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O75096

- LRP4_HUMAN

UniProt

O75096 - LRP4_HUMAN

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Protein

Low-density lipoprotein receptor-related protein 4

Gene

LRP4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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.2 Publications

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. receptor tyrosine kinase binding Source: UniProt
  3. scaffold protein binding Source: UniProt

GO - Biological processi

  1. dendrite morphogenesis Source: UniProt
  2. dorsal/ventral pattern formation Source: Ensembl
  3. embryonic digit morphogenesis Source: Ensembl
  4. endocytosis Source: UniProtKB-KW
  5. extracellular matrix organization Source: Reactome
  6. hair follicle development Source: Ensembl
  7. kidney development Source: UniProt
  8. limb development Source: UniProt
  9. negative regulation of axonogenesis Source: UniProt
  10. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  11. negative regulation of ossification Source: UniProtKB
  12. odontogenesis of dentin-containing tooth Source: Ensembl
  13. positive regulation of presynaptic membrane organization Source: UniProt
  14. postsynaptic membrane assembly Source: UniProt
  15. presynaptic membrane assembly Source: UniProt
  16. protein heterotetramerization Source: UniProt
  17. proximal/distal pattern formation Source: Ensembl
  18. regulation of protein phosphorylation Source: Ensembl
  19. skeletal muscle acetylcholine-gated channel clustering Source: UniProt
  20. synapse organization Source: UniProt
  21. synaptic growth at neuromuscular junction Source: UniProt
  22. Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Receptor

Keywords - Biological processi

Differentiation, Endocytosis, Wnt signaling pathway

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_163906. ECM proteoglycans.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:6696. LRP4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 17251705ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1726 – 174621HelicalSequence AnalysisAdd
BLAST
Topological domaini1747 – 1905159CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell surface Source: UniProt
  2. dendrite Source: UniProt
  3. integral component of membrane Source: UniProtKB-KW
  4. neuromuscular junction Source: UniProt
  5. neuronal cell body Source: UniProt
  6. postsynaptic density Source: UniProt
  7. synaptic membrane Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063776
Natural varianti160 – 1601C → Y in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063777
Natural varianti449 – 4491D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063778
Natural varianti461 – 4611T → P in CLSS. 1 Publication
VAR_063779
Natural varianti473 – 4731L → F in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063780
Natural varianti529 – 5291D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063781
Natural varianti1017 – 10171C → R in CLSS. 1 Publication
VAR_063782
Sclerosteosis 2 (SOST2) [MIM:614305]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1170 – 11701R → W in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling. 1 Publication
VAR_066630
Natural varianti1186 – 11861W → S in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling. 1 Publication
VAR_066631

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi212780. phenotype.
614305. phenotype.
Orphaneti3258. Cenani-Lenz syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
3152. Sclerosteosis.
PharmGKBiPA30454.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 19051885Low-density lipoprotein receptor-related protein 4PRO_0000017325Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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
Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis
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
Glycosylationi498 – 4981N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi702 ↔ 713PROSITE-ProRule annotation
Disulfide bondi709 ↔ 722PROSITE-ProRule annotation
Glycosylationi719 – 7191N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi724 ↔ 736PROSITE-ProRule annotation
Glycosylationi901 – 9011N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1077 – 10771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1415 – 14151N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1467 – 14671N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO75096.
PaxDbiO75096.
PRIDEiO75096.

PTM databases

PhosphoSiteiO75096.

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

BgeeiO75096.
CleanExiHS_LRP4.
ExpressionAtlasiO75096. baseline and differential.
GenevestigatoriO75096.

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.By similarity1 Publication

Protein-protein interaction databases

BioGridi110218. 10 interactions.
IntActiO75096. 3 interactions.
STRINGi9606.ENSP00000367888.

Structurei

3D structure databases

ProteinModelPortaliO75096.
SMRiO75096. Positions 27-1640.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini26 – 6742LDL-receptor class A 1PROSITE-ProRule annotationAdd
BLAST
Domaini70 – 10637LDL-receptor class A 2PROSITE-ProRule annotationAdd
BLAST
Domaini109 – 14436LDL-receptor class A 3PROSITE-ProRule annotationAdd
BLAST
Domaini147 – 18337LDL-receptor class A 4PROSITE-ProRule annotationAdd
BLAST
Domaini190 – 22637LDL-receptor class A 5PROSITE-ProRule annotationAdd
BLAST
Domaini230 – 26637LDL-receptor class A 6PROSITE-ProRule annotationAdd
BLAST
Domaini269 – 30537LDL-receptor class A 7PROSITE-ProRule annotationAdd
BLAST
Domaini311 – 35040LDL-receptor class A 8PROSITE-ProRule annotationAdd
BLAST
Domaini354 – 39441EGF-like 1; calcium-bindingSequence AnalysisAdd
BLAST
Domaini395 – 43440EGF-like 2; calcium-bindingSequence AnalysisAdd
BLAST
Repeati480 – 52243LDL-receptor class B 1Add
BLAST
Repeati523 – 56543LDL-receptor class B 2Add
BLAST
Repeati566 – 60944LDL-receptor class B 3Add
BLAST
Repeati610 – 65243LDL-receptor class B 4Add
BLAST
Repeati653 – 69341LDL-receptor class B 5Add
BLAST
Domaini698 – 73740EGF-like 3Add
BLAST
Repeati785 – 82743LDL-receptor class B 6Add
BLAST
Repeati828 – 87043LDL-receptor class B 7Add
BLAST
Repeati871 – 91444LDL-receptor class B 8Add
BLAST
Repeati915 – 95642LDL-receptor class B 9Add
BLAST
Repeati957 – 99842LDL-receptor class B 10Add
BLAST
Repeati1093 – 113543LDL-receptor class B 11Add
BLAST
Repeati1136 – 117843LDL-receptor class B 12Add
BLAST
Repeati1179 – 122244LDL-receptor class B 13Add
BLAST
Repeati1223 – 126341LDL-receptor class B 14Add
BLAST
Repeati1264 – 130643LDL-receptor class B 15Add
BLAST
Repeati1397 – 143943LDL-receptor class B 16Add
BLAST
Repeati1440 – 148243LDL-receptor class B 17Add
BLAST
Repeati1483 – 152644LDL-receptor class B 18Add
BLAST
Repeati1527 – 156842LDL-receptor class B 19Add
BLAST
Repeati1569 – 161042LDL-receptor class B 20Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi1766 – 17694Endocytosis signalSequence Analysis

Sequence similaritiesi

Belongs to the LDLR family.Curated
Contains 3 EGF-like domains.Curated
Contains 8 LDL-receptor class A domains.PROSITE-ProRule annotation
Contains 20 LDL-receptor class B repeats.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG235850.
GeneTreeiENSGT00760000118968.
HOGENOMiHOG000047507.
HOVERGENiHBG049163.
InParanoidiO75096.
OMAiPAPPCNL.
OrthoDBiEOG75XGK3.
PhylomeDBiO75096.
TreeFamiTF315253.

Family and domain databases

Gene3Di2.120.10.30. 4 hits.
4.10.400.10. 8 hits.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR023415. LDLR_class-A_CS.
IPR000033. LDLR_classB_rpt.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF00057. Ldl_recept_a. 8 hits.
PF00058. Ldl_recept_b. 16 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 1 hit.
SM00192. LDLa. 8 hits.
SM00135. LY. 20 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
SSF57424. SSF57424. 8 hits.
PROSITEiPS00010. 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.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

O75096-1 [UniParc]FASTAAdd to Basket

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        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

Sequence cautioni

The sequence BAE19679.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1472 – 14754EPRA → D in BAE19679. (PubMed:9693030)Curated
Sequence conflicti1478 – 14781V → A in BAE19679. (PubMed:9693030)Curated
Sequence conflicti1862 – 18621T → M in BAD83615. 1 PublicationCurated
Sequence conflicti1862 – 18621T → M in BAA32468. (PubMed:9693030)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063776
Natural varianti160 – 1601C → Y in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063777
Natural varianti314 – 3141L → S.
Corresponds to variant rs7926667 [ dbSNP | Ensembl ].
VAR_058290
Natural varianti449 – 4491D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063778
Natural varianti461 – 4611T → P in CLSS. 1 Publication
VAR_063779
Natural varianti473 – 4731L → F in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063780
Natural varianti529 – 5291D → N in CLSS; abolishes the antagonistic effect of LRP4 on LRP6-mediated activation of Wnt signaling. 1 Publication
VAR_063781
Natural varianti1017 – 10171C → R in CLSS. 1 Publication
VAR_063782
Natural varianti1086 – 10861I → V.3 Publications
Corresponds to variant rs6485702 [ dbSNP | Ensembl ].
VAR_057955
Natural varianti1170 – 11701R → W in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling. 1 Publication
VAR_066630
Natural varianti1186 – 11861W → S in SOST2; impairs the interaction with SOST; loss of function as facilitator of SOST-mediated inhibition of Wnt signaling. 1 Publication
VAR_066631
Natural varianti1203 – 12031A → V.
Corresponds to variant rs2306033 [ dbSNP | Ensembl ].
VAR_058291
Natural varianti1238 – 12381A → T.
Corresponds to variant rs2306031 [ dbSNP | Ensembl ].
VAR_058292
Natural varianti1554 – 15541S → G.3 Publications
Corresponds to variant rs2306029 [ dbSNP | Ensembl ].
VAR_057956
Natural varianti1646 – 16461R → Q.3 Publications
Corresponds to variant rs3816614 [ dbSNP | Ensembl ].
VAR_057957

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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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 .
CCDSi CCDS31478.1.
RefSeqi NP_002325.2. NM_002334.3.
UniGenei Hs.4930.

3D structure databases

ProteinModelPortali O75096.
SMRi O75096. Positions 27-1640.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110218. 10 interactions.
IntActi O75096. 3 interactions.
STRINGi 9606.ENSP00000367888.

PTM databases

PhosphoSitei O75096.

Proteomic databases

MaxQBi O75096.
PaxDbi O75096.
PRIDEi O75096.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378623 ; ENSP00000367888 ; ENSG00000134569 .
GeneIDi 4038.
KEGGi hsa:4038.
UCSCi uc001ndn.4. human.

Organism-specific databases

CTDi 4038.
GeneCardsi GC11M049899.
H-InvDB HIX0009607.
HGNCi HGNC:6696. LRP4.
HPAi HPA011934.
HPA012300.
MIMi 212780. phenotype.
604270. gene.
614305. phenotype.
neXtProti NX_O75096.
Orphaneti 3258. Cenani-Lenz syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
3152. Sclerosteosis.
PharmGKBi PA30454.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG235850.
GeneTreei ENSGT00760000118968.
HOGENOMi HOG000047507.
HOVERGENi HBG049163.
InParanoidi O75096.
OMAi PAPPCNL.
OrthoDBi EOG75XGK3.
PhylomeDBi O75096.
TreeFami TF315253.

Enzyme and pathway databases

Reactomei REACT_163906. ECM proteoglycans.

Miscellaneous databases

ChiTaRSi LRP4. human.
GeneWikii Low_density_lipoprotein_receptor-related_protein_4.
GenomeRNAii 4038.
NextBioi 15818.
PROi O75096.
SOURCEi Search...

Gene expression databases

Bgeei O75096.
CleanExi HS_LRP4.
ExpressionAtlasi O75096. baseline and differential.
Genevestigatori O75096.

Family and domain databases

Gene3Di 2.120.10.30. 4 hits.
4.10.400.10. 8 hits.
InterProi IPR011042. 6-blade_b-propeller_TolB-like.
IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR023415. LDLR_class-A_CS.
IPR000033. LDLR_classB_rpt.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view ]
Pfami PF12662. cEGF. 1 hit.
PF00057. Ldl_recept_a. 8 hits.
PF00058. Ldl_recept_b. 16 hits.
[Graphical view ]
PRINTSi PR00261. LDLRECEPTOR.
SMARTi SM00181. EGF. 4 hits.
SM00179. EGF_CA. 1 hit.
SM00192. LDLa. 8 hits.
SM00135. LY. 20 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 2 hits.
SSF57424. SSF57424. 8 hits.
PROSITEi 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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Low density lipoprotein receptor-related protein 10."
    Ishikawa K., Fujimoto H., Kim D., Saeki S.
    Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-1086; GLY-1554 AND GLN-1646.
    Tissue: Brain.
  2. "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening."
    Nakayama M., Nakajima D., Nagase T., Nomura N., Seki N., Ohara O.
    Genomics 51:27-34(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-1086; GLY-1554 AND GLN-1646.
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-1086; GLY-1554 AND GLN-1646.
    Tissue: Muscle.
  5. Cited for: FUNCTION IN THE REGULATION OF CANONICAL WTN SIGNALING, VARIANTS CLSS ASN-137; TYR-160; ASN-449; PRO-461; PHE-473; ASN-529 AND ARG-1017, CHARACTERIZATION OF VARIANTS CLSS ASN-137; TYR-160; ASN-449; PHE-473 AND ASN-529.
  6. Cited for: FUNCTION, INTERACTION WITH SOST, TISSUE SPECIFICITY, VARIANTS SOST2 TRP-1170 AND SER-1186, CHARACTERIZATION OF VARIANTS SOST2 TRP-1170 AND SER-1186, IDENTIFICATION BY MASS SPECTROMETRY.

Entry informationi

Entry nameiLRP4_HUMAN
AccessioniPrimary (citable) accession number: O75096
Secondary accession number(s): B2RN39, Q4AC85, Q5KTZ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: November 24, 2009
Last modified: November 26, 2014
This is version 130 of the entry and version 4 of the sequence. [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

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3