MGP Database

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MGP000325

UniProt Annotations

Entry Information
Gene Namebone morphogenetic protein receptor, type IB
Protein EntryBMR1B_HUMAN
UniProt IDO00238
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00238-1; Sequence=Displayed; Name=2; IsoId=O00238-2; Sequence=VSP_045100;
Catalytic ActivityATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};
DiseaseAcromesomelic chondrodysplasia, with genital anomalies (AMDGA) [MIM:609441]: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). {ECO:0000269|PubMed:15805157}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseBrachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269|PubMed:14523231, ECO:0000269|PubMed:16957682}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionOn 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.
InteractionP12643:BMP2; NbExp=3; IntAct=EBI-7527193, EBI-1029262; P43026:GDF5; NbExp=6; IntAct=EBI-7527193, EBI-8571476;
SimilarityBelongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. {ECO:0000305}.
SimilarityContains 1 GS domain. {ECO:0000255|PROSITE- ProRule:PRU00585}.
SimilarityContains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule:PRU00159}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
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