| Tag | Content |
|---|---|
| Uniprot ID | Q8VI56; A2AGT4; Q8BPX5; Q8CBB3; Q8CCP5; |
| Entrez ID | 228357 |
| Genbank protein ID | BAC29416.1; BAC27835.1; BAC98034.1; AAL36970.1; AAI32241.1; |
| Genbank nucleotide ID | NM_001145857.1; NM_172668.3; |
| Ensembl protein ID | ENSMUSP00000028689 |
| Ensembl nucleotide ID | ENSMUSG00000027253 |
| Gene name | Low-density lipoprotein receptor-related protein 4 |
| Gene symbol | Lrp4 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 30235284 |
| Functional description | 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. Plays an essential role in the process of digit differentiation (PubMed:16517118). |
| Sequence | MRRWWGALLL GALLCAHGIA SSLECACGRS HFTCAVSALG ECTCIPAQWQ CDGDNDCGDH 60 SDEDGCTLPT CSPLDFHCDN GKCIRRSWVC DGDNDCEDDS DEQDCPPREC EEDEFPCQNG 120 YCIRSLWHCD GDNDCGDNSD EQCDMRKCSD KEFRCSDGSC IAEHWYCDGD TDCKDGSDEE 180 SCPSAVPSPP CNLEEFQCAY GRCILDIYHC DGDDDCGDWS DESDCSSHQP CRSGEFMCDS 240 GLCINSGWRC DGDADCDDQS DERNCTTSMC TAEQFRCRSG RCVRLSWRCD GEDDCADNSD 300 EENCENTGSP QCASDQFLCW NGRCIGQRKL CNGINDCGDS SDESPQQNCR PRTGEENCNV 360 NNGGCAQKCQ MVRGAVQCTC HTGYRLTEDG RTCQDVNECA EEGYCSQGCT NTEGAFQCWC 420 EAGYELRPDR RSCKALGPEP VLLFANRIDI RQVLPHRSEY TLLLNNLENA IALDFHHRRE 480 LVFWSDVTLD RILRANLNGS NVEEVVSTGL ESPGGLAVDW VHDKLYWTDS GTSRIEVANL 540 DGAHRKVLLW QSLEKPRAIA LHPMEGTIYW TDWGNTPRIE ASSMDGSGRR IIADTHLFWP 600 NGLTIDYAGR RMYWVDAKHH VIERANLDGS HRKAVISQGL PHPFAITVFE DSLYWTDWHT 660 KSINSANKFT GKNQEIIRNK LHFPMDIHTL HPQRQPAGKN RCGDNNGGCT HLCLPSGQNY 720 TCACPTGFRK INSHACAQSL DKFLLFARRM DIRRISFDTE DLSDDVIPLA DVRSAVALDW 780 DSRDDHVYWT DVSTDTISRA KWDGTGQEVV VDTSLESPAG LAIDWVTNKL YWTDAGTDRI 840 EVANTDGSMR TVLIWENLDR PRDIVVEPMG GYMYWTDWGA SPKIERAGMD ASSRQVIISS 900 NLTWPNGLAI DYGSQRLYWA DAGMKTIEFA GLDGSKRKVL IGSQLPHPFG LTLYGQRIYW 960 TDWQTKSIQS ADRLTGLDRE TLQENLENLM DIHVFHRQRP PVTTLCAVEN GGCSHLCLRS 1020 PNPSGFSCTC PTGINLLRDG KTCSPGMNSF LIFARRIDVR MVSLDIPYFA DVVVPINMTM 1080 KNTIAIGVDP LEGKVYWSDS TLHRISRASL DGSQHEDIIT TGLQTTDGLA VDAIGRKVYW 1140 TDTGTNRIEV GNLDGSMRKV LVWQNLDSPR AIVLYHEMGF MYWTDWGENA KLERSGMDGS 1200 DRTVLINNNL GWPNGLTVDK TSSQLLWADA HTERIEVADL NGANRHTLVS PVQHPYGLTL 1260 LDSYIYWTDW QTRSIHRADK STGSNVILVR SNLPGLMDIQ AVDRAQPLGF NKCGSRNGGC 1320 SHLCLPRPSG FSCACPTGIQ LKGDRKTCDP SPETYLLFSS RGSIRRISLD TDDHTDVHVP 1380 VPGLNNVISL DYDSVHGKVY YTDVFLDVIR RADLNGSNME TVIGHGLKTT DGLAVDWVAR 1440 NLYWTDTGRN TIEASRLDGS CRKVLINNSL DEPRAIAVFP RKGYLFWTDW GHIAKIERAN 1500 LDGSERKVLI NTDLGWPNGL TLDYDTRRIY WVDAHLDRIE SADLNGKLRQ VLVSHVSHPF 1560 ALTQQDRWIY WTDWQTKSIQ RVDKYSGRNK ETVLANVEGL MDIIVVSPQR QTGTNACGVN 1620 NGGCTHLCFA RASDFVCACP DEPDGHPCSL VPGLVPPAPR ATSMNEKSPV LPNTLPTTLH 1680 SSTTKTRTSL EGAGGRCSER DAQLGLCAHS NEAVPAAPGE GLHVSYAIGG LLSILLILLV 1740 IAALMLYRHR KSKFTDPGMG NLTYSNPSYR TSTQEVKLEA APKPAVYNQL CYKKEGGPDH 1800 SYTKEKIKIV EGIRLLAGDD AEWGDLKQLR SSRGGLLRDH VCMKTDTVSI QASSGSLDDT 1860 ETEQLLQEEQ SECSSVHTAA TPERRGSLPD TGWKHERKLS SESQV 1905 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | LRP4 | 483628 | J9P7Q4 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | LRP4 | A0A452FZF0 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | LRP4 | 4038 | O75096 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Lrp4 | 228357 | Q8VI56 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | LRP4 | A0A2I3TEP4 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Lrp4 | Q9QYP1 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005509 | calcium ion binding | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0030971 | receptor tyrosine kinase binding | ISO |
| GO:0030971 | receptor tyrosine kinase binding | IPI |
| GO:0034185 | apolipoprotein binding | ISO |
| GO:0042803 | protein homodimerization activity | IDA |
| GO:0097110 | scaffold protein binding | ISS |
| GO:0097110 | scaffold protein binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001822 | kidney development | ISO |
| GO:0001822 | kidney development | IMP |
| GO:0001932 | regulation of protein phosphorylation | IMP |
| GO:0001942 | hair follicle development | IMP |
| GO:0006897 | endocytosis | IEA |
| GO:0008104 | protein localization | IMP |
| GO:0009953 | dorsal/ventral pattern formation | IMP |
| GO:0009954 | proximal/distal pattern formation | IMP |
| GO:0016055 | Wnt signaling pathway | IDA |
| GO:0030279 | negative regulation of ossification | ISO |
| GO:0030326 | embryonic limb morphogenesis | IMP |
| GO:0042475 | odontogenesis of dentin-containing tooth | IMP |
| GO:0042733 | embryonic digit morphogenesis | IMP |
| GO:0043113 | receptor clustering | IMP |
| GO:0048813 | dendrite morphogenesis | ISS |
| GO:0048813 | dendrite morphogenesis | ISO |
| GO:0048856 | anatomical structure development | IMP |
| GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | IMP |
| GO:0050771 | negative regulation of axonogenesis | IMP |
| GO:0050808 | synapse organization | ISS |
| GO:0050808 | synapse organization | ISO |
| GO:0051124 | synaptic growth at neuromuscular junction | IMP |
| GO:0051124 | synaptic growth at neuromuscular junction | IDA |
| GO:0051290 | protein heterotetramerization | ISO |
| GO:0060173 | limb development | ISO |
| GO:0071340 | skeletal muscle acetylcholine-gated channel clustering | IMP |
| GO:0090090 | negative regulation of canonical Wnt signaling pathway | ISO |
| GO:0090090 | negative regulation of canonical Wnt signaling pathway | IDA |
| GO:0090090 | negative regulation of canonical Wnt signaling pathway | IGI |
| GO:0097104 | postsynaptic membrane assembly | IMP |
| GO:0097105 | presynaptic membrane assembly | IMP |
| GO:0150094 | amyloid-beta clearance by cellular catabolic process | ISO |
| GO:1901631 | positive regulation of presynaptic membrane organization | IDA |
| GO:1904395 | positive regulation of skeletal muscle acetylcholine-gated channel clustering | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005886 | plasma membrane | IDA |
| GO:0009986 | cell surface | ISS |
| GO:0009986 | cell surface | ISO |
| GO:0014069 | postsynaptic density | ISS |
| GO:0014069 | postsynaptic density | ISO |
| GO:0016021 | integral component of membrane | IEA |
| GO:0030425 | dendrite | ISS |
| GO:0030425 | dendrite | ISO |
| GO:0031594 | neuromuscular junction | IDA |
| GO:0031594 | neuromuscular junction | IC |
| GO:0043025 | neuronal cell body | ISS |
| GO:0043025 | neuronal cell body | ISO |
| GO:0044853 | plasma membrane raft | ISS |
| GO:0044853 | plasma membrane raft | ISO |
| GO:0097060 | synaptic membrane | ISS |
| GO:0097060 | synaptic membrane | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0106 | Calcium |
| KW-1003 | Cell membrane |
| KW-0217 | Developmental protein |
| KW-0221 | Differentiation |
| KW-1015 | Disulfide bond |
| KW-0245 | EGF-like domain |
| KW-0254 | Endocytosis |
| KW-0325 | Glycoprotein |
| KW-0472 | Membrane |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0732 | Signal |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0879 | Wnt signaling pathway |
| InterPro ID | InterPro Term |
|---|---|
| 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 |