• Gene id: 4041

Gene Summary

• Gene Symbol: LRP5   Gene   UCSC   Ensembl
• Aliases: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2
• Gene name: LDL receptor related protein 5
• Alternate names: low-density lipoprotein receptor-related protein 5, low density lipoprotein receptor-related protein 5, low density lipoprotein receptor-related protein 7,
• Gene location: 11q13.2 (68298865: 68449274)     Exons: 28     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 610486

Protein Summary

• Protein general information: O75197  
  • Name: Low density lipoprotein receptor related protein 5 (LRP 5) (Low density lipoprotein receptor related protein 7) (LRP 7)
  • Length: 1615  
  • Mass: 179145
  • Tissue specificity: Widely expressed, with the highest level of expression in the liver and in aorta. {ECO
• Sequence:

  MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKG
  AVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDL
  DQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLD
  GSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCE
  EDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHA
  IAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSR
  KILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTD
  KIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV
  GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVK
  EASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQ
  FRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDT
  NMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQ
  DGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHG
  LRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINV
  HRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGK
  LFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTG
  IHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCSPDQFACATGEIDCIP
  GAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVL
  IKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHSSAIGPVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHE
  YVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNP
  PPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPP
  PPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS

• Structural information:
  • Protein Domains: (295..33-)
    (/note="EGF-like-1)
    (601..64-)
    (/note="EGF-like-2)
    (902..94-)
    (/note="EGF-like-3)
    (1213..125-)
    (/note="EGF-like-4)
    (1258..129-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124"-)
  • Interpro: IPR011042  IPR000742  IPR036055  IPR023415  IPR000033   IPR002172  IPR017049  
  • Prosite: PS01209 PS50068 PS51120
  • CDD: cd00112
  • DIP: 47265
  • STRING: ENSP00000294304
• Other Databases: GeneCards:  LRP5  Malacards:  LRP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060070	canonical Wnt signaling pathway	IGI	biological process
GO:0071936	coreceptor activity involved in Wnt signaling pathway	IPI	molecular function
GO:1904928	coreceptor activity involved in canonical Wnt signaling pathway	NAS	molecular function
GO:0042813	Wnt-activated receptor activity	ISS	molecular function
GO:1990909	Wnt signalosome	NAS	cellular component
GO:0017147	Wnt-protein binding	TAS	molecular function
GO:0017147	Wnt-protein binding	IPI	molecular function
GO:0017147	Wnt-protein binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990851	Wnt-Frizzled-LRP5/6 complex	TAS	cellular component
GO:1990851	Wnt-Frizzled-LRP5/6 complex	TAS	cellular component
GO:0060612	adipose tissue development	IBA	biological process
GO:0048539	bone marrow development	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0042813	Wnt-activated receptor activity	IBA	molecular function
GO:0042632	cholesterol homeostasis	IBA	biological process
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0001702	gastrulation with mouth forming second	IBA	biological process
GO:0061304	retinal blood vessel morphogenesis	IBA	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IBA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IBA	biological process
GO:0060349	bone morphogenesis	IBA	biological process
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0046849	bone remodeling	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0015026	coreceptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0002076	osteoblast development	IBA	biological process
GO:0042813	Wnt-activated receptor activity	IDA	molecular function
GO:0042813	Wnt-activated receptor activity	IDA	molecular function
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0042813	Wnt-activated receptor activity	IEA	molecular function
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043434	response to peptide hormone	IEA	biological process
GO:0009314	response to radiation	IEA	biological process
GO:0061304	retinal blood vessel morphogenesis	IEA	biological process
GO:0061299	retina vasculature morphogenesis in camera-type eye	IEA	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0060603	mammary gland duct morphogenesis	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060033	anatomical structure regression	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0046849	bone remodeling	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035426	extracellular matrix-cell signaling	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:1902262	apoptotic process involved in blood vessel morphogenesis	IEA	biological process
GO:0110135	Norrin signaling pathway	IEA	biological process
GO:0060764	cell-cell signaling involved in mammary gland development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0042813	Wnt-activated receptor activity	IEA	molecular function
GO:0042074	cell migration involved in gastrulation	IEA	biological process
GO:0033690	positive regulation of osteoblast proliferation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IGI	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019534	toxin transmembrane transporter activity	IMP	NOT|molecular function
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0110135	Norrin signaling pathway	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0110135	Norrin signaling pathway	IDA	biological process
GO:0006007	glucose catabolic process	IMP	biological process
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0045600	positive regulation of fat cell differentiation	IMP	biological process
GO:0048539	bone marrow development	IMP	biological process
GO:0060612	adipose tissue development	IMP	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	IMP	biological process
GO:0045668	negative regulation of osteoblast differentiation	IMP	biological process
GO:0060042	retina morphogenesis in camera-type eye	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IMP	biological process
GO:0060349	bone morphogenesis	IMP	biological process
GO:0060349	bone morphogenesis	IMP	biological process
GO:0060349	bone morphogenesis	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IMP	biological process
GO:0061304	retinal blood vessel morphogenesis	IMP	biological process
GO:0061304	retinal blood vessel morphogenesis	IMP	biological process
GO:0045669	positive regulation of osteoblast differentiation	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1901998	toxin transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa04310	Wnt signaling pathway
hsa04150	mTOR signaling pathway
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05224	Breast cancer
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Osteoporosis	KEGG:H01593
Osteopetrosis	KEGG:H00436
Familial exudative vitreoretinopathy	KEGG:H00589
Worth type autosomal dominant osteosclerosis	KEGG:H00450
Osteoporosis-pseudoglioma syndrome	KEGG:H00451
Hyperostosis corticalis generalisata	KEGG:H01774
Osteoporosis	KEGG:H01593
Osteopetrosis	KEGG:H00436
Familial exudative vitreoretinopathy	KEGG:H00589
Worth type autosomal dominant osteosclerosis	KEGG:H00450
Osteoporosis-pseudoglioma syndrome	KEGG:H00451
Hyperostosis corticalis generalisata	KEGG:H01774
Polycystic liver disease	PMID:24706814
Osteoporosis-pseudoglioma syndrome	PMID:11719191
Microphthalmia	PMID:28111184
Osteoporosis	PMID:17002564
idiopathic juvenile osteoporosis	PMID:22487062
Heart valve disease	PMID:16631011
autosomal dominant polycystic kidney disease	PMID:25920554
Neovascular inflammatory vitreoretinopathy	PMID:15346351
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq