calandra S. Hum. Genet. 93:538-540(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH PHE-318.
[44]	"Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors." Soutar A.K., Knight B.L., Patel D.D. Proc. Natl. Acad. Sci. U.S.A. 86:4166-4170(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH LEU-685.
[45]	"Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin." Rubinsztein D.C., Coetzee G.A., Marais A.D., Leitersdorf E., Seftel H.C., van der Westhuyzen D.R. J. Lipid Res. 33:1647-1655(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH LEU-685.
[46]	"Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene." Koivisto U.-M., Viikari J.S., Kontula K. Am. J. Hum. Genet. 57:789-797(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH PORI HIS-401 AND TURKU ASP-844.
[47]	"Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population." Maruyama T., Miyake Y., Tajima S., Harada-Shiba M., Yamamura T., Tsushima M., Kishino B., Horiguchi Y., Funahashi T., Matsuzawa Y., Yamamoto A. Arterioscler. Thromb. Vasc. Biol. 15:1713-1718(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH LYS-140; SER-338 AND LEU-685.
[48]	"Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia." Tricot-Guerber F., Saint-Jore B., Valenti K., Foulon T., Bost M., Hadjian A.J. Hum. Mutat. 6:87-88(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH FRENCH HIS-564.
[49]	"An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia." Ekstroem U., Abrahamson M., Sveger T., Lombardi P., Nilsson-Ehle P. Hum. Genet. 96:147-150(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH LYS-277; THR-423 AND ASN-579.
[50]	"Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia." Leren T.P., Solberg K., Rodningen O.K., Tonstad S., Ose L. Hum. Genet. 96:241-242(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH NORWEGIAN ASN-487 DEL.
[51]	"Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia." Geisel J., Holzem G., Oette K. Hum. Genet. 96:301-304(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH COLOGNE GLY-221; TYR-221 AND VAL-224.
[52]	"Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana." Pereira E., Ferreira R., Hermelin B., Thomas G., Bernard C., Bertrand V., Nassiff H., Mendez del Castillo D., Bereziat G., Benlian P. Hum. Genet. 96:319-322(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH LA HABANA LYS-277; MET-429 AND MET-797.
[53]	"Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia." Gundersen K.E., Solberg K., Rodningen O.K., Tonstad S., Ose L., Berg K., Leren T.P. Clin. Genet. 49:85-87(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH TYR-168 AND ARG-366.
[54]	"A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects." Sundvold H., Solberg K., Tonstad S., Rodningen O.K., Ose L., Berg K., Leren T.P. Hum. Mutat. 7:70-71(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH GLY-231.
[55]	"Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom." Webb J.C., Sun X.-M., McCarthy S.N., Neuwirth C., Thompson G.R., Knigh B., Soutar A.K. J. Lipid Res. 37:368-381(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH ARG-197; TYR-248; ALA-301; TRP-302 AND PRO-350.
[56]	"Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics." Peeters A.V., van Gaal L.F., du Plessis L., Lombardi M.P.R., Havekes L.M., Kotze M.J. Hum. Genet. 100:266-270(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH LEU-685.
[57]	"Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia." Jensen H.K., Jensen T.G., Faergeman O., Jensen L.G., Andresen B.S., Corydon M.J., Andreasen P.H., Hansen P.S., Heath F., Bolund L., Gregersen N. Hum. Mutat. 9:437-444(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH HIS-564 AND 799-LEU--PHE-801 DEL.
[58]	"Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia." Day I.N.M., Whittall R.A., O'Dell S.D., Haddad L., Bolla M.K., Gudnason V., Humphries S.E. Hum. Mutat. 10:116-127(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH.
[59]	"Molecular genetics of familial hypercholesterolaemia in Norway." Leren T.P., Tonstad S., Gundersen K.E., Bakken K.S., Rodningen O.K., Sundvold H., Ose L., Berg K. J. Intern. Med. 241:185-194(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH PRO-56; TYR-175; TYR-356; VAL-401 AND TRP-416.
[60]	"LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias." Gorski B., Kubalska J., Naruszewicz M., Lubinski J. Hum. Genet. 102:562-565(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH LEU-177; GLY-218 DEL; SER-564 AND GLU-592.
[61]	"Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians." Couture P., Vohl M.-C., Gagne C., Gaudet D., Torres A.L., Lupien P.J., Despres J.-P., Labrie F., Simard J., Moorjani S. Hum. Mutat. Suppl. 1:S226-S231(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH TRP-173 AND ARG-368.
[62]	"Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia." Thiart R., Loubser O., de Villiers J.N.P., Marx M.P., Zaire R., Raal F.J., Kotze M.J. Hum. Mutat. Suppl. 1:S232-S233(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH GLN-416 AND MET-429.
[63]	"Possible common mutations in the low density lipoprotein receptor gene in Chinese." Mak Y.T., Zhang J., Chan Y.S., Mak T.W.L., Tomlinson B., Masarei J.R.L., Pang C.P. Hum. Mutat. Suppl. 1:S310-S313(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH TYR-329; ARG-414 AND MET-429.
[64]	"Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia." Cenarro A., Jensen H.K., Casao E., Civeira F., Gonzalez-Bonillo J., Rodriguez-Rey J.C., Gregersen N., Pocovi M. Hum. Mutat. 11:413-413(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH.
[65]	"Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia." Motti C., Bertolini S., Rampa P., Trovatello G., Liberatoscioli L., Calandra S., Federici G., Cortese C. Hum. Mutat. 12:290-290(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH CHIETI-3 GLU-228 DELINS CYS-LYS.
[66]	"A novel single amino acid substitution in exon 6 of the low-density lipoprotein receptor gene in a Syrian family." Vergopoulos A., Bajari T., Jouma M., Aydin A., Boehring S., Luft F.C., Schuster H. Hum. Mutat. 12:365-365(1998) Cited for: VARIANT FH TYR-276.
[67]	"Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene." Hirayama T., Yamaki E., Hata A., Tsuji M., Hashimoto K., Yamamoto M., Emi M. J. Hum. Genet. 43:250-254(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH TYR-379 AND SER-608.
[68]	"Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland." Lee W.K., Haddad L., Macleod M.J., Dorrance A.M., Wilson D.J., Gaffney D., Dominiczak M.H., Packard C.J., Day I.N., Humphries S.E., Dominiczak A.F. J. Med. Genet. 35:573-578(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH GLASCO TYR-184.
[69]	"An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)." Ekstroem U., Abrahamson M., Floren C.-H., Tollig H., Wettrell G., Nilsson G., Sun X.-M., Soutar A.K., Nilsson-Ehle P. Clin. Genet. 55:332-339(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH PHE-261.
[70]	"Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations." Ebhardt M., Schmidt H., Doerk T., Tietge U., Haas R., Manns M.-P., Schmidtke J., Stuhrmann M. Hum. Mutat. 13:257-257(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH SER-50; ASN-221; LYS-288; VAL-432 AND HIS-564.
[71]	"Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia." Hattori H., Nagano M., Iwata F., Homma Y., Egashira T., Okada T. Hum. Mutat. 14:87-87(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH SER-338; LEU-403; THR-431; VAL-568 AND LYS-714.
[72]	"Characterization of single-nucleotide polymorphisms in coding regions of human genes." Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-2; ILE-468 AND GLN-814.
[73]	Erratum Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 23:373-373(1999)
[74]	"Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype." Bertolini S., Cantafora A., Averna M., Cortese C., Motti C., Martini S., Pes G., Postiglione A., Stefanutti C., Blotta I., Pisciotta L., Rolleri M., Langheim S., Ghisellini M., Rabbone I., Calandra S. Arterioscler. Thromb. Vasc. Biol. 20:E41-E52(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH PHE-134; TRP-134; TYR-222; PRO-254; ARG-276; ARG-318; THR-370; GLY-415 AND TYR-579.
[75]	"Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree." Miltiadous G., Elisaf M., Xenophontos S., Manoli P., Cariolou M.A. Hum. Mutat. 16:277-277(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH THR-451.
[76]	"Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia." Thiart R., Scholtz C.L., Vergotine J., Hoogendijk C.F., de Villiers J.N.P., Nissen H., Brusgaard K., Gaffney D., Hoffs M.S., Vermaak W.J.H., Kotze M.J. J. Med. Genet. 37:514-519(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH 47-ASP-GLY-48 DEL, VARIANTS HIS-172; TRP-253; GLN-406; LYS-408; LEU-699 AND GLN-814.
[77]	"A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia." Takahashi M., Ikeda U., Takahashi S., Hattori H., Iwasaki T., Ishihara M., Egashira T., Honma S., Asano Y., Shimada K.A. Clin. Genet. 59:290-292(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH SER-46.
[78]	"Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk." Simon Broome familial hyperlipidemia register group and scientific steering committee Humphries S.E., Whittall R.A., Hubbart C.S., Maplebeck S., Cooper J.A., Soutar A.K., Naoumova R., Thompson G.R., Seed M., Durrington P.N., Miller J.P., Betteridge D.J.B., Neil H.A.W. J. Med. Genet. 43:943-949(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH TYR-89; LYS-101; GLY-218 DEL; GLY-221; ASN-221; TYR-358; PRO-479; HIS-482; ARG-677 AND LEU-685.
[79]	"The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene." Abifadel M., Rabes J.-P., Jambart S., Halaby G., Gannage-Yared M.-H., Sarkis A., Beaino G., Varret M., Salem N., Corbani S., Aydenian H., Junien C., Munnich A., Boileau C. Hum. Mutat. 30:E682-E691(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FH PRO-254; TYR-356; TYR-358; THR-451 AND SER-826.
[80]	"Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia." Al-Khateeb A., Zahri M.K., Mohamed M.S., Sasongko T.H., Ibrahim S., Yusof Z., Zilfalil B.A. BMC Med. Genet. 12:40-40(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HIS-139; LYS-201; SER-255; ASN-304 AND GLY-471.
[81]	"A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland." Walus-Miarka M., Sanak M., Idzior-Walus B., Miarka P., Witek P., Malecki M.T., Czarnecka D. Mol. Biol. Rep. 39:5181-5186(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FH PHE-329.
+	Additional computationally mapped references.

Web resources

LDLR

LDLR mutation database

GeneReviews

SHMPD

The Singapore human mutation and polymorphism database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

L00352 , L00336, L00337, L00338, L00339, L00340, L00341, L00343, L00344, L00345, L00346, L00347, L00348, L00349, L00350, L00351 Genomic DNA. Translation: AAA56833.1.
L29401 Genomic DNA. No translation available.
AY114155 mRNA. Translation: AAM56036.1.
AK296312 mRNA. Translation: BAG59010.1.
AK299038 mRNA. Translation: BAG61112.1.
AK300313 mRNA. Translation: BAG62065.1.
BT007361 mRNA. Translation: AAP36025.1.
AY324609 Genomic DNA. Translation: AAP72971.1.
AB209409 mRNA. Translation: BAD92646.1. Different initiation.
FJ525879 Genomic DNA. Translation: ACN81317.1.
AC011485 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84169.1.
BC014514 mRNA. Translation: AAH14514.1.

IPI

IPI00000070.
IPI00908663.
IPI00980161.
IPI00983312.
IPI00983910.

PIR

QRHULD. A01383.

RefSeq

NP_000518.1. NM_000527.4.
NP_001182727.1. NM_001195798.1.
NP_001182728.1. NM_001195799.1.
NP_001182729.1. NM_001195800.1.
NP_001182732.1. NM_001195803.1.

UniGene

Hs.213289.
Hs.713981.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1AJJ	X-ray	1.70	A	196-232	[»]
1D2J	NMR	-	A	233-272	[»]
1F5Y	NMR	-	A	22-104	[»]
1F8Z	NMR	-	A	234-272	[»]
1HJ7	NMR	-	A	314-393	[»]
1HZ8	NMR	-	A	314-395	[»]
1I0U	NMR	-	A	314-395	[»]
1IJQ	X-ray	1.50	A/B	398-713	[»]
1LDL	NMR	-	A	22-67	[»]
1LDR	NMR	-	A	64-104	[»]
1LRX	model	-	B	396-659	[»]
1N7D	X-ray	3.70	A	22-720	[»]
1XFE	NMR	-	A	272-353	[»]
2FCW	X-ray	1.26	B	107-186	[»]
2KRI	NMR	-	B	147-186	[»]
2LGP	NMR	-	A	144-235	[»]
2W2M	X-ray	2.40	E	314-393	[»]
2W2N	X-ray	2.30	E	314-393	[»]
2W2O	X-ray	2.62	E	314-393	[»]
2W2P	X-ray	2.62	E	314-393	[»]
2W2Q	X-ray	2.33	E	314-393	[»]
3BPS	X-ray	2.41	E	314-393	[»]
3GCW	X-ray	2.70	E	314-393	[»]
3GCX	X-ray	2.70	E	314-393	[»]
3M0C	X-ray	7.01	C	4-788	[»]
3P5B	X-ray	3.30	L	316-715	[»]
3P5C	X-ray	4.20	L	276-715	[»]
3SO6	X-ray	1.37	Q	819-832	[»]

ProteinModelPortal

P01130.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-29695N.

IntAct

P01130. 2 interactions.

MINT

MINT-3003796.

STRING

9606.ENSP00000252444.

PTM databases

GlycoSuiteDB

P01130.

PhosphoSite

P01130.

Polymorphism databases

DMDM

126073.

Proteomic databases

PaxDb

P01130.

PRIDE

P01130.

Protocols and materials databases

DNASU

3949.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000455727; ENSP00000397829; ENSG00000130164.
ENST00000535915; ENSP00000440520; ENSG00000130164.
ENST00000545707; ENSP00000437639; ENSG00000130164.
ENST00000558013; ENSP00000453346; ENSG00000130164.
ENST00000558518; ENSP00000454071; ENSG00000130164.

GeneID

3949.

KEGG

hsa:3949.

UCSC

uc002mqk.4. human.
uc010xlk.2. human.
uc010xll.2. human.
uc010xln.2. human.
uc010xlo.2. human.

Organism-specific databases

CTD

3949.

GeneCards

GC19P011200.

HGNC

HGNC:6547. LDLR.

HPA

HPA009647.
HPA013159.

MIM

143890. phenotype.
606945. gene.

neXtProt

NX_P01130.

Orphanet

406. Familial hypercholesterolemia.

PharmGKB

PA227.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG255913.

HOGENOM

HOG000115656.

HOVERGEN

HBG006250.

InParanoid

P01130.

KO

K12473.

OMA

PDTCSQL.

OrthoDB

EOG40S0F3.

PhylomeDB

P01130.

Enzyme and pathway databases

Reactome

REACT_111217. Metabolism.

Gene expression databases

ArrayExpress

P01130.

Bgee

P01130.

CleanEx

HS_LDLR.

Genevestigator

P01130.

GermOnline

ENSG00000130164. Homo sapiens.

Family and domain databases

Gene3D

2.120.10.30. 1 hit.
4.10.400.10. 7 hits.

InterPro

IPR011042. 6-blade_b-propeller_TolB-like.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd.
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]

Pfam

PF07645. EGF_CA. 1 hit.
PF00057. Ldl_recept_a. 7 hits.
PF00058. Ldl_recept_b. 5 hits.
[Graphical view]

SMART

SM00181. EGF. 2 hits.
SM00179. EGF_CA. 1 hit.
SM00192. LDLa. 7 hits.
SM00135. LY. 5 hits.
[Graphical view]

SUPFAM

SSF57184. Grow_fac_recept. 1 hit.
SSF57424. LDL_rcpt_classA_cys-rich. 7 hits.

PROSITE

PS00010. ASX_HYDROXYL. 2 hits.
PS00022. EGF_1. False negative.
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]

ProtoNet

Search...

Other

BindingDB

P01130.

ChEMBL

CHEMBL3311.

ChiTaRS

LDLR. human.

DrugBank

DB00992. Methyl aminolevulinate.
DB00707. Porfimer.

EvolutionaryTrace

P01130.

GenomeRNAi

3949.

NextBio

15493.

SOURCE

Search...

Entry information

Entry name

LDLR_HUMAN

Accession

Primary (citable) accession number: P01130
Secondary accession number(s): B4DJZ8 , B4DR00, B4DTQ3, C0JYY8, H0YLU8, Q53ZD9, Q59FQ1, Q9UDH7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	July 21, 1986
Last modified:	May 29, 2013
This is version 175 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.