low density lipoprotein (LDL) receptor related protein (LRP) 5 or 7

Function: - involved in Wnt1 signaling pathway, - interacts with frizzled, axin Structure: - belongs to the LDLR family - contains 4 EGF-like domains - contains 3 LDL-receptor class A domains - contains 20 LDL-receptor class B repeats Compartment: membrane Expression: - widely expressed - high expression in liver Genetics: - polymorphisms associated with variation in bone mass & size Pathology: - mutations in LRP5 are associated with a) osteoporosis-pseudoglioma syndrome b) susceptibility to osteoporosis c) familial exudative vitreoretinopathy (FEVR) d) high bone mass trait (HBM) e) endosteal hyperostosis Worth type f) autosomal dominant osteosclerosis g) osteopetrosis type 1 h) van Buchem disease type 2

General

low-density lipoprotein (LDL) receptor related protein (LRP) phosphoprotein

Properties

SIZE: MW = 179 kD entity length = 1615 aa COMPARTMENT: cellular membrane MOTIF: signal sequence {1-31} LDL-receptor class B {75-118} MOTIF: consensus repeat {78-81} SEQUENCE-IS: YWTD N-glycosylation site {N93} LDL-receptor class B {120-161} MOTIF: consensus repeat {123-126} SEQUENCE-IS: YWTD N-glycosylation site {N138} LDL-receptor class B {163-205} MOTIF: consensus repeat {166-169} SEQUENCE-IS: YWTD LDL-receptor class B {207-246} LDL-receptor class B {248-289} MOTIF: consensus repeat {251-254} SEQUENCE-IS: YWTD EGF domain {295-337} MOTIF: cysteine residue {C299} MODIFICATION: cysteine residue {C310} cysteine residue {C306} MODIFICATION: cysteine residue {C321} cysteine residue {C310} MODIFICATION: cysteine residue {C299} cysteine residue {C321} MODIFICATION: cysteine residue {C306} cysteine residue {C323} MODIFICATION: cysteine residue {C336} cysteine residue {C336} MODIFICATION: cysteine residue {C323} LDL-receptor class B {385-426} MOTIF: consensus repeat {388-391} SEQUENCE-IS: YWTD LDL-receptor class B {428-469} MOTIF: consensus repeat {431-434} SEQUENCE-IS: YWTD N-glycosylation site {N446} LDL-receptor class B {471-513} MOTIF: consensus repeat {474-477} SEQUENCE-IS: YWTD N-glycosylation site {N499} LDL-receptor class B {515-558} consensus repeat {559-562} SEQUENCE-IS: YWTD EGF domain {601-641} MOTIF: cysteine residue {C605} MODIFICATION: cysteine residue {C616} cysteine residue {C612} MODIFICATION: cysteine residue {C625} cysteine residue {C616} MODIFICATION: cysteine residue {C605} cysteine residue {C625} MODIFICATION: cysteine residue {C612} cysteine residue {C627} MODIFICATION: cysteine residue {C640} cysteine residue {C640} MODIFICATION: cysteine residue {C627} LDL-receptor class B {687-728} MOTIF: consensus repeat {690-693} SEQUENCE-IS: YWTD N-glycosylation site {N705} LDL-receptor class B {730-771} LDL-receptor class B {773-814} LDL-receptor class B {816-853} MOTIF: consensus repeat {819-822} SEQUENCE-IS: YWTD LDL-receptor class B {856-897} MOTIF: consensus repeat {859-862} SEQUENCE-IS: YWTD N-glycosylation site {N878} EGF domain {902-942} MOTIF: cysteine residue {C906} MODIFICATION: cysteine residue {C917} cysteine residue {C913} MODIFICATION: cysteine residue {C926} cysteine residue {C917} MODIFICATION: cysteine residue {C906} cysteine residue {C926} MODIFICATION: cysteine residue {C913} cysteine residue {C928} MODIFICATION: cysteine residue {C941} cysteine residue {C941} MODIFICATION: cysteine residue {C928} LDL-receptor class B {989-1034} LDL-receptor class B {1036-1077} LDL-receptor class B {1079-1122} LDL-receptor class B {1124-1162} LDL-receptor class B {1165-1207} EGF domain {1213-1254} MOTIF: cysteine residue {C1217} MODIFICATION: cysteine residue {C1228} cysteine residue {C1224} MODIFICATION: cysteine residue {C1238} cysteine residue {C1228} MODIFICATION: cysteine residue {C1217} cysteine residue {C1238} MODIFICATION: cysteine residue {C1224} cysteine residue {C1240} MODIFICATION: cysteine residue {C1253} cysteine residue {C1253} MODIFICATION: cysteine residue {C1240} LDL-receptor class A {1258-1296} MOTIF: cysteine residue {C1259} MODIFICATION: cysteine residue {C1273} cysteine residue {C1266} MODIFICATION: cysteine residue {C1286} cysteine residue {C1273} MODIFICATION: cysteine residue {C1259} cysteine residue {C1280} MODIFICATION: cysteine residue {C1295} cysteine residue {C1286} MODIFICATION: cysteine residue {C1266} cysteine residue {C1295} MODIFICATION: cysteine residue {C1280} LDL-receptor class A {1297-1333} MOTIF: cysteine residue {C1298} MODIFICATION: cysteine residue {C1310} cysteine residue {C1305} MODIFICATION: cysteine residue {C1323} cysteine residue {C1310} MODIFICATION: cysteine residue {C1298} cysteine residue {C1317} MODIFICATION: cysteine residue {C1332} cysteine residue {C1323} MODIFICATION: cysteine residue {C1305} cysteine residue {C1332} MODIFICATION: cysteine residue {C1317} LDL-receptor class A {1335-1371} MOTIF: cysteine residue {C1336} MODIFICATION: cysteine residue {C1348} cysteine residue {C1343} MODIFICATION: cysteine residue {C1361} cysteine residue {C1348} MODIFICATION: cysteine residue {C1336} cysteine residue {C1355} MODIFICATION: cysteine residue {C1370} cysteine residue {C1361} MODIFICATION: cysteine residue {C1343} cysteine residue {C1370} MODIFICATION: cysteine residue {C1355} transmembrane domain {1385-1407} proline-rich region SITE: 1495-1610 MOTIF: proline residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 603506 UniProt O75197 PFAM correlations Entrez Gene 4041 Kegg hsa:4041