O75197 · LRP5_HUMAN
- ProteinLow-density lipoprotein receptor-related protein 5
- GeneLRP5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1615 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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:11719191, PubMed:15778503, 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:14731402, PubMed:24706814, PubMed:25920554).
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:16252235, PubMed:27228167).
Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity).
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:14731402, PubMed:24706814, PubMed:25920554).
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:16252235, PubMed:27228167).
Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity).
GO annotations
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameLow-density lipoprotein receptor-related protein 5
- Short namesLRP-5
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO75197
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Membrane ; Single-pass type I membrane protein
Note: Chaperoned to the plasma membrane by MESD.
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 32-1384 | Extracellular | ||||
Sequence: SPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVVGTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQDGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTGIHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCSPDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHS | ||||||
Transmembrane | 1385-1407 | Helical | ||||
Sequence: SAIGPVIGIILSLFVMGGVYFVC | ||||||
Topological domain | 1408-1615 | Cytoplasmic | ||||
Sequence: QRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNPPPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Vitreoretinopathy, exudative 1 (EVR1)
- Note
- DescriptionA disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.
- See alsoMIM:133780
Natural variants in EVR1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063948 | 348 | R>W | in OPPG and EVR1; reduces Norrin signal transduction; dbSNP:rs1320065036 | |
VAR_076548 | 381 | D>N | in EVR1; reduces Norrin signal transduction; dbSNP:rs1332274863 | |
VAR_076549 | 624 | R>W | in EVR1; reduces Norrin signal transduction; dbSNP:rs989864153 | |
VAR_076550 | 1517 | Y>C | in EVR1; decreases protein abundance; dbSNP:rs201030241 |
Vitreoretinopathy, exudative 4 (EVR4)
- Note
- DescriptionA disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
- See alsoMIM:601813
Natural variants in EVR4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063943 | 145 | L>F | in EVR4; dbSNP:rs80358305 | |
VAR_018465 | 173 | T>M | in EVR4; an individual with abnormal retinal vasculature and retinal folds; dbSNP:rs80358306 | |
VAR_071012 | 422 | A>T | in EVR4; the mutation results in significantly reduced Norrin signal transduction; dbSNP:rs774342727 | |
VAR_063956 | 441 | E>K | in EVR4; dbSNP:rs376152274 | |
VAR_063957 | 444 | R>C | in EVR4; dbSNP:rs80358308 | |
VAR_063962 | 511 | D>A | in EVR4; dbSNP:rs1245625202 | |
VAR_063964 | 522 | A>T | in EVR4; dbSNP:rs80358309 | |
VAR_063966 | 535 | T>M | in EVR4; autosomal recessive; dbSNP:rs80358310 | |
VAR_071013 | 540 | L>P | in EVR4; the mutation results in significantly reduced Norrin signal transduction | |
VAR_063967 | 550 | G>R | in EVR4; autosomal recessive; dbSNP:rs80358311 | |
VAR_021222 | 570 | R>Q | in EVR4; autosomal recessive; has significantly reduced Wnt or Norrin signal transduction; dbSNP:rs80358312 | |
VAR_063968 | 610 | G>R | in EVR4 and OPPG; uncertain significance; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 60% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs80358313 | |
VAR_063969 | 617 | F>C | in EVR4; autosomal recessive; dbSNP:rs80358314 | |
VAR_021223 | 752 | R>G | in EVR4; autosomal recessive; dbSNP:rs121908674 | |
VAR_063972 | 798 | T>A | in EVR4; dbSNP:rs80358316 | |
VAR_063973 | 805 | R>W | in EVR4; dbSNP:rs765952535 | |
VAR_071015 | 852 | T>M | in EVR4; uncertain significance; the mutation results in significantly reduced Norrin signal transduction; dbSNP:rs1398692057 | |
VAR_063977 | 1121 | N>D | in EVR4; uncertain significance; dbSNP:rs80358317 | |
VAR_018466 | 1168 | Y>H | in EVR4; an individual with total retinal detachment and retinoschisis; is unable to transduce Wnt or Norrin signal transduction; dbSNP:rs80358318 | |
VAR_063978 | 1253 | C>F | in EVR4; dbSNP:rs768615287 | |
VAR_018467 | 1361 | C>G | in EVR4; autosomal dominant; has mildly reduced Wnt or Norrin signal transduction; dbSNP:rs80358320 | |
VAR_021224 | 1367 | E>K | in EVR4; autosomal recessive; dbSNP:rs28939709 |
Osteoporosis (OSTEOP)
- Note
- DescriptionA systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.
- See alsoMIM:166710
Natural variants in OSTEOP
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063941 | 29 | A>T | in OSTEOP; uncertain significance | |
VAR_063950 | 356 | S>L | in OSTEOP and OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs1158745675 | |
VAR_063958 | 455 | S>L | in OSTEOP; uncertain significance; shows an inhibitory effect on Wnt signal transduction; dbSNP:rs930355318 | |
VAR_063974 | 1036 | R>Q | in OSTEOP; uncertain significance; found in a patient with polycystic kidney disease; uncertain significance; dbSNP:rs61889560 | |
VAR_063980 | 1537 | A>T | in OSTEOP; uncertain significance; does not result in a significant alteration of Wnt signal transduction; dbSNP:rs144376510 |
Osteoporosis-pseudoglioma syndrome (OPPG)
- Note
- DescriptionA disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, intellectual disability and hypotonia.
- See alsoMIM:259770
Natural variants in OPPG
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_058582 | 15-20 | missing | in OPPG; uncertain significance; impairs protein trafficking to the endoplasmic reticulum and cell membrane | |
VAR_085732 | 79 | W>R | in OPPG; uncertain significance; dbSNP:rs1197978360 | |
VAR_085733 | 142 | R>Q | in OPPG; uncertain significance; dbSNP:rs368198391 | |
VAR_063945 | 203 | D>N | in OPPG; dbSNP:rs760548029 | |
VAR_063946 | 244 | T>M | in OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs397514665 | |
VAR_063947 | 307 | S>F | in OPPG; dbSNP:rs1219101402 | |
VAR_063948 | 348 | R>W | in OPPG and EVR1; reduces Norrin signal transduction; dbSNP:rs1320065036 | |
VAR_063949 | 353 | R>Q | in OPPG; dbSNP:rs2153153067 | |
VAR_063950 | 356 | S>L | in OSTEOP and OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs1158745675 | |
VAR_063951 | 390 | T>K | in OPPG; is unable to traffic normally; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs2098643093 | |
VAR_063952 | 400 | A>E | in OPPG; dbSNP:rs201320326 | |
VAR_063953 | 404 | G>R | in OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs750791263 | |
VAR_063954 | 409 | T>A | in OPPG; dbSNP:rs1273567061 | |
VAR_063955 | 434 | D>N | in OPPG; uncertain significance; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs757888034 | |
VAR_063959 | 460 | E>K | in OPPG; dbSNP:rs866606166 | |
VAR_063960 | 478 | W>R | in OPPG; dbSNP:rs1318906451 | |
VAR_021814 | 494 | R>Q | in OPPG; dbSNP:rs121908664 | |
VAR_063961 | 504 | W>C | in OPPG; dbSNP:rs545508982 | |
VAR_063963 | 520 | G>V | in OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal | |
VAR_063965 | 531 | N>I | in OPPG | |
VAR_085734 | 541 | L>P | in OPPG; uncertain significance | |
VAR_021815 | 570 | R>W | in OPPG; dbSNP:rs121908665 | |
VAR_063968 | 610 | G>R | in EVR4 and OPPG; uncertain significance; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 60% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs80358313 | |
VAR_063970 | 683 | D>N | in OPPG; dbSNP:rs1470530779 | |
VAR_063971 | 733 | Y>H | in OPPG; dbSNP:rs746701187 | |
VAR_063975 | 1099 | D>Y | in OPPG | |
VAR_063976 | 1113 | R>C | in OPPG; dbSNP:rs377258285 | |
VAR_063979 | 1401 | G>D | in OPPG; uncertain significance; dbSNP:rs2098676312 |
High bone mass trait (HBM)
- Note
- DescriptionRare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings.
- See alsoMIM:601884
Natural variants in HBM
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063944 | 154 | R>M | in HBM | |
VAR_021809 | 171 | G>V | in HBM; also in HBM individuals with enlarged mandible and torus palatinus; abolishes interaction with MESD; impairs transport to cell surface; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1; dbSNP:rs121908668 | |
VAR_063412 | 282 | M>V | in HBM; uncertain significance; lowered LRP5-mediated Wnt signaling; no effect on DKK1 binding |
Endosteal hyperostosis, Worth type (WENHY)
- Note
- DescriptionAn autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity.
- See alsoMIM:144750
Natural variants in WENHY
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_021810 | 214 | A>T | in WENHY; dbSNP:rs121908671 | |
VAR_021811 | 214 | A>V | in WENHY; dbSNP:rs121908672 | |
VAR_021812 | 242 | A>T | in OPTA1, VBCH2 and WENHY; dbSNP:rs121908670 |
Osteopetrosis, autosomal dominant 1 (OPTA1)
- Note
- DescriptionA rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.
- See alsoMIM:607634
Natural variants in OPTA1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_021807 | 111 | D>Y | in OPTA1; dbSNP:rs2153129547 | |
VAR_021808 | 171 | G>R | in OPTA1; dbSNP:rs121908669 | |
VAR_021812 | 242 | A>T | in OPTA1, VBCH2 and WENHY; dbSNP:rs121908670 | |
VAR_021813 | 253 | T>I | in OPTA1; dbSNP:rs121908673 |
Van Buchem disease 2 (VBCH2)
- Note
- DescriptionVBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels.
- See alsoMIM:607636
Natural variants in VBCH2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_021812 | 242 | A>T | in OPTA1, VBCH2 and WENHY; dbSNP:rs121908670 |
Polycystic liver disease 4 with or without kidney cysts (PCLD4)
- Note
- DescriptionA form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD4 patients may also develop kidney cysts that usually do not result in clinically significant renal disease.
- See alsoMIM:617875
Natural variants in PCLD4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080857 | 454 | V>M | in PCLD4; uncertain significance; dbSNP:rs373910016 | |
VAR_080935 | 638 | K>E | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs758976409 | |
VAR_080936 | 684 | V>A | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs1339222045 | |
VAR_080937 | 925 | R>C | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs369471051 | |
VAR_080861 | 1188 | R>W | in PCLD4; the mutation results in significantly reduced WNT3A-induced signaling pathway; dbSNP:rs141178995 | |
VAR_080862 | 1529 | R>S | in PCLD4; uncertain significance | |
VAR_080938 | 1541 | T>M | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs150862227 | |
VAR_080863 | 1551 | D>N | in PCLD4; uncertain significance; the mutation results in significantly reduced WNT3A-induced signaling pathway; dbSNP:rs724159827 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_058582 | 15-20 | in OPPG; uncertain significance; impairs protein trafficking to the endoplasmic reticulum and cell membrane | |||
Sequence: Missing | ||||||
Natural variant | VAR_021804 | 18-20 | ||||
Sequence: Missing | ||||||
Natural variant | VAR_021805 | 20 | ||||
Sequence: L → LL | ||||||
Natural variant | VAR_063941 | 29 | in OSTEOP; uncertain significance | |||
Sequence: A → T | ||||||
Natural variant | VAR_085732 | 79 | in OPPG; uncertain significance; dbSNP:rs1197978360 | |||
Sequence: W → R | ||||||
Natural variant | VAR_021806 | 89 | in dbSNP:rs41494349 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_063942 | 97 | in dbSNP:rs143433231 | |||
Sequence: A → V | ||||||
Natural variant | VAR_021807 | 111 | in OPTA1; dbSNP:rs2153129547 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_085733 | 142 | in OPPG; uncertain significance; dbSNP:rs368198391 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_063943 | 145 | in EVR4; dbSNP:rs80358305 | |||
Sequence: L → F | ||||||
Natural variant | VAR_063944 | 154 | in HBM | |||
Sequence: R → M | ||||||
Natural variant | VAR_021808 | 171 | in OPTA1; dbSNP:rs121908669 | |||
Sequence: G → R | ||||||
Natural variant | VAR_021809 | 171 | in HBM; also in HBM individuals with enlarged mandible and torus palatinus; abolishes interaction with MESD; impairs transport to cell surface; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1; dbSNP:rs121908668 | |||
Sequence: G → V | ||||||
Natural variant | VAR_018465 | 173 | in EVR4; an individual with abnormal retinal vasculature and retinal folds; dbSNP:rs80358306 | |||
Sequence: T → M | ||||||
Natural variant | VAR_063945 | 203 | in OPPG; dbSNP:rs760548029 | |||
Sequence: D → N | ||||||
Natural variant | VAR_021810 | 214 | in WENHY; dbSNP:rs121908671 | |||
Sequence: A → T | ||||||
Natural variant | VAR_021811 | 214 | in WENHY; dbSNP:rs121908672 | |||
Sequence: A → V | ||||||
Natural variant | VAR_021812 | 242 | in OPTA1, VBCH2 and WENHY; dbSNP:rs121908670 | |||
Sequence: A → T | ||||||
Natural variant | VAR_063946 | 244 | in OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs397514665 | |||
Sequence: T → M | ||||||
Natural variant | VAR_021813 | 253 | in OPTA1; dbSNP:rs121908673 | |||
Sequence: T → I | ||||||
Natural variant | VAR_063412 | 282 | in HBM; uncertain significance; lowered LRP5-mediated Wnt signaling; no effect on DKK1 binding | |||
Sequence: M → V | ||||||
Natural variant | VAR_063947 | 307 | in OPPG; dbSNP:rs1219101402 | |||
Sequence: S → F | ||||||
Natural variant | VAR_063948 | 348 | in OPPG and EVR1; reduces Norrin signal transduction; dbSNP:rs1320065036 | |||
Sequence: R → W | ||||||
Natural variant | VAR_063949 | 353 | in OPPG; dbSNP:rs2153153067 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_063950 | 356 | in OSTEOP and OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs1158745675 | |||
Sequence: S → L | ||||||
Natural variant | VAR_076548 | 381 | in EVR1; reduces Norrin signal transduction; dbSNP:rs1332274863 | |||
Sequence: D → N | ||||||
Natural variant | VAR_063951 | 390 | in OPPG; is unable to traffic normally; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs2098643093 | |||
Sequence: T → K | ||||||
Natural variant | VAR_063952 | 400 | in OPPG; dbSNP:rs201320326 | |||
Sequence: A → E | ||||||
Natural variant | VAR_063953 | 404 | in OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs750791263 | |||
Sequence: G → R | ||||||
Natural variant | VAR_063954 | 409 | in OPPG; dbSNP:rs1273567061 | |||
Sequence: T → A | ||||||
Natural variant | VAR_071012 | 422 | in EVR4; the mutation results in significantly reduced Norrin signal transduction; dbSNP:rs774342727 | |||
Sequence: A → T | ||||||
Natural variant | VAR_063955 | 434 | in OPPG; uncertain significance; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs757888034 | |||
Sequence: D → N | ||||||
Natural variant | VAR_063956 | 441 | in EVR4; dbSNP:rs376152274 | |||
Sequence: E → K | ||||||
Natural variant | VAR_063957 | 444 | in EVR4; dbSNP:rs80358308 | |||
Sequence: R → C | ||||||
Natural variant | VAR_080857 | 454 | in PCLD4; uncertain significance; dbSNP:rs373910016 | |||
Sequence: V → M | ||||||
Natural variant | VAR_063958 | 455 | in OSTEOP; uncertain significance; shows an inhibitory effect on Wnt signal transduction; dbSNP:rs930355318 | |||
Sequence: S → L | ||||||
Natural variant | VAR_063959 | 460 | in OPPG; dbSNP:rs866606166 | |||
Sequence: E → K | ||||||
Natural variant | VAR_063960 | 478 | in OPPG; dbSNP:rs1318906451 | |||
Sequence: W → R | ||||||
Natural variant | VAR_021814 | 494 | in OPPG; dbSNP:rs121908664 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_063961 | 504 | in OPPG; dbSNP:rs545508982 | |||
Sequence: W → C | ||||||
Natural variant | VAR_063962 | 511 | in EVR4; dbSNP:rs1245625202 | |||
Sequence: D → A | ||||||
Natural variant | VAR_063963 | 520 | in OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal | |||
Sequence: G → V | ||||||
Natural variant | VAR_063964 | 522 | in EVR4; dbSNP:rs80358309 | |||
Sequence: A → T | ||||||
Natural variant | VAR_063965 | 531 | in OPPG | |||
Sequence: N → I | ||||||
Natural variant | VAR_063966 | 535 | in EVR4; autosomal recessive; dbSNP:rs80358310 | |||
Sequence: T → M | ||||||
Natural variant | VAR_071013 | 540 | in EVR4; the mutation results in significantly reduced Norrin signal transduction | |||
Sequence: L → P | ||||||
Natural variant | VAR_085734 | 541 | in OPPG; uncertain significance | |||
Sequence: L → P | ||||||
Natural variant | VAR_063967 | 550 | in EVR4; autosomal recessive; dbSNP:rs80358311 | |||
Sequence: G → R | ||||||
Natural variant | VAR_080858 | 560 | found in a family affected by polycystic kidney and liver disease; uncertain significance; the patients carried additional PKD1 variants; the mutation results in significantly reduced WNT3A-induced signaling pathway; dbSNP:rs377144001 | |||
Sequence: W → C | ||||||
Natural variant | VAR_021222 | 570 | in EVR4; autosomal recessive; has significantly reduced Wnt or Norrin signal transduction; dbSNP:rs80358312 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_021815 | 570 | in OPPG; dbSNP:rs121908665 | |||
Sequence: R → W | ||||||
Natural variant | VAR_063968 | 610 | in EVR4 and OPPG; uncertain significance; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 60% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal; dbSNP:rs80358313 | |||
Sequence: G → R | ||||||
Natural variant | VAR_063969 | 617 | in EVR4; autosomal recessive; dbSNP:rs80358314 | |||
Sequence: F → C | ||||||
Natural variant | VAR_076549 | 624 | in EVR1; reduces Norrin signal transduction; dbSNP:rs989864153 | |||
Sequence: R → W | ||||||
Natural variant | VAR_080935 | 638 | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs758976409 | |||
Sequence: K → E | ||||||
Natural variant | VAR_021816 | 667 | in dbSNP:rs4988321 | |||
Sequence: V → M | ||||||
Natural variant | VAR_063970 | 683 | in OPPG; dbSNP:rs1470530779 | |||
Sequence: D → N | ||||||
Natural variant | VAR_080936 | 684 | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs1339222045 | |||
Sequence: V → A | ||||||
Natural variant | VAR_063971 | 733 | in OPPG; dbSNP:rs746701187 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_021223 | 752 | in EVR4; autosomal recessive; dbSNP:rs121908674 | |||
Sequence: R → G | ||||||
Natural variant | VAR_063972 | 798 | in EVR4; dbSNP:rs80358316 | |||
Sequence: T → A | ||||||
Natural variant | VAR_063973 | 805 | in EVR4; dbSNP:rs765952535 | |||
Sequence: R → W | ||||||
Natural variant | VAR_071014 | 816 | likely benign; no effect on Norrin signal transduction | |||
Sequence: Q → P | ||||||
Natural variant | VAR_071015 | 852 | in EVR4; uncertain significance; the mutation results in significantly reduced Norrin signal transduction; dbSNP:rs1398692057 | |||
Sequence: T → M | ||||||
Natural variant | VAR_080937 | 925 | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs369471051 | |||
Sequence: R → C | ||||||
Natural variant | VAR_063974 | 1036 | in OSTEOP; uncertain significance; found in a patient with polycystic kidney disease; uncertain significance; dbSNP:rs61889560 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_063975 | 1099 | in OPPG | |||
Sequence: D → Y | ||||||
Natural variant | VAR_063976 | 1113 | in OPPG; dbSNP:rs377258285 | |||
Sequence: R → C | ||||||
Natural variant | VAR_063977 | 1121 | in EVR4; uncertain significance; dbSNP:rs80358317 | |||
Sequence: N → D | ||||||
Natural variant | VAR_080859 | 1135 | in dbSNP:rs143396225 | |||
Sequence: R → C | ||||||
Natural variant | VAR_080860 | 1156 | found in a patient affected by polycystic kidney disease; uncertain significance; the patient also carried a PKD1 variant; results in significantly reduced WNT3A-induced signaling pathway; dbSNP:rs724159825 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_018466 | 1168 | in EVR4; an individual with total retinal detachment and retinoschisis; is unable to transduce Wnt or Norrin signal transduction; dbSNP:rs80358318 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_080861 | 1188 | in PCLD4; the mutation results in significantly reduced WNT3A-induced signaling pathway; dbSNP:rs141178995 | |||
Sequence: R → W | ||||||
Natural variant | VAR_035208 | 1204 | in dbSNP:rs11607268 | |||
Sequence: V → L | ||||||
Natural variant | VAR_063978 | 1253 | in EVR4; dbSNP:rs768615287 | |||
Sequence: C → F | ||||||
Natural variant | VAR_021817 | 1330 | in dbSNP:rs3736228 | |||
Sequence: A → V | ||||||
Natural variant | VAR_018467 | 1361 | in EVR4; autosomal dominant; has mildly reduced Wnt or Norrin signal transduction; dbSNP:rs80358320 | |||
Sequence: C → G | ||||||
Natural variant | VAR_021224 | 1367 | in EVR4; autosomal recessive; dbSNP:rs28939709 | |||
Sequence: E → K | ||||||
Natural variant | VAR_063979 | 1401 | in OPPG; uncertain significance; dbSNP:rs2098676312 | |||
Sequence: G → D | ||||||
Natural variant | VAR_076550 | 1517 | in EVR1; decreases protein abundance; dbSNP:rs201030241 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_021225 | 1525 | in dbSNP:rs1127291 | |||
Sequence: A → V | ||||||
Natural variant | VAR_080862 | 1529 | in PCLD4; uncertain significance | |||
Sequence: R → S | ||||||
Natural variant | VAR_063980 | 1537 | in OSTEOP; uncertain significance; does not result in a significant alteration of Wnt signal transduction; dbSNP:rs144376510 | |||
Sequence: A → T | ||||||
Natural variant | VAR_063981 | 1540 | in dbSNP:rs141407040 | |||
Sequence: T → M | ||||||
Natural variant | VAR_080938 | 1541 | in PCLD4; uncertain significance; the patient carried additional PKHD1 variant; dbSNP:rs150862227 | |||
Sequence: T → M | ||||||
Natural variant | VAR_080863 | 1551 | in PCLD4; uncertain significance; the mutation results in significantly reduced WNT3A-induced signaling pathway; dbSNP:rs724159827 | |||
Sequence: D → N |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,990 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, disulfide bond, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Signal | 1-31 | UniProt | |||||
Sequence: MEAAPPGPPWPLLLLLLLLLALCGCPAPAAA | |||||||
Chain | PRO_0000017328 | 32-1615 | UniProt | Low-density lipoprotein receptor-related protein 5 | |||
Sequence: SPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVVGTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQDGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTGIHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCSPDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHSSAIGPVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNPPPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS | |||||||
Glycosylation | 93 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 138 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 299↔310 | UniProt | |||||
Sequence: CEEDNGGCSHLC | |||||||
Disulfide bond | 306↔321 | UniProt | |||||
Sequence: CSHLCLLSPSEPFYTC | |||||||
Disulfide bond | 323↔336 | UniProt | |||||
Sequence: CPTGVQLQDNGRTC | |||||||
Glycosylation | 446 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 499 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 605↔616 | UniProt | |||||
Sequence: CADRNGGCSHLC | |||||||
Disulfide bond | 612↔625 | UniProt | |||||
Sequence: CSHLCFFTPHATRC | |||||||
Disulfide bond | 627↔640 | UniProt | |||||
Sequence: CPIGLELLSDMKTC | |||||||
Glycosylation | 705 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 878 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 906↔917 | UniProt | |||||
Sequence: CMHNNGQCGQLC | |||||||
Disulfide bond | 913↔926 | UniProt | |||||
Sequence: CGQLCLAIPGGHRC | |||||||
Disulfide bond | 928↔941 | UniProt | |||||
Sequence: CASHYTLDPSSRNC | |||||||
Disulfide bond | 1217↔1228 | UniProt | |||||
Sequence: CARDNGGCSHIC | |||||||
Disulfide bond | 1224↔1238 | UniProt | |||||
Sequence: CSHICIAKGDGTPRC | |||||||
Disulfide bond | 1240↔1253 | UniProt | |||||
Sequence: CPVHLVLLQNLLTC | |||||||
Disulfide bond | 1259↔1273 | UniProt | |||||
Sequence: CSPDQFACATGEIDC | |||||||
Disulfide bond | 1266↔1286 | UniProt | |||||
Sequence: CATGEIDCIPGAWRCDGFPEC | |||||||
Disulfide bond | 1280↔1295 | UniProt | |||||
Sequence: CDGFPECDDQSDEEGC | |||||||
Disulfide bond | 1298↔1310 | UniProt | |||||
Sequence: CSAAQFPCARGQC | |||||||
Disulfide bond | 1305↔1323 | UniProt | |||||
Sequence: CARGQCVDLRLRCDGEADC | |||||||
Disulfide bond | 1317↔1332 | UniProt | |||||
Sequence: CDGEADCQDRSDEADC | |||||||
Disulfide bond | 1336↔1348 | UniProt | |||||
Sequence: CLPNQFRCASGQC | |||||||
Disulfide bond | 1343↔1361 | UniProt | |||||
Sequence: CASGQCVLIKQQCDSFPDC | |||||||
Disulfide bond | 1355↔1370 | UniProt | |||||
Sequence: CDSFPDCIDGSDELMC | |||||||
Modified residue (large scale data) | 1609 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1612 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 1614 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Phosphorylation of cytoplasmic PPPSP motifs regulates the signal transduction of the Wnt signaling pathway through acting as a docking site for AXIN1.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed, with the highest level of expression in the liver and in aorta.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling (By similarity).
Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with FZD8; the interaction is formed on WNT-binding and signaling (PubMed:11448771).
Interacts (via the phosphorylated PPPSP motif domains) with AXIN1; the interaction prevents inhibition of beta-catenin phosphorylation and signaling and is enhanced in the presence of GSK3B and WNT1 or WNT3A (PubMed:11336703, PubMed:14731402).
Interacts (via beta-propeller regions 3 and 4) with DKK1; the interaction, enhanced by MESD and/or KREMEN, inhibits beta-catenin signaling by preventing GSK3-mediated phosphorylation of the PPPSP motifs and subsequent, AXIN1 binding (PubMed:11448771, PubMed:15778503, PubMed:19746449).
Interacts with MESD; the interaction prevents the formation of LRP5 aggregates, targets LRP5 to the plasma membrane and, when complexed with KREMEN2, increases DKK1 binding (PubMed:15143163, PubMed:17488095, PubMed:19746449).
Interacts with CSNK1E (PubMed:16513652).
Interacts with SOST; the interaction antagonizes canonical Wnt signaling (PubMed:15778503, PubMed:15908424).
Interacts with APCDD1 (PubMed:20393562).
Interacts with CAPRIN2 (PubMed:18762581).
Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with FZD8; the interaction is formed on WNT-binding and signaling (PubMed:11448771).
Interacts (via the phosphorylated PPPSP motif domains) with AXIN1; the interaction prevents inhibition of beta-catenin phosphorylation and signaling and is enhanced in the presence of GSK3B and WNT1 or WNT3A (PubMed:11336703, PubMed:14731402).
Interacts (via beta-propeller regions 3 and 4) with DKK1; the interaction, enhanced by MESD and/or KREMEN, inhibits beta-catenin signaling by preventing GSK3-mediated phosphorylation of the PPPSP motifs and subsequent, AXIN1 binding (PubMed:11448771, PubMed:15778503, PubMed:19746449).
Interacts with MESD; the interaction prevents the formation of LRP5 aggregates, targets LRP5 to the plasma membrane and, when complexed with KREMEN2, increases DKK1 binding (PubMed:15143163, PubMed:17488095, PubMed:19746449).
Interacts with CSNK1E (PubMed:16513652).
Interacts with SOST; the interaction antagonizes canonical Wnt signaling (PubMed:15778503, PubMed:15908424).
Interacts with APCDD1 (PubMed:20393562).
Interacts with CAPRIN2 (PubMed:18762581).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O75197 | APCDD1 Q8J025 | 3 | EBI-2466421, EBI-2683489 | |
BINARY | O75197 | CAPRIN2 Q6IMN6 | 3 | EBI-2466421, EBI-6918449 | |
BINARY | O75197 | SOST Q9BQB4 | 5 | EBI-2466421, EBI-5746563 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, repeat, domain, compositional bias, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 32-288 | Beta-propeller 1 | ||||
Sequence: SPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLS | ||||||
Repeat | 75-119 | LDL-receptor class B 1 | ||||
Sequence: GAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVG | ||||||
Repeat | 78-81 | YWTD 1 | ||||
Sequence: YWTD | ||||||
Repeat | 120-162 | LDL-receptor class B 2 | ||||
Sequence: KKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAH | ||||||
Repeat | 123-126 | YWTD 2 | ||||
Sequence: YWTD | ||||||
Repeat | 163-206 | LDL-receptor class B 3 | ||||
Sequence: GYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEE | ||||||
Repeat | 166-169 | YWTD 3 | ||||
Sequence: YWTD | ||||||
Repeat | 207-247 | LDL-receptor class B 4 | ||||
Sequence: QKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSG | ||||||
Repeat | 248-290 | LDL-receptor class B 5 | ||||
Sequence: DTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQE | ||||||
Repeat | 251-254 | YWTD 4 | ||||
Sequence: YWTD | ||||||
Domain | 295-337 | EGF-like 1 | ||||
Sequence: FHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCK | ||||||
Region | 341-602 | Beta-propeller 2 | ||||
Sequence: EEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVVGT | ||||||
Repeat | 385-427 | LDL-receptor class B 6 | ||||
Sequence: GYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVA | ||||||
Repeat | 388-391 | YWTD 5 | ||||
Sequence: YWTD | ||||||
Repeat | 428-470 | LDL-receptor class B 7 | ||||
Sequence: RNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVM | ||||||
Repeat | 431-434 | YWTD 6 | ||||
Sequence: YWTD | ||||||
Repeat | 471-514 | LDL-receptor class B 8 | ||||
Sequence: GLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQE | ||||||
Repeat | 474-477 | YWTD 7 | ||||
Sequence: YWTD | ||||||
Repeat | 515-557 | LDL-receptor class B 9 | ||||
Sequence: GKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDF | ||||||
Repeat | 558-600 | LDL-receptor class B 10 | ||||
Sequence: IYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV | ||||||
Repeat | 559-562 | YWTD 8 | ||||
Sequence: YWTD | ||||||
Domain | 601-641 | EGF-like 2 | ||||
Sequence: GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCI | ||||||
Region | 644-903 | Beta-propeller 3 | ||||
Sequence: EAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQDGL | ||||||
Repeat | 687-729 | LDL-receptor class B 11 | ||||
Sequence: NHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYPEGMAVDWMG | ||||||
Repeat | 690-693 | YWTD 9 | ||||
Sequence: YWTD | ||||||
Repeat | 730-772 | LDL-receptor class B 12 | ||||
Sequence: KNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTK | ||||||
Repeat | 773-815 | LDL-receptor class B 13 | ||||
Sequence: GYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYAD | ||||||
Repeat | 816-855 | LDL-receptor class B 14 | ||||
Sequence: QRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYS | ||||||
Repeat | 819-822 | YWTD 10 | ||||
Sequence: YWTD | ||||||
Repeat | 856-898 | LDL-receptor class B 15 | ||||
Sequence: DYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSS | ||||||
Repeat | 859-862 | YWTD 11 | ||||
Sequence: YWTD | ||||||
Domain | 902-942 | EGF-like 3 | ||||
Sequence: GLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCS | ||||||
Region | 945-1212 | Beta-propeller 4 | ||||
Sequence: TTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTGIHAVEEVSLEEF | ||||||
Repeat | 989-1035 | LDL-receptor class B 16 | ||||
Sequence: KFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYS | ||||||
Repeat | 1036-1078 | LDL-receptor class B 17 | ||||
Sequence: RTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAER | ||||||
Repeat | 1079-1123 | LDL-receptor class B 18 | ||||
Sequence: GYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTL | ||||||
Repeat | 1124-1164 | LDL-receptor class B 19 | ||||
Sequence: GKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILG | ||||||
Repeat | 1165-1207 | LDL-receptor class B 20 | ||||
Sequence: KHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTGIHAVEEV | ||||||
Domain | 1213-1254 | EGF-like 4 | ||||
Sequence: SAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCG | ||||||
Domain | 1258-1296 | LDL-receptor class A 1 | ||||
Sequence: TCSPDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCP | ||||||
Domain | 1297-1333 | LDL-receptor class A 2 | ||||
Sequence: VCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEADCD | ||||||
Domain | 1335-1371 | LDL-receptor class A 3 | ||||
Sequence: ICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCE | ||||||
Region | 1475-1501 | Disordered | ||||
Sequence: RNHVTGASSSSSSSTKATLYPPILNPP | ||||||
Compositional bias | 1477-1494 | Polar residues | ||||
Sequence: HVTGASSSSSSSTKATLY | ||||||
Motif | 1500-1506 | PPPSP motif A | ||||
Sequence: PPPSPAT | ||||||
Motif | 1538-1545 | PPPSP motif B | ||||
Sequence: PPTTPCST | ||||||
Region | 1568-1615 | Disordered | ||||
Sequence: SDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS | ||||||
Motif | 1574-1581 | PPPSP motif C | ||||
Sequence: PPPPTPHS | ||||||
Motif | 1591-1596 | PPPSP motif D | ||||
Sequence: PPSPAT | ||||||
Compositional bias | 1601-1615 | Pro residues | ||||
Sequence: FHLFPPPPSPCTDSS | ||||||
Motif | 1605-1612 | PPPSP motif E | ||||
Sequence: PPPPSPCT |
Sequence similarities
Belongs to the LDLR family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length1,615
- Mass (Da)179,145
- Last updated2005-04-12 v2
- Checksum8BA25D07F51E02CA
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1477-1494 | Polar residues | ||||
Sequence: HVTGASSSSSSSTKATLY | ||||||
Sequence conflict | 1525-1528 | in Ref. 3; AAK52433 | ||||
Sequence: Missing | ||||||
Compositional bias | 1601-1615 | Pro residues | ||||
Sequence: FHLFPPPPSPCTDSS |
Polymorphism
Genetic variations in LRP5 define the bone mineral density quantitative trait locus 1 (BMND1) [MIM:601884]. Variance in bone mineral density influences bone mass and contributes to size determination in the general population.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF077820 EMBL· GenBank· DDBJ | AAC72791.1 EMBL· GenBank· DDBJ | mRNA | ||
AF064548 EMBL· GenBank· DDBJ | AAC36467.1 EMBL· GenBank· DDBJ | mRNA | ||
AF283321 EMBL· GenBank· DDBJ | AAK52433.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF283320 EMBL· GenBank· DDBJ | AAK52433.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AB017498 EMBL· GenBank· DDBJ | BAA33051.1 EMBL· GenBank· DDBJ | mRNA | ||
AP000807 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471076 EMBL· GenBank· DDBJ | EAW74705.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC150595 EMBL· GenBank· DDBJ | AAI50596.1 EMBL· GenBank· DDBJ | mRNA |