BMPR1A
entrez
657
canonical
uniprot
P36894
canonical
ensembl
ENSG00000107779
resolver
ensp
ENSP00000361107
resolver
ensp
ENSP00000483569
resolver
ensp
ENSP00000489707
resolver
ensp
ENSP00000490273
resolver
ensp
ENSP00000492290
resolver
ensp
ENSP00000518974
resolver
ensp
ENSP00000518975
resolver
ensp
ENSP00000518977
resolver
ensp
ENSP00000553555
resolver
ensp
ENSP00000553556
resolver
ensp
ENSP00000553557
resolver
ensp
ENSP00000553558
resolver
ensp
ENSP00000553559
resolver
ensp
ENSP00000553560
resolver
ensp
ENSP00000553561
resolver
ensp
ENSP00000553562
resolver
ensp
ENSP00000596342
resolver
ensp
ENSP00000596343
resolver
ensp
ENSP00000596344
resolver
ensp
ENSP00000596345
resolver
ensp
ENSP00000596346
resolver
ensp
ENSP00000596347
resolver
ensp
ENSP00000596348
resolver
ensp
ENSP00000596350
resolver
ensp
ENSP00000596351
resolver
ensp
ENSP00000596352
resolver
ensp
ENSP00000613146
resolver
ensp
ENSP00000613147
resolver
ensp
ENSP00000613148
resolver
ensp
ENSP00000613149
resolver
ensp
ENSP00000613150
resolver
ensp
ENSP00000613151
resolver
ensp
ENSP00000613152
resolver
ensp
ENSP00000613153
resolver
ensp
ENSP00000613154
resolver
ensp
ENSP00000613155
resolver
enst
ENST00000372037
resolver
enst
ENST00000480152
resolver
enst
ENST00000635816
resolver
enst
ENST00000636056
resolver
enst
ENST00000638429
resolver
enst
ENST00000713672
resolver
enst
ENST00000713675
resolver
enst
ENST00000883496
resolver
enst
ENST00000883497
resolver
enst
ENST00000883498
resolver
enst
ENST00000883499
resolver
enst
ENST00000883500
resolver
enst
ENST00000883501
resolver
enst
ENST00000883502
resolver
enst
ENST00000883503
resolver
enst
ENST00000926283
resolver
enst
ENST00000926284
resolver
enst
ENST00000926285
resolver
enst
ENST00000926287
resolver
enst
ENST00000926288
resolver
enst
ENST00000926289
resolver
enst
ENST00000926291
resolver
enst
ENST00000926292
resolver
enst
ENST00000926293
resolver
enst
ENST00000943087
resolver
enst
ENST00000943088
resolver
enst
ENST00000943089
resolver
enst
ENST00000943090
resolver
enst
ENST00000943091
resolver
enst
ENST00000943092
resolver
enst
ENST00000943093
resolver
enst
ENST00000943094
resolver
enst
ENST00000943095
resolver
enst
ENST00000943096
resolver
genesymbol
BMPR1A
resolver
genesymbol_syn
ACVRLK3
resolver
genesymbol_syn
ALK3
resolver
hgnc
HGNC:1076
resolver
uniprot
A8K6U9
resolver
uniprot
Q8NEN8
resolver
uniprot_entry
BMR1A_HUMAN
resolver
uniprot_sec
A8K6U9
resolver
uniprot_sec
Q8NEN8
resolver
amino_acid_sequence
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI
uniprot
proteins
disease_involvement
DISEASE: Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. {ECO:0000269|PubMed:11536076, ECO:0000269|PubMed:12136244, ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:12630959}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. {ECO:0000269|PubMed:16525031}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome. {ECO:0000269|PubMed:11381269, ECO:0000269|PubMed:16525031}.
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 BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. May promote the expression of HAMP, potentially via its interaction with BMP2 (By similarity). {ECO:0000250|UniProtKB:P36895}.
uniprot
proteins
mass_dalton
60198
uniprot
proteins
mutagenesis
MUTAGEN 107..109; /note="DFQ->REL: Affinity for BMP2 decreased by over 200-fold."; /evidence="ECO:0000269|PubMed:22799562
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:P36895}.; PTM: Ubiquitinated by the complex made of the adapter SMAD6 and the E3 ligase SMURF1, leading to proteasomal degradation. {ECO:0000269|PubMed:28847510}.
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
10881198
uniprot
proteins
pubmed
11381269
uniprot
proteins
pubmed
11536076
uniprot
proteins
pubmed
12136244
uniprot
proteins
pubmed
12417513
uniprot
proteins
pubmed
12630959
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15064755
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16525031
uniprot
proteins
pubmed
16685657
uniprot
proteins
pubmed
17295905
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18937504
uniprot
proteins
pubmed
19726563
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
22799562
uniprot
proteins
pubmed
24098149
uniprot
proteins
pubmed
25860647
uniprot
proteins
pubmed
28847510
uniprot
proteins
pubmed
31800957
uniprot
proteins
pubmed
33308444
uniprot
proteins
pubmed
8006002
uniprot
proteins
pubmed
8397373
uniprot
proteins
sequence_length
532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19726563}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000250|UniProtKB:P36895}.
uniprot
proteins
transmembrane_region
TRANSMEM 153..176; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins