{ "uniprot_canonical_ac": "O00238-1", "uniprot_ac": "O00238", "uniprot_id": "BMR1B_HUMAN", "mass": { "chemical_mass": 56930.0, "monoisotopic_mass": 56930.0 }, "refseq": { "ac": "NP_001194", "name": "bone morphogenetic protein receptor type-1B isoform b precursor", "summary": "This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194" }, "gene_names": [ { "name": "BMPR1B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00238", "id": "O00238" }, { "name": "ALK-6; ALK6; AMD3; AMDD; BDA1D; BDA2; CDw293", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194", "id": "NP_001194" }, { "name": "BMPR1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194", "id": "NP_001194" } ], "protein_names": [ { "name": "Bone morphogenetic protein receptor type-1B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00238" }, { "name": "2.7.11.30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00238" }, { "name": "BMP type-1B receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00238" }, { "name": "BMPR-1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00238" }, { "name": "bone morphogenetic protein receptor type-1B isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194", "id": "NP_001194" }, { "name": "serine/threonine receptor kinase; activin receptor-like kinase 6; BMPR-1B; BMP type-1B receptor; bone morphogenetic protein receptor, type IB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194", "id": "NP_001194" } ], "function": [ { "annotation": "BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194" }, { "database": "PubMed", "id": "32764110", "url": "https://glygen.org/publication/PubMed/32764110" } ] }, { "annotation": "BMPR1B Polymorphisms (rs1434536 and rs1970801) are Associated With Breast Cancer Susceptibility in Northwest Chinese Han Females: A Case-Control Study.", "evidence": [ { "database": "RefSeq", "id": "NP_001194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194" }, { "database": "PubMed", "id": "35501253", "url": "https://glygen.org/publication/PubMed/35501253" } ] }, { "annotation": "BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_001194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194" }, { "database": "PubMed", "id": "33486847", "url": "https://glygen.org/publication/PubMed/33486847" } ] }, { "annotation": "CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.", "evidence": [ { "database": "RefSeq", "id": "NP_001194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194" }, { "database": "PubMed", "id": "33215411", "url": "https://glygen.org/publication/PubMed/33215411" } ] }, { "annotation": "On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238#function" }, { "database": "UniProtKB", "id": "P36898", "url": "https://www.uniprot.org/uniprot/P36898#function" } ] }, { "annotation": "This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001194" } ] } ], "disease": [ { "disease_id": "DOID:0081237", "recommended_name": { "id": "DOID:0081237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081237", "name": "acromesomelic dysplasia-3", "description": "An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22." }, "synonyms": [ { "id": "DOID:0081237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081237", "name": "Demirhan-type acromesomelic dysplasia", "description": "" }, { "id": "MONDO:0012274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012274", "name": "acromesomelic dysplasia 3", "description": "" }, { "id": "MONDO:0012274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012274", "name": "AMDD", "description": "" }, { "id": "MONDO:0012274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012274", "name": "acromesomelic dysplasia 3", "description": "" }, { "id": "MONDO:0012274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012274", "name": "acromesomelic dysplasia, Demirhan type", "description": "" }, { "id": "MONDO:0012274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012274", "name": "chondrodysplasia, acromesomelic, with or without genital anomalies", "description": "" }, { "id": "MONDO:0012274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012274", "name": "chondrodysplasia acromesomelic with genital anomalies", "description": "" }, { "id": "MIM:609441", "resource": "MIM", "url": "https://www.omim.org/entry/609441", "name": "Acromesomelic dysplasia 3", "description": "Acromesomelic dysplasia 3" } ], "evidence": [ { "id": "609441", "database": "MIM", "url": "https://www.omim.org/entry/609441" } ] }, { "disease_id": "DOID:0110965", "recommended_name": { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12." }, "synonyms": [ { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "BDA2", "description": "" }, { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "Mohr-Wriedt type brachydactyly", "description": "" }, { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "brachymesophalangy II", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly type A2", "description": "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "BDA2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Mohr-Wriedt type brachydactyly", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly, Mohr-Wriedt type", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachymesophalangy II", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Brachymesophalangy 2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Brachymesophalangy type 2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly, type A2", "description": "" }, { "id": "MIM:112600", "resource": "MIM", "url": "https://www.omim.org/entry/112600", "name": "Brachydactyly A2", "description": "Brachydactyly A2" } ], "evidence": [ { "id": "112600", "database": "MIM", "url": "https://www.omim.org/entry/112600" } ] }, { "disease_id": "DOID:0110978", "recommended_name": { "id": "DOID:0110978", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110978", "name": "brachydactyly type A1D", "description": "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22." }, "synonyms": [ { "id": "DOID:0110978", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110978", "name": "BDA1D", "description": "" }, { "id": "MONDO:0014798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014798", "name": "brachydactyly type A1D", "description": "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene." }, { "id": "MONDO:0014798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014798", "name": "BDA1D", "description": "" }, { "id": "MONDO:0014798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014798", "name": "BMPR1B brachydactyly type A1", "description": "" }, { "id": "MONDO:0014798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014798", "name": "brachydactyly type A1 caused by mutation in BMPR1B", "description": "" }, { "id": "MONDO:0014798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014798", "name": "brachydactyly, type A1, D", "description": "" }, { "id": "MIM:616849", "resource": "MIM", "url": "https://www.omim.org/entry/616849", "name": "Brachydactyly A1, D", "description": "Brachydactyly A1, D" } ], "evidence": [ { "id": "616849", "database": "MIM", "url": "https://www.omim.org/entry/616849" } ] } ], "snv": [ { "evidence": [ { "id": "rs1386616728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386616728" }, { "id": "rs1386616728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386616728" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 109, "end_pos": 109, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "95115764", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752156962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752156962" }, { "id": "rs752156962", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752156962" }, { "id": "rs752156962", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752156962#frequency_tab" }, { "id": "rs752156962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752156962" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 166, "end_pos": 166, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "4", "chr_pos": "95125032", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180765631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180765631" }, { "id": "rs1180765631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1180765631#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 292, "end_pos": 292, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "4", "chr_pos": "95131312", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766046737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766046737" }, { "id": "rs766046737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766046737" }, { "id": "rs766046737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766046737" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 390, "end_pos": 390, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "4", "chr_pos": "95148840", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753253207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753253207" }, { "id": "rs753253207", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753253207" }, { "id": "rs753253207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753253207" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 392, "end_pos": 392, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHF->NHS).", "chr_id": "4", "chr_pos": "95148846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F392", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00238", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00238" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 488, "end_pos": 488, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "4", "chr_pos": "95154628", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K488", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": 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"https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": 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receptor type 1B OS=Homo sapiens OX=9606 GN=BMPR1B PE=1 SV=1 CANONICAL=O00238-1" }, "locus": { "chromosome": "4", "start_pos": 95123835, "end_pos": 95104425, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506363.5", "url": "https://www.ensembl.org/id/ENST00000506363.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421144.1", "url": "https://www.ensembl.org/id/ENSP00000421144.1" } ] } }, { "isoform_ac": "O00238-1", "url": "", "sequence": { "sequence": "MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEEDDSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVDGPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPASRLTALRVKKTLAKMSESQDIKL", "length": 502, "header": "sp|O00238-1|BMR1B_HUMAN Isoform 1 of Bone morphogenetic protein receptor type-1B OS=Homo sapiens OX=9606 GN=BMPR1B PE=1 SV=1 CANONICAL=O00238-1" }, "locus": { "chromosome": "4", "start_pos": 95154670, "end_pos": 95104425, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515059.6", "url": "https://www.ensembl.org/id/ENST00000515059.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000426617.1", "url": "https://www.ensembl.org/id/ENSP00000426617.1" } ] } }, { "isoform_ac": "O00238-2", "url": "", "sequence": { "sequence": "MGWLEELNWQLHIFLLILLSMHTRANFLDNMLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEEDDSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVDGPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPASRLTALRVKKTLAKMSESQDIKL", "length": 532, "header": "sp|O00238-2|BMR1B_HUMAN Isoform 2 of Bone morphogenetic protein receptor type-1B OS=Homo sapiens OX=9606 GN=BMPR1B PE=1 SV=1 CANONICAL=O00238-1" }, "locus": { "chromosome": "4", "start_pos": 95154670, "end_pos": 95051700, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440890.7", "url": "https://www.ensembl.org/id/ENST00000440890.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000401907.2", "url": "https://www.ensembl.org/id/ENSP00000401907.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "O00238", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O00238", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Chromosomal localization of three human genes encoding bone morphogenetic protein receptors.", "journal": "Mamm. Genome", "date": "1999", "authors": "Astr\u00f6m A K, Jin D, Imamura T, R\u00f6ijer E, Rosenzweig B, Miyazono K, ten Dijke P, Stenman G", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "reference": [ { "type": "PubMed", "id": "10051328", "url": "https://glygen.org/publication/PubMed/10051328" } ] }, { "title": "A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation.", "journal": "Nature", "date": "1999", "authors": "Zhu H, Kavsak P, Abdollah S, Wrana JL, Thomsen GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10458166", "url": "https://glygen.org/publication/PubMed/10458166" } ] }, { "title": "SMAD destruction turns off signalling.", "journal": "Nature cell biology", "date": "1999", "authors": "Heldin CH, ten Dijke P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10587654", "url": "https://glygen.org/publication/PubMed/10587654" } ] }, { "title": "Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Gilboa L, Nohe A, Geissendorfer T, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10712517", "url": "https://glygen.org/publication/PubMed/10712517" } ] }, { "title": "Smurf2 is a ubiquitin E3 ligase mediating proteasome-dependent degradation of Smad2 in transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin X, Liang M, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11016919", "url": "https://glygen.org/publication/PubMed/11016919" } ] }, { "title": "Ski represses bone morphogenic protein signaling in Xenopus and mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wang W, Mariani FV, Harland RM, Luo K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11121043", "url": "https://glygen.org/publication/PubMed/11121043" } ] }, { "title": "Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhang Y, Chang C, Gehling DJ, Hemmati-Brivanlou A, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11158580", "url": "https://glygen.org/publication/PubMed/11158580" } ] }, { "title": "Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ebisawa T, Fukuchi M, Murakami G, Chiba T, Tanaka K, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11278251", "url": "https://glygen.org/publication/PubMed/11278251" } ] }, { "title": "Nucleocytoplasmic shuttling of Smad1 conferred by its nuclear localization and nuclear export signals.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Xiao Z, Watson N, Rodriguez C, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11509558", "url": "https://glygen.org/publication/PubMed/11509558" } ] }, { "title": "Proteasomal degradation of Smad1 induced by bone morphogenetic proteins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gruendler C, Lin Y, Farley J, Wang T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11571290", "url": "https://glygen.org/publication/PubMed/11571290" } ] }, { "title": "The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nohe A, Hassel S, Ehrlich M, Neubauer F, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11714695", "url": "https://glygen.org/publication/PubMed/11714695" } ] }, { "title": "Structural basis of Smad1 activation by receptor kinase phosphorylation.", "journal": "Molecular cell", "date": "2001", "authors": "Qin BY, Chacko BM, Lam SS, de Caestecker MP, Correia JJ, Lin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11779505", "url": "https://glygen.org/publication/PubMed/11779505" } ] }, { "title": "Smurf1 regulates the inhibitory activity of Smad7 by targeting Smad7 to the plasma membrane.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Suzuki C, Murakami G, Fukuchi M, Shimanuki T, Shikauchi Y, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12151385", "url": "https://glygen.org/publication/PubMed/12151385" } ] }, { "title": "Chromosomal region maintenance 1 (CRM1)-dependent nuclear export of Smad ubiquitin regulatory factor 1 (Smurf1) is essential for negative regulation of transforming growth factor-beta signaling by Smad7.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tajima Y, Goto K, Yoshida M, Shinomiya K, Sekimoto T, Yoneda Y, Miyazono K, Imamura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12519765", "url": "https://glygen.org/publication/PubMed/12519765" } ] }, { "title": "An extended bipartite nuclear localization signal in Smad4 is required for its nuclear import and transcriptional activity.", "journal": "Oncogene", "date": "2003", "authors": "Xiao Z, Latek R, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12592392", "url": "https://glygen.org/publication/PubMed/12592392" } ] }, { "title": "A novel nuclear export signal in Smad1 is essential for its signaling activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Xiao Z, Brownawell AM, Macara IG, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12821673", "url": "https://glygen.org/publication/PubMed/12821673" } ] }, { "title": "Cooperative inhibition of bone morphogenetic protein signaling by Smurf1 and inhibitory Smads.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Murakami G, Watabe T, Takaoka K, Miyazono K, Imamura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12857866", "url": "https://glygen.org/publication/PubMed/12857866" } ] }, { "title": "Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "reference": [ { "type": "PubMed", "id": "14523231", "url": "https://glygen.org/publication/PubMed/14523231" } ] }, { "title": "A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.", "journal": "J. 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"O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902043", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "central nervous system neuron differentiation", "id": "GO:0021953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021953", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "ovarian cumulus expansion", "id": "GO:0001550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001550", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "chondrocyte development", "id": "GO:0002063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002063", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "proteoglycan biosynthetic process", "id": "GO:0030166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030166", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "ovulation cycle", "id": "GO:0042698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042698", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "endochondral bone morphogenesis", "id": "GO:0060350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060350", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte proliferation", "id": "GO:1902731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902731", "evidence": [ { "database": "UniProtKB", "id": "O00238", "url": "https://www.uniprot.org/uniprot/O00238" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 284, "end_pos": 286, "annotation": "n_glycosylation_sequon" }, { "start_pos": 343, "end_pos": 345, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "18673", "name": "", "equation": "ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L-seryl-[receptor-protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38445-1", "P80202-1", "Q78EA7-1", "P80201-1", "P70539-1", "P80203-1", "Q62893-1", "P38444-1", "P38438-1", "P80204-1", "F1LQC5-1", "A0A8I5ZJI2-1", "P36897-1", "P36894-1", "Q13873-1", "Q13705-1", "P37023-1", "Q8NER5-1", "P36896-1", "Q16671-1", "Q04771-1", "O00238-1", "P27037-1", "P37173-1", "Q8K348-1", "Q61288-1", "Q8K592-1", "Q61271-1", "P37172-1", "P27040-1", "P36895-1", "O35607-1", "P36898-1", "P27038-1", "Q62312-2", "Q64729-1" ], "evidence": [ { "id": "18673", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18673" } ] }, { "id": "44880", "name": "", "equation": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38445-1", "P80201-1", "P80202-1", "Q78EA7-1", "P70539-1", "P80203-1", "Q62893-1", "P38444-1", "P38438-1", "P80204-1", "F1LQC5-1", "A0A8I5ZJI2-1", "P36897-1", "P36894-1", "Q13873-1", "Q13705-1", "P37023-1", "Q8NER5-1", "P36896-1", "Q16671-1", "Q04771-1", "O00238-1", "P27037-1", "P37173-1", "Q8K348-1", "Q61288-1", "Q8K592-1", "P37172-1", "Q61271-1", "P27040-1", "P36895-1", "O35607-1", "P36898-1", "P27038-1", "Q62312-2", "Q64729-1", "A0A0B4KG59-1" ], "evidence": [ { "id": "44880", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/44880" } ] }, { "id": "R-HSA-201443", "name": "Type II receptor phosphorylates type I receptor", "equation": "", "summary": "Formation of the hetero-tetrameric BMP2:receptor complex induces receptor rotation, so that their cytoplasmic kinase domains face each other in a catalytically favourable configuration. The constitutively active type II receptor kinase (which auto-phosphorylates in the absence of ligand), trans-phosphorylates specific serine residues at the conserved Gly-Ser-rich juxtapositioned domain of the type I receptor. It is not known if exactly 8 ATPs are required for the phosphorylation of type I receptor, there could be more or less than this number.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201443", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201443" } ] }, { "id": "R-HSA-201453", "name": "Phospho-R-Smad1/5/8 dissociates from the receptor complex", "equation": "", "summary": "Upon phosphorylation of the R-SMAD (SMAD2/3), the conformation of the C-terminal (MH2) domain of the R-SMAD changes, lowering its affinity for the type I receptor and ZFYVE9 (SARA). As a result, the phosphorylated R-SMAD dissociates from the activated receptor complex (TGFBR).", "cellular_location": "early endosome", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201453", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201453" } ] }, { "id": "R-HSA-201457", "name": "BMP2 binds to the receptor complex", "equation": "", "summary": "The mature dimeric BMP2 binds with high affinity to its signalling receptor, the type II receptor serine/threonine kinase. The type II receptor is known to form dimeric complexes even in the absence of BMP2 (Rosenzweig et al.1995). Also, TGFBR3 (Betaglycan) antagonises BMP2 signalling by binding with ACVR2A (ActRII). TGFBR3 and BMP2 compete for ACVR2A and TGFBR3 thus inhibits BMP2 signalling (Waiter et al. 2003).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201457", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201457" } ] }, { "id": "R-HSA-201475", "name": "I-Smad competes with R-Smad1/5/8 for type I receptor", "equation": "", "summary": "I-SMADs reside in the nucleus presumably to be sequestered from the BMP2:receptor complex and thus avoid inappropriate silencing of the signalling pathway. Upon activation of the signalling pathway, I-SMADs exit the nucleus and are recruited to the signalling BMP2:receptor complex. I-SMADs directly bind to the so-called L45 loop of the type I receptor, the site of binding of R-SMADs. Thus, I-SMADs competitively inhibit the activation/phosphorylation of R-SMADs.", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201475", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201475" } ] }, { "id": "R-HSA-201476", "name": "Activated type I receptor phosphorylates R-Smad1/5/8 directly", "equation": "", "summary": "Activated type I receptor kinase directly phosphorylates two of the C-terminal serine residues of SMAD1, SMAD5 or SMAD8. Binding of these R-SMADs to the L45 loop of the type I receptor is critical for this event.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201476", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201476" } ] }, { "id": "R-HSA-201648", "name": "An anchoring protein, Endofin, recruits R-Smad1/5/8", "equation": "", "summary": "Endofin is a FYVE domain-containing protein that strongly resembles SARA, the Smad anchor for receptor activation that facilitates TGF-beta signalling. Endofin acts in a similar manner as SARA, it binds to BMP-specific R-Smads, it localizes in early endosomes and it facilitates their phosphorylation, thus promoting signal transduction by the BMP receptors. However, it should be noted that endofin has also been reported to bind to the Co-Smad, Smad4, and to the TGF-beta type receptor, thus enhancing TGF-beta signalling. Since Smad4 is a common Smad that operates in the BMP-specific pathways, the latter observation might imply that endofin could regulate both TGF-beta and BMP signalling, a hypothesis still open for investigation.", "cellular_location": "cytosol, early endosome membrane, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201648", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201648" } ] }, { "id": "R-HSA-201821", "name": "I-Smad binds to type I receptor, preventing Smad1/5/8 from being activated", "equation": "", "summary": "Smad6 and Smad7, the two I-Smads, bind directly to the BMP type I receptors and recruit the ubiquitin ligase Smurf1. This reaction leads to competitive inhibition of R-Smad binding to the type I receptor and activating phosphorylation by the receptor, and also leads to BMP receptor ubiquitination and degradation.", "cellular_location": "cytoplasmic side of plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9HAU4-1", "Q9HCE7-1", "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-201821", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201821" } ] }, { "id": "R-HSA-202604", "name": "Formation of a heteromeric BMP receptor complex", "equation": "", "summary": "BMP receptors, unlike TGF-beta receptors are known to form hetero-oligomeric complexes in the endoplasmic reticulum and are transported as oligomers to the plasma membrane where they bind ligand. However, evidence for ligand-induced heteromeric BMP receptor complexes on the cell surface has; also been published, leading to a model where both pre-formed and ligand-induced receptor oligomers are encountered on the plasma membrane. Based on the latter, a theory has been formulated that suggests that the signaling outcome from pre-formed and ligand-induced BMP receptor complexes is different. The mechanism that might explain this theory must involve different ways of internalization and trafficking of the BMP receptor complexes.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13705-1", "O00238-1", "P36894-1", "P27037-1", "Q13873-1" ], "evidence": [ { "id": "R-HSA-202604", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202604" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0B4KG59", "gene_name": "put", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "A0A0B4KG59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0B4KG59" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "A0A0B4KG59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0B4KG59" } ] } ] }, { "uniprot_ac": "A0A8I5ZJI2", "gene_name": "Bmpr1b", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "A0A8I5ZJI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZJI2" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "A0A8I5ZJI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZJI2" } ] } ] }, { "uniprot_ac": "F1LQC5", "gene_name": "Bmpr2", "activity": [ { "ec_number": "2.7.11.30", "activity": "ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein].", "evidence": [ { "id": "F1LQC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LQC5" } ] }, { "ec_number": "2.7.11.30", "activity": "", "evidence": [ { "id": "F1LQC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LQC5" } ] } ] }, { "uniprot_ac": "O00238", "gene_name": 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