|BMR1B_HUMAN » Bone morphogenetic protein receptor type-1B » BMP type-1B receptor; BMPR-1B;|
|Hydrophobic Thickness||33.8 ± 1.4 Å|
|Tilt Angle||1 ± 3°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB|
|TM Segments||127-149 (122-151)|
Hippo signaling pathway (KEGG)
Signal Transduction (Reactome)
TGF-beta signaling pathway (KEGG)
|UniProt annotation for BMR1B_HUMAN » Bone morphogenetic protein receptor type-1B|
|FUNCTION: 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 (By similarity). CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. SUBUNIT: Interacts with high affinity with GDF5; positively regulates chondrocyte differentiation. DISEASE: Acromesomelic chondrodysplasia, with genital anomalies (AMDGA) OMIM: 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). mutations affecting the gene represented in this entry. DISEASE: Brachydactyly A2 (BDA2) OMIM: 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. mutations affecting the gene represented in this entry.|
|UniProt features for BMR1B_HUMAN » Bone morphogenetic protein receptor type-1B|
SIGNAL 1 13 Potential. |
CHAIN 14 502 Bone morphogenetic protein receptor type- 1B.
DOMAIN 174 203 GS.
DOMAIN 204 494 Protein kinase.
ACT_SITE 332 332 Proton acceptor (By similarity).
DISULFID 32 53 By similarity.
DISULFID 34 38 By similarity.
DISULFID 47 71 By similarity.
DISULFID 81 95 By similarity.
DISULFID 96 102 By similarity.
|Amino Acid Sequence for BMR1B_HUMAN » Bone morphogenetic protein receptor type-1B|
|MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS RLTALRVKKT LAKMSESQDI KL|