LRP5 - LDL receptor related protein 5 Gene
Also Known as HBM; LR3; OPS; EVR1; EVR4; LRP7; OPPG; BMND1; LRP-5; LRP-7; OPTA1; PCLD4; VBCH2
Species: Homo sapiens
About LRP5
This gene has 7 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 23 phenotypes. Ubiquitous expression in fat (RPKM 20.9), small intestine (RPKM 15.5) and 24 other tissues.
Summary
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
LRP5 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001291902.2 | NP_001278831.1 | low-density lipoprotein receptor-related protein 5 isoform 2 |
| NM_002335.4 | NP_002326.2 | low-density lipoprotein receptor-related protein 5 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables Wnt receptor activity |
IDA
IDA: Inferred from direct assay
|
24706814 | GOA |
| enables Wnt-protein binding |
IPI
IPI: Inferred from physical interaction
|
11336703 | GOA |
| enables coreceptor activity |
IPI
IPI: Inferred from physical interaction
|
11336703 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11336703 | GOA |
| NOT enables toxin transmembrane transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
18350154 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
17680723 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
18762581 | GOA |
LRP5 Protein Structure
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (121 - 160)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (163 - 203)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (207 - 245)
FXa_inhibition: Coagulation Factor Xa inhibitory site (299 - 336)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (385 - 425)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (428 - 468)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (471 - 511)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (515 - 546)
FXa_inhibition: Coagulation Factor Xa inhibitory site (605 - 640)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (687 - 727)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (731 - 770)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (773 - 813)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (816 - 852)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (856 - 887)
FXa_inhibition: Coagulation Factor Xa inhibitory site (906 - 941)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1124 - 1162)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (1257 - 1295)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (1296 - 1332)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (1336 - 1370)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1615 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
low-density lipoprotein receptor-related protein 5 |
|
LRP5 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
LRP5 | O75197 | SOST | Homo sapiens | Q9BQB4 | 15908424 | |
|
Intra
|
LRP5 | O75197 | CAPRIN2 | Homo sapiens | Q6IMN6 | 18762581 |
Recombinant LRP5 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P77989 | LRP-5 Protein, Human (HEK293, mFc) | O75197 (E644-Q1263) | ≥ 90%, as determined by reducing SDS-PAGE or Bis-Tris PAGE. |
| HY-P78838 | LRP-5 Protein, Human (Biotinylated, HEK293, His-Avi) | O75197 (E644-Q1263) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Osteoporosis-Pseudoglioma Syndrome |
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
|
| Osteopetrosis, Autosomal Dominant 1 |
|
|
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
|
| Exudative Vitreoretinopathy 4 |
|
|
| Bone Mineral Density Quantitative Trait Locus 1 |
|
|
| Exudative Vitreoretinopathy |
|
|
| Exudative Vitreoretinopathy 1 |
|
|
| Osteoporosis |
|
|
| Lrp5-Related Primary Osteoporosis |
|
|
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
|
| Van Buchem Disease |
|
|
| Brittle Bone Disorder |
|
|
| Polycystic Liver Disease |
|
|
| Fundus Dystrophy |
|
|
| Vitreoretinopathy |
|
|
| Van Buchem Disease Type 2 |
|
|
| Vitreoretinal Degeneration |
|
|
| Osteoporosis, Juvenile |
|
|
| Sclerosteosis |
|
|
| Hyperostosis |
|
|
| Norrie Disease |
|
|
| Osteopetrosis |
|
|
| Retinal Detachment |
|
|
| Camurati-Engelmann Disease |
|
|
| Mccune-Albright Syndrome |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Osteonecrosis |
|
|
| Craniodiaphyseal Dysplasia |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Type 1 Diabetes Mellitus 4 |
|
|
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
|
| Liver Disease |
|
|
| Diabetes Mellitus |
|
|
| Hypotrichosis Simplex |
|
|
| Craniosynostosis |
|
|
| Sclerosteosis 2 |
|
|
| Kidney Disease |
|
|
| Bone Disease |
|
|
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
|
| Hypotrichosis |
|
|
| Colorectal Cancer |
|
|
| Polycystic Kidney Disease |
|
|
| Osteopetrosis, Autosomal Dominant 2 |
|
|
| Glucocorticoid-Induced Osteoporosis |
|
|
| Bone Resorption Disease |
|
|
| Slate Pneumoconiosis |
|
|
| Bone Remodeling Disease |
|
|
| Osteogenesis Imperfecta, Type Xv |
|
|
| Digeorge Syndrome |
|
|
| Persistent Hyperplastic Primary Vitreous |
|
|
| Leukocoria |
|
|
| Osteopathia Striata With Cranial Sclerosis |
|
|
| Cenani-Lenz Syndactyly Syndrome |
|
|
| Retinal Telangiectasia |
|
|
| Dilated Cardiomyopathy 1t |
|
|
| Coats Disease |
|
|
| Microcephaly |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Tetraamelia Syndrome |
|
|
| Robinow Syndrome |
|
|
| Retinitis Pigmentosa 7 |
|
|
| Bone Development Disease |
|
|
| Osteochondrodysplasia |
|
|
| Aortic Valve Disease 1 |
|
|
| Tooth Agenesis |
|
|
| Hypertension, Essential |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | LRP5 | VGNC | VGNC:101301 |
| Rattus norvegicus | LRP5 | RGD | RGD:1309329 |
| Mus musculus | LRP5 | MGD | MGI:1278315 |
| Canis familiaris | LRP5 | VGNC | VGNC:49918 |
| Bos taurus | LRP5 | VGNC | VGNC:97281 |
| Felis catus | LRP5 | VGNC | VGNC:97482 |
| Others | LRP5 | NCBI |