Free for academic non-profit institutions. Other users need a Commercial license
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) is a Protein Coding gene. Diseases associated with BMPR1A include Polyposis Syndrome, Hereditary Mixed, 2 and Juvenile Polyposis Syndrome. Among its related pathways are Signaling by GPCR and Heart Development. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is BMPR1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IDA | 12065756 |
GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005901 | colocalizes_with caveola | IMP | 15657086 |
GO:0009897 | external side of plasma membrane | IDA | 24904118 |
GO:0009986 | cell surface | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Pathway |
.39
|
|
2 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
4 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
|
TOB in Osteoblast Signaling
.01
|
5 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001707 | mesoderm formation | IEA | -- |
GO:0001756 | somitogenesis | IEA | -- |
GO:0001880 | Mullerian duct regression | IEA | -- |
GO:0002053 | positive regulation of mesenchymal cell proliferation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dibotermin alfa | Approved, Investigational | Pharma | Target, ligand | 0 | ||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Manganese | Approved | Nutra | 56 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
DMH-1 | Pharma | Selective BMP ALK2 receptor, Selective ALK2 inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
DMH-1 | Selective BMP ALK2 receptor | 1206711-16-1 |
LDN-193189 | ALK inhibitor,potent and selective | 1062368-24-4 |
LDN-212854 | BMP receptor inhibitor,potent and selective | 1432597-26-6 |
ML347 | BMP receptor inhibitor,potent and selective | 1062368-49-3 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BMPR1A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BMPR-IA 31 |
|
OneToOne | |
BMPR1A 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BMPR1A 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BMPR1A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bmpr1a 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BMPR1A 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bmpr1a 30 |
|
||
Chicken (Gallus gallus) |
Aves | BMPR1A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BMPR1A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmpr1a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bmpr1aa 31 |
|
OneToMany | |
bmpr1ab 31 |
|
OneToMany | |||
bmpr1a 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | babo 32 |
|
|
|
tkv 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | daf-1 32 |
|
|
|
sma-6 32 |
|
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640281 | Uncertain Significance: Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome | 86,890,162(+) | G/C | MISSENSE_VARIANT | |
640551 | Uncertain Significance: Juvenile polyposis syndrome | 86,900,059(+) | G/T | MISSENSE_VARIANT | |
640801 | Uncertain Significance: Juvenile polyposis syndrome | 86,890,086(+) | A/C | MISSENSE_VARIANT | |
640806 | Uncertain Significance: Juvenile polyposis syndrome | 86,919,421(+) | A/G | MISSENSE_VARIANT | |
640914 | Uncertain Significance: Juvenile polyposis syndrome | 86,923,486(+) | A/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv267e212 | CNV | loss | 25503493 |
dgv491n106 | CNV | deletion | 24896259 |
esv1482533 | CNV | insertion | 17803354 |
esv2249804 | CNV | deletion | 18987734 |
esv22608 | CNV | loss | 19812545 |
esv2566276 | CNV | deletion | 19546169 |
esv2759774 | CNV | gain+loss | 17122850 |
esv2811 | CNV | loss | 18987735 |
esv33714 | CNV | loss | 17666407 |
esv3391392 | CNV | insertion | 20981092 |
esv3546621 | CNV | deletion | 23714750 |
esv3546624 | CNV | deletion | 23714750 |
esv3579036 | CNV | loss | 25503493 |
esv3579037 | CNV | loss | 25503493 |
esv9067 | CNV | loss | 19470904 |
nsv1141879 | OTHER | inversion | 24896259 |
nsv428236 | CNV | loss | 18775914 |
nsv478432 | CNV | novel sequence insertion | 20440878 |
nsv517487 | CNV | gain+loss | 19592680 |
nsv551795 | CNV | gain | 21841781 |
nsv7481 | CNV | deletion | 18451855 |
nsv7482 | CNV | insertion | 18451855 |
nsv958319 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polyposis syndrome, hereditary mixed, 2 |
|
|
juvenile polyposis syndrome |
|
|
generalized juvenile polyposis/juvenile polyposis coli |
|
|
juvenile polyposis of infancy |
|
|
hereditary mixed polyposis syndrome |
|
|