Tag | Content |
---|---|
Uniprot ID | O00238; B2R953; B4DSV1; P78366; |
Entrez ID | 658 |
Genbank protein ID | AAH69796.1; BAG36400.1; BAA19765.1; AAH69803.1; EAX06060.1; AAC28131.1; AAH47773.1; BAG61763.1; |
Genbank nucleotide ID | NM_001256793.1; NM_001256794.1; XM_011532201.2; XM_017008559.1; NM_001203.2; XM_017008560.1; XM_017008558.1; NM_001256792.1; XM_017008561.1; |
Ensembl protein ID | ENSP00000421671; ENSP00000426617; ENSP00000264568; ENSP00000425444; ENSP00000401907; ENSP00000500035; ENSP00000378389; |
Ensembl nucleotide ID | ENSG00000138696 |
Gene name | Bone morphogenetic protein receptor type-1B |
Gene symbol | BMPR1B |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Manually collected |
Reference | 14755461 |
Functional description | 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. |
Sequence | MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED 60 DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD 120 GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI 180 EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS 240 WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS 300 MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD 360 TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV 420 EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS 480 RLTALRVKKT LAKMSESQDI KL 502 |
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.