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UniProtKB - O75096 (LRP4_HUMAN)

Protein

Low-density lipoprotein receptor-related protein 4

Gene

LRP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity).By similarity2 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, Receptor
Biological processDifferentiation, Endocytosis, Wnt signaling pathway
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-3000178 ECM proteoglycans
SIGNORiO75096

Names & Taxonomyi

Protein namesi
Recommended name:
Low-density lipoprotein receptor-related protein 4
Short name:
LRP-4
Alternative name(s):
Multiple epidermal growth factor-like domains 7
Gene namesi
Name:LRP4
Synonyms:KIAA0816, LRP10, MEGF7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000134569.9
HGNCiHGNC:6696 LRP4
MIMi604270 gene
neXtProtiNX_O75096

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 1725ExtracellularSequence analysisAdd BLAST1705
Transmembranei1726 – 1746HelicalSequence analysisAdd BLAST21
Topological domaini1747 – 1905CytoplasmicSequence analysisAdd BLAST159

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cenani-Lenz syndactyly syndrome (CLSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet.
See also OMIM:212780
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063776137D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607222EnsemblClinVar.1
Natural variantiVAR_063777160C → Y in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607221EnsemblClinVar.1
Natural variantiVAR_063778449D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607224EnsemblClinVar.1
Natural variantiVAR_063779461T → P in CLSS. 1 PublicationCorresponds to variant dbSNP:rs267607223EnsemblClinVar.1
Natural variantiVAR_063780473L → F in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication1
Natural variantiVAR_063781529D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607220EnsemblClinVar.1
Natural variantiVAR_0637821017C → R in CLSS. 1 Publication1
Sclerosteosis 2 (SOST2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
See also OMIM:614305
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0666301170R → W in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906884EnsemblClinVar.1
Natural variantiVAR_0666311186W → S in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906883EnsemblClinVar.1
Myasthenic syndrome, congenital, 17 (CMS17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.
See also OMIM:616304
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0736951233E → K in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs786205153EnsemblClinVar.1
Natural variantiVAR_0736961277R → H in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs746136135EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1214N → A: Compromises Wnt-suppressive activity. 1 Publication1
Mutagenesisi1252V → A: Compromises AGRN-mediated up-regulation of MUSK signaling. 1 Publication1
Mutagenesisi1256Y → A: Compromises Wnt-suppressive activity. 1 Publication1
Mutagenesisi1287I → A: Compromises AGRN-mediated up-regulation of MUSK signaling. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi4038
MalaCardsiLRP4
MIMi212780 phenotype
614305 phenotype
616304 phenotype
OpenTargetsiENSG00000134569
Orphaneti3258 Cenani-Lenz syndrome
98913 Postsynaptic congenital myasthenic syndromes
3152 Sclerosteosis
PharmGKBiPA30454

Polymorphism and mutation databases

BioMutaiLRP4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000001732521 – 1905Low-density lipoprotein receptor-related protein 4Add BLAST1885

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi27 ↔ 44PROSITE-ProRule annotation
Disulfide bondi34 ↔ 57PROSITE-ProRule annotation
Disulfide bondi51 ↔ 66PROSITE-ProRule annotation
Disulfide bondi71 ↔ 83PROSITE-ProRule annotation
Disulfide bondi78 ↔ 96PROSITE-ProRule annotation
Disulfide bondi90 ↔ 105PROSITE-ProRule annotation
Disulfide bondi110 ↔ 122PROSITE-ProRule annotation
Disulfide bondi117 ↔ 135PROSITE-ProRule annotation
Disulfide bondi129 ↔ 143PROSITE-ProRule annotation
Disulfide bondi148 ↔ 160PROSITE-ProRule annotation
Disulfide bondi155 ↔ 173PROSITE-ProRule annotation
Disulfide bondi167 ↔ 182PROSITE-ProRule annotation
Disulfide bondi191 ↔ 203PROSITE-ProRule annotation
Disulfide bondi198 ↔ 216PROSITE-ProRule annotation
Disulfide bondi210 ↔ 225PROSITE-ProRule annotation
Disulfide bondi231 ↔ 243PROSITE-ProRule annotation
Disulfide bondi238 ↔ 256PROSITE-ProRule annotation
Disulfide bondi250 ↔ 265PROSITE-ProRule annotation
Glycosylationi264N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi270 ↔ 282PROSITE-ProRule annotation
Disulfide bondi277 ↔ 295PROSITE-ProRule annotation
Disulfide bondi289 ↔ 304PROSITE-ProRule annotation
Disulfide bondi312 ↔ 324PROSITE-ProRule annotation
Disulfide bondi319 ↔ 337PROSITE-ProRule annotation
Disulfide bondi331 ↔ 349PROSITE-ProRule annotation
Disulfide bondi358 ↔ 369PROSITE-ProRule annotation
Disulfide bondi365 ↔ 378PROSITE-ProRule annotation
Disulfide bondi380 ↔ 393PROSITE-ProRule annotation
Disulfide bondi399 ↔ 409PROSITE-ProRule annotation
Disulfide bondi405 ↔ 418PROSITE-ProRule annotation
Disulfide bondi420 ↔ 433PROSITE-ProRule annotation
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi702 ↔ 713PROSITE-ProRule annotation
Disulfide bondi709 ↔ 722PROSITE-ProRule annotation
Glycosylationi719N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi724 ↔ 736PROSITE-ProRule annotation
Glycosylationi901N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1077N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1415N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1467N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO75096
MaxQBiO75096
PaxDbiO75096
PeptideAtlasiO75096
PRIDEiO75096
ProteomicsDBi49760
TopDownProteomicsiO75096

PTM databases

iPTMnetiO75096
PhosphoSitePlusiO75096

Expressioni

Tissue specificityi

Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in osteoclast. Expressed in several regions of the brain.1 Publication

Gene expression databases

BgeeiENSG00000134569 Expressed in 186 organ(s), highest expression level in tibia
CleanExiHS_LRP4
ExpressionAtlasiO75096 baseline and differential
GenevisibleiO75096 HS

Organism-specific databases

HPAiHPA011934
HPA012300

Interactioni

Subunit structurei

Homooligomer. Interacts with MUSK; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Interacts (via the extracellular domain) with SOST; the interaction facilitates the inhibition of Wnt signaling (PubMed:21471202). Interacts with MESD; the interaction promotes glycosylation of LRP4 and its cell-surface expression (By similarity).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SOSTQ9BQB44EBI-310873,EBI-5746563

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110218, 33 interactors
IntActiO75096, 5 interactors
STRINGi9606.ENSP00000367888

Structurei

3D structure databases

ProteinModelPortaliO75096
SMRiO75096
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 67LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST42
Domaini70 – 106LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST37
Domaini109 – 144LDL-receptor class A 3PROSITE-ProRule annotationAdd BLAST36
Domaini147 – 183LDL-receptor class A 4PROSITE-ProRule annotationAdd BLAST37
Domaini190 – 226LDL-receptor class A 5PROSITE-ProRule annotationAdd BLAST37
Domaini230 – 266LDL-receptor class A 6PROSITE-ProRule annotationAdd BLAST37
Domaini269 – 305LDL-receptor class A 7PROSITE-ProRule annotationAdd BLAST37
Domaini311 – 350LDL-receptor class A 8PROSITE-ProRule annotationAdd BLAST40
Domaini354 – 394EGF-like 1; calcium-bindingSequence analysisAdd BLAST41
Domaini395 – 434EGF-like 2; calcium-bindingSequence analysisAdd BLAST40
Repeati480 – 522LDL-receptor class B 1Add BLAST43
Repeati523 – 565LDL-receptor class B 2Add BLAST43
Repeati566 – 609LDL-receptor class B 3Add BLAST44
Repeati610 – 652LDL-receptor class B 4Add BLAST43
Repeati653 – 693LDL-receptor class B 5Add BLAST41
Domaini698 – 737EGF-like 3Add BLAST40
Repeati785 – 827LDL-receptor class B 6Add BLAST43
Repeati828 – 870LDL-receptor class B 7Add BLAST43
Repeati871 – 914LDL-receptor class B 8Add BLAST44
Repeati915 – 956LDL-receptor class B 9Add BLAST42
Repeati957 – 998LDL-receptor class B 10Add BLAST42
Repeati1093 – 1135LDL-receptor class B 11Add BLAST43
Repeati1136 – 1178LDL-receptor class B 12Add BLAST43
Repeati1179 – 1222LDL-receptor class B 13Add BLAST44
Repeati1223 – 1263LDL-receptor class B 14Add BLAST41
Repeati1264 – 1306LDL-receptor class B 15Add BLAST43
Repeati1397 – 1439LDL-receptor class B 16Add BLAST43
Repeati1440 – 1482LDL-receptor class B 17Add BLAST43
Repeati1483 – 1526LDL-receptor class B 18Add BLAST44
Repeati1527 – 1568LDL-receptor class B 19Add BLAST42
Repeati1569 – 1610LDL-receptor class B 20Add BLAST42

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1766 – 1769Endocytosis signalSequence analysis4

Sequence similaritiesi

Belongs to the LDLR family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1215 Eukaryota
ENOG410XPR2 LUCA
GeneTreeiENSGT00760000118968
HOGENOMiHOG000047507
HOVERGENiHBG049163
InParanoidiO75096
KOiK20051
OMAiLNGSNME
OrthoDBiEOG091G0178
PhylomeDBiO75096
TreeFamiTF315253

Family and domain databases

CDDicd00112 LDLa, 7 hits
Gene3Di2.120.10.30, 4 hits
InterProiView protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR000033 LDLR_classB_rpt
IPR002172 LDrepeatLR_classA_rpt
IPR030799 LRP4
PANTHERiPTHR44017:SF4 PTHR44017:SF4, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 1 hit
PF00057 Ldl_recept_a, 8 hits
PF00058 Ldl_recept_b, 16 hits
PRINTSiPR00261 LDLRECEPTOR
SMARTiView protein in SMART
SM00181 EGF, 7 hits
SM00179 EGF_CA, 3 hits
SM00192 LDLa, 8 hits
SM00135 LY, 20 hits
SUPFAMiSSF57184 SSF57184, 2 hits
SSF57424 SSF57424, 8 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS01186 EGF_2, 3 hits
PS01187 EGF_CA, 1 hit
PS01209 LDLRA_1, 8 hits
PS50068 LDLRA_2, 8 hits
PS51120 LDLRB, 20 hits

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

O75096-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRRQWGALLL GALLCAHGLA SSPECACGRS HFTCAVSALG ECTCIPAQWQ 
        60         70         80         90        100
CDGDNDCGDH SDEDGCILPT CSPLDFHCDN GKCIRRSWVC DGDNDCEDDS 
       110        120        130        140        150
DEQDCPPREC EEDEFPCQNG YCIRSLWHCD GDNDCGDNSD EQCDMRKCSD 
       160        170        180        190        200
KEFRCSDGSC IAEHWYCDGD TDCKDGSDEE NCPSAVPAPP CNLEEFQCAY 
       210        220        230        240        250
GRCILDIYHC DGDDDCGDWS DESDCSSHQP CRSGEFMCDS GLCINAGWRC 
       260        270        280        290        300
DGDADCDDQS DERNCTTSMC TAEQFRCHSG RCVRLSWRCD GEDDCADNSD 
       310        320        330        340        350
EENCENTGSP QCALDQFLCW NGRCIGQRKL CNGVNDCGDN SDESPQQNCR 
       360        370        380        390        400
PRTGEENCNV NNGGCAQKCQ MVRGAVQCTC HTGYRLTEDG HTCQDVNECA 
       410        420        430        440        450
EEGYCSQGCT NSEGAFQCWC ETGYELRPDR RSCKALGPEP VLLFANRIDI 
       460        470        480        490        500
RQVLPHRSEY TLLLNNLENA IALDFHHRRE LVFWSDVTLD RILRANLNGS 
       510        520        530        540        550
NVEEVVSTGL ESPGGLAVDW VHDKLYWTDS GTSRIEVANL DGAHRKVLLW 
       560        570        580        590        600
QNLEKPRAIA LHPMEGTIYW TDWGNTPRIE ASSMDGSGRR IIADTHLFWP 
       610        620        630        640        650
NGLTIDYAGR RMYWVDAKHH VIERANLDGS HRKAVISQGL PHPFAITVFE 
       660        670        680        690        700
DSLYWTDWHT KSINSANKFT GKNQEIIRNK LHFPMDIHTL HPQRQPAGKN 
       710        720        730        740        750
RCGDNNGGCT HLCLPSGQNY TCACPTGFRK ISSHACAQSL DKFLLFARRM 
       760        770        780        790        800
DIRRISFDTE DLSDDVIPLA DVRSAVALDW DSRDDHVYWT DVSTDTISRA 
       810        820        830        840        850
KWDGTGQEVV VDTSLESPAG LAIDWVTNKL YWTDAGTDRI EVANTDGSMR 
       860        870        880        890        900
TVLIWENLDR PRDIVVEPMG GYMYWTDWGA SPKIERAGMD ASGRQVIISS 
       910        920        930        940        950
NLTWPNGLAI DYGSQRLYWA DAGMKTIEFA GLDGSKRKVL IGSQLPHPFG 
       960        970        980        990       1000
LTLYGERIYW TDWQTKSIQS ADRLTGLDRE TLQENLENLM DIHVFHRRRP 
      1010       1020       1030       1040       1050
PVSTPCAMEN GGCSHLCLRS PNPSGFSCTC PTGINLLSDG KTCSPGMNSF 
      1060       1070       1080       1090       1100
LIFARRIDIR MVSLDIPYFA DVVVPINITM KNTIAIGVDP QEGKVYWSDS 
      1110       1120       1130       1140       1150
TLHRISRANL DGSQHEDIIT TGLQTTDGLA VDAIGRKVYW TDTGTNRIEV 
      1160       1170       1180       1190       1200
GNLDGSMRKV LVWQNLDSPR AIVLYHEMGF MYWTDWGENA KLERSGMDGS 
      1210       1220       1230       1240       1250
DRAVLINNNL GWPNGLTVDK ASSQLLWADA HTERIEAADL NGANRHTLVS 
      1260       1270       1280       1290       1300
PVQHPYGLTL LDSYIYWTDW QTRSIHRADK GTGSNVILVR SNLPGLMDMQ 
      1310       1320       1330       1340       1350
AVDRAQPLGF NKCGSRNGGC SHLCLPRPSG FSCACPTGIQ LKGDGKTCDP 
      1360       1370       1380       1390       1400
SPETYLLFSS RGSIRRISLD TSDHTDVHVP VPELNNVISL DYDSVDGKVY 
      1410       1420       1430       1440       1450
YTDVFLDVIR RADLNGSNME TVIGRGLKTT DGLAVDWVAR NLYWTDTGRN 
      1460       1470       1480       1490       1500
TIEASRLDGS CRKVLINNSL DEPRAIAVFP RKGYLFWTDW GHIAKIERAN 
      1510       1520       1530       1540       1550
LDGSERKVLI NTDLGWPNGL TLDYDTRRIY WVDAHLDRIE SADLNGKLRQ 
      1560       1570       1580       1590       1600
VLVSHVSHPF ALTQQDRWIY WTDWQTKSIQ RVDKYSGRNK ETVLANVEGL 
      1610       1620       1630       1640       1650
MDIIVVSPQR QTGTNACGVN NGGCTHLCFA RASDFVCACP DEPDSRPCSL 
      1660       1670       1680       1690       1700
VPGLVPPAPR ATGMSEKSPV LPNTPPTTLY SSTTRTRTSL EEVEGRCSER 
      1710       1720       1730       1740       1750
DARLGLCARS NDAVPAAPGE GLHISYAIGG LLSILLILVV IAALMLYRHK 
      1760       1770       1780       1790       1800
KSKFTDPGMG NLTYSNPSYR TSTQEVKIEA IPKPAMYNQL CYKKEGGPDH 
      1810       1820       1830       1840       1850
NYTKEKIKIV EGICLLSGDD AEWDDLKQLR SSRGGLLRDH VCMKTDTVSI 
      1860       1870       1880       1890       1900
QASSGSLDDT ETEQLLQEEQ SECSSVHTAA TPERRGSLPD TGWKHERKLS 

SESQV
Length:1,905
Mass (Da):212,045
Last modified:November 24, 2009 - v4
Checksum:iA39117C18279F9AA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PNJ5E9PNJ5_HUMAN
Low-density lipoprotein receptor-re...
LRP4
133Annotation score:

Sequence cautioni

The sequence BAE19679 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1472 – 1475EPRA → D in BAE19679 (PubMed:9693030).Curated4
Sequence conflicti1478V → A in BAE19679 (PubMed:9693030).Curated1
Sequence conflicti1862T → M in BAD83615 (Ref. 1) Curated1
Sequence conflicti1862T → M in BAA32468 (PubMed:9693030).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063776137D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607222EnsemblClinVar.1
Natural variantiVAR_063777160C → Y in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607221EnsemblClinVar.1
Natural variantiVAR_058290314L → S. Corresponds to variant dbSNP:rs7926667EnsemblClinVar.1
Natural variantiVAR_063778449D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607224EnsemblClinVar.1
Natural variantiVAR_063779461T → P in CLSS. 1 PublicationCorresponds to variant dbSNP:rs267607223EnsemblClinVar.1
Natural variantiVAR_063780473L → F in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication1
Natural variantiVAR_063781529D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs267607220EnsemblClinVar.1
Natural variantiVAR_0637821017C → R in CLSS. 1 Publication1
Natural variantiVAR_0579551086I → V3 PublicationsCorresponds to variant dbSNP:rs6485702EnsemblClinVar.1
Natural variantiVAR_0666301170R → W in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906884EnsemblClinVar.1
Natural variantiVAR_0666311186W → S in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling; has no effect on AGRN-mediated MUSK signaling; retains the ability to bind AGRN and MUSK. 2 PublicationsCorresponds to variant dbSNP:rs387906883EnsemblClinVar.1
Natural variantiVAR_0582911203A → V. Corresponds to variant dbSNP:rs2306033EnsemblClinVar.1
Natural variantiVAR_0736951233E → K in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs786205153EnsemblClinVar.1
Natural variantiVAR_0582921238A → T. Corresponds to variant dbSNP:rs2306031Ensembl.1
Natural variantiVAR_0736961277R → H in CMS17; decreases binding affinity for AGRN and MUSK proteins; does not enhance downstream activation of the MUSK signaling pathway thus impairing clustering of AChRs. 1 PublicationCorresponds to variant dbSNP:rs746136135EnsemblClinVar.1
Natural variantiVAR_0579561554S → G3 PublicationsCorresponds to variant dbSNP:rs2306029EnsemblClinVar.1
Natural variantiVAR_0579571646R → Q3 PublicationsCorresponds to variant dbSNP:rs3816614EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084910 mRNA Translation: BAD83615.1
AB011540 mRNA Translation: BAA32468.1
AB231861 mRNA Translation: BAE19679.1 Different initiation.
AC021573 Genomic DNA No translation available.
BC037360 mRNA Translation: AAH37360.1
BC041048 mRNA Translation: AAH41048.1
BC136667 mRNA Translation: AAI36668.1
BC136668 mRNA Translation: AAI36669.1
CCDSiCCDS31478.1
RefSeqiNP_002325.2, NM_002334.3
UniGeneiHs.4930

Genome annotation databases

EnsembliENST00000378623; ENSP00000367888; ENSG00000134569
GeneIDi4038
KEGGihsa:4038
UCSCiuc001ndn.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRP4_HUMAN
AccessioniPrimary (citable) accession number: O75096
Secondary accession number(s): B2RN39, Q4AC85, Q5KTZ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: November 24, 2009
Last modified: September 12, 2018
This is version 159 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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