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O75096

- LRP4_HUMAN

UniProt

O75096 - LRP4_HUMAN

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
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 4 (24 Nov 2009)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    3. receptor tyrosine kinase binding Source: UniProt
    4. 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

    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

    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

    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

    ArrayExpressiO75096.
    BgeeiO75096.
    CleanExiHS_LRP4.
    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. 5 interactions.
    IntActiO75096. 3 interactions.
    STRINGi9606.ENSP00000367888.

    Structurei

    3D structure databases

    ProteinModelPortaliO75096.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1726 – 174621HelicalSequence AnalysisAdd
    BLAST

    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.
    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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    MRRQWGALLL GALLCAHGLA SSPECACGRS HFTCAVSALG ECTCIPAQWQ     50
    CDGDNDCGDH SDEDGCILPT CSPLDFHCDN GKCIRRSWVC DGDNDCEDDS 100
    DEQDCPPREC EEDEFPCQNG YCIRSLWHCD GDNDCGDNSD EQCDMRKCSD 150
    KEFRCSDGSC IAEHWYCDGD TDCKDGSDEE NCPSAVPAPP CNLEEFQCAY 200
    GRCILDIYHC DGDDDCGDWS DESDCSSHQP CRSGEFMCDS GLCINAGWRC 250
    DGDADCDDQS DERNCTTSMC TAEQFRCHSG RCVRLSWRCD GEDDCADNSD 300
    EENCENTGSP QCALDQFLCW NGRCIGQRKL CNGVNDCGDN SDESPQQNCR 350
    PRTGEENCNV NNGGCAQKCQ MVRGAVQCTC HTGYRLTEDG HTCQDVNECA 400
    EEGYCSQGCT NSEGAFQCWC ETGYELRPDR RSCKALGPEP VLLFANRIDI 450
    RQVLPHRSEY TLLLNNLENA IALDFHHRRE LVFWSDVTLD RILRANLNGS 500
    NVEEVVSTGL ESPGGLAVDW VHDKLYWTDS GTSRIEVANL DGAHRKVLLW 550
    QNLEKPRAIA LHPMEGTIYW TDWGNTPRIE ASSMDGSGRR IIADTHLFWP 600
    NGLTIDYAGR RMYWVDAKHH VIERANLDGS HRKAVISQGL PHPFAITVFE 650
    DSLYWTDWHT KSINSANKFT GKNQEIIRNK LHFPMDIHTL HPQRQPAGKN 700
    RCGDNNGGCT HLCLPSGQNY TCACPTGFRK ISSHACAQSL DKFLLFARRM 750
    DIRRISFDTE DLSDDVIPLA DVRSAVALDW DSRDDHVYWT DVSTDTISRA 800
    KWDGTGQEVV VDTSLESPAG LAIDWVTNKL YWTDAGTDRI EVANTDGSMR 850
    TVLIWENLDR PRDIVVEPMG GYMYWTDWGA SPKIERAGMD ASGRQVIISS 900
    NLTWPNGLAI DYGSQRLYWA DAGMKTIEFA GLDGSKRKVL IGSQLPHPFG 950
    LTLYGERIYW TDWQTKSIQS ADRLTGLDRE TLQENLENLM DIHVFHRRRP 1000
    PVSTPCAMEN GGCSHLCLRS PNPSGFSCTC PTGINLLSDG KTCSPGMNSF 1050
    LIFARRIDIR MVSLDIPYFA DVVVPINITM KNTIAIGVDP QEGKVYWSDS 1100
    TLHRISRANL DGSQHEDIIT TGLQTTDGLA VDAIGRKVYW TDTGTNRIEV 1150
    GNLDGSMRKV LVWQNLDSPR AIVLYHEMGF MYWTDWGENA KLERSGMDGS 1200
    DRAVLINNNL GWPNGLTVDK ASSQLLWADA HTERIEAADL NGANRHTLVS 1250
    PVQHPYGLTL LDSYIYWTDW QTRSIHRADK GTGSNVILVR SNLPGLMDMQ 1300
    AVDRAQPLGF NKCGSRNGGC SHLCLPRPSG FSCACPTGIQ LKGDGKTCDP 1350
    SPETYLLFSS RGSIRRISLD TSDHTDVHVP VPELNNVISL DYDSVDGKVY 1400
    YTDVFLDVIR RADLNGSNME TVIGRGLKTT DGLAVDWVAR NLYWTDTGRN 1450
    TIEASRLDGS CRKVLINNSL DEPRAIAVFP RKGYLFWTDW GHIAKIERAN 1500
    LDGSERKVLI NTDLGWPNGL TLDYDTRRIY WVDAHLDRIE SADLNGKLRQ 1550
    VLVSHVSHPF ALTQQDRWIY WTDWQTKSIQ RVDKYSGRNK ETVLANVEGL 1600
    MDIIVVSPQR QTGTNACGVN NGGCTHLCFA RASDFVCACP DEPDSRPCSL 1650
    VPGLVPPAPR ATGMSEKSPV LPNTPPTTLY SSTTRTRTSL EEVEGRCSER 1700
    DARLGLCARS NDAVPAAPGE GLHISYAIGG LLSILLILVV IAALMLYRHK 1750
    KSKFTDPGMG NLTYSNPSYR TSTQEVKIEA IPKPAMYNQL CYKKEGGPDH 1800
    NYTKEKIKIV EGICLLSGDD AEWDDLKQLR SSRGGLLRDH VCMKTDTVSI 1850
    QASSGSLDDT ETEQLLQEEQ SECSSVHTAA TPERRGSLPD TGWKHERKLS 1900
    SESQV 1905
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110218. 5 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 GC11M048796.
    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.
    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

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

    Gene expression databases

    ArrayExpressi O75096.
    Bgeei O75096.
    CleanExi HS_LRP4.
    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

    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: October 1, 2014
    This is version 128 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