Gene: BMPR1B

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)