LRP5: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

LRP5

Aliases

BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2

Entrez Gene ID

4041

Gene Name

LDL receptor related protein 5

Chromosomal Location

11q13.2

HGNC ID

HGNC:6697

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]

RefSeq DNA

NG_015835.2

RefSeq mRNA

NM_002335.4, NM_001291902.2

e!Ensembl

Gene	ENSG00000162337
Transcript	ENST00000294304, ENST00000529993, ENST00000529702
Protein	ENSP00000294304, ENSP00000436652, ENSP00000435315

Gene Ontology (GO)

Show/Hide all(47 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001702	Biological process	Gastrulation with mouth forming second	IBA	21873635
GO:0002053	Biological process	Positive regulation of mesenchymal cell proliferation	IMP	17680723
GO:0002076	Biological process	Osteoblast development	IBA	21873635
GO:0006007	Biological process	Glucose catabolic process	IMP	19673927
GO:0008217	Biological process	Regulation of blood pressure	IMP	18721193
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	9790987
GO:0009952	Biological process	Anterior/posterior pattern specification	IBA	21873635
GO:0042632	Biological process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Biological process	Cholesterol homeostasis	IMP	18721193, 20146170
GO:0045600	Biological process	Positive regulation of fat cell differentiation	IMP	17680723
GO:0045668	Biological process	Negative regulation of osteoblast differentiation	IMP	17680723
GO:0045840	Biological process	Positive regulation of mitotic nuclear division	IDA	9790987
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	15035989, 17955262
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	12857724
GO:0046849	Biological process	Bone remodeling	IBA	21873635
GO:0048539	Biological process	Bone marrow development	IBA	21873635
GO:0048539	Biological process	Bone marrow development	IMP	17680723
GO:0060042	Biological process	Retina morphogenesis in camera-type eye	IMP	15346351
GO:0060070	Biological process	Canonical Wnt signaling pathway	IBA	21873635
GO:0060070	Biological process	Canonical Wnt signaling pathway	IDA	11029007, 12121999, 12857724, 15908424, 24706814, 25920554
GO:0060070	Biological process	Canonical Wnt signaling pathway	IGI	11336703, 16805831
GO:0060070	Biological process	Canonical Wnt signaling pathway	IMP	18044981, 19673927
GO:0060349	Biological process	Bone morphogenesis	IBA	21873635
GO:0060349	Biological process	Bone morphogenesis	IMP	19673927, 20146170, 20630166
GO:0060444	Biological process	Branching involved in mammary gland duct morphogenesis	IBA	21873635
GO:0060612	Biological process	Adipose tissue development	IBA	21873635
GO:0060612	Biological process	Adipose tissue development	IMP	17680723
GO:0061178	Biological process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IBA	21873635
GO:0061304	Biological process	Retinal blood vessel morphogenesis	IBA	21873635
GO:0061304	Biological process	Retinal blood vessel morphogenesis	IMP	15024691, 15346351
GO:0071901	Biological process	Negative regulation of protein serine/threonine kinase activity	IMP	19107203
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IDA	17680723
GO:0043235	Cellular component	Receptor complex	IBA	21873635
GO:0043235	Cellular component	Receptor complex	IDA	18762581
GO:1990851	Cellular component	Wnt-Frizzled-LRP5/6 complex	TAS	20093360, 22988876
GO:1990909	Cellular component	Wnt signalosome	NAS	24115276
GO:0005515	Molecular function	Protein binding	IPI	11336703, 11433302, 15908424, 18762581, 20393562, 21471202
GO:0017147	Molecular function	Wnt-protein binding	IBA	21873635
GO:0017147	Molecular function	Wnt-protein binding	IPI	11336703
GO:0017147	Molecular function	Wnt-protein binding	TAS	22988876
GO:0019534	Molecular function	Toxin transmembrane transporter activity	IMP	18350154
GO:0042813	Molecular function	Wnt-activated receptor activity	IBA	21873635
GO:0042813	Molecular function	Wnt-activated receptor activity	IDA	24706814, 25920554
GO:0071936	Molecular function	Coreceptor activity involved in Wnt signaling pathway	IPI	11336703
GO:1904928	Molecular function	Coreceptor activity involved in canonical Wnt signaling pathway	NAS	24431302

Protein Information

Protein Name

Low-density lipoprotein receptor-related protein 5, low density lipoprotein receptor-related protein 5, low density lipoprotein receptor-related protein 7

Function

Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:15778503, PubMed:11719191, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:25920554, PubMed:24706814, PubMed:14731402). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:27228167, PubMed:16252235). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity).

Refseq Proteins

NP_002326.2, NP_001278831.1

UniProt

O75197

Pfam

Pfam Accession	Pfam ID
PF00057	Ldl_recept_a
PF00058	Ldl_recept_b

LRP5

Identification of Polycystic Ovary Syndrome (PCOS) Specific Genes in Cumulus and Mural Granulosa Cells.