BMPR1B
entrez
658
canonical
uniprot
O00238
canonical
ensembl
ENSG00000138696
resolver
ensp
ENSP00000264568
resolver
ensp
ENSP00000401907
resolver
ensp
ENSP00000421671
resolver
ensp
ENSP00000425444
resolver
ensp
ENSP00000426617
resolver
ensp
ENSP00000543572
resolver
ensp
ENSP00000543574
resolver
genesymbol
BMPR1B
resolver
hgnc
HGNC:1077
resolver
uniprot
A8KAE3
resolver
uniprot
B2R953
resolver
uniprot
B4DSV1
resolver
uniprot
P78366
resolver
uniprot_entry
A8KAE3_HUMAN
resolver
uniprot_entry
BMR1B_HUMAN
resolver
uniprot_sec
B2R953
resolver
uniprot_sec
B4DSV1
resolver
uniprot_sec
P78366
resolver
amino_acid_sequence
MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEEDDSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVDGPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPASRLTALRVKKTLAKMSESQDIKL
uniprot
proteins
disease_involvement
DISEASE: Acromesomelic dysplasia 3 (AMD3) [MIM:609441]: A form of acromesomelic dysplasia, a skeletal disorder 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). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones. {ECO:0000269|PubMed:15805157, ECO:0000269|PubMed:24129431, ECO:0000269|PubMed:26105076}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brachydactyly 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 variants affecting the gene represented in this entry.; DISEASE: Brachydactyly A1, D (BDA1D) [MIM:616849]: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant. {ECO:0000269|PubMed:25758993}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.30
uniprot
proteins
function
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. {ECO:0000250|UniProtKB:P36898}.
uniprot
proteins
mass_dalton
56930
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated. {ECO:0000250|UniProtKB:P36898}.
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
TGFB receptor subfamily
uniprot
proteins
protein_family
TKL Ser/Thr protein kinase family
uniprot
proteins
pubmed
10051328
uniprot
proteins
pubmed
14523231
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15805157
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16957682
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
19726563
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
24098149
uniprot
proteins
pubmed
24129431
uniprot
proteins
pubmed
25758993
uniprot
proteins
pubmed
26105076
uniprot
proteins
pubmed
33308444
uniprot
proteins
pubmed
9178898
uniprot
proteins
sequence_length
502
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19726563}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 127..148; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins