BMPR1A - bone morphogenetic protein receptor type 1A Gene
Also Known as ALK3; SKR5; ALK-3; CD292; ACVRLK3; BMPR-1A; 10q23del
Species: Homo sapiens
About BMPR1A
This gene has 5 transcripts (splice variants), 221 orthologues, 11 paralogues and is associated with 83 phenotypes. Ubiquitous expression in thyroid (RPKM 14.8), endometrium (RPKM 10.0) and 23 other tissues.
Summary
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 Products (42)
| mRNA | Protein | Name |
|---|---|---|
| XM_011540103.3 | XP_011538405.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NM_001406574.1 | NP_001393503.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| XM_047425678.1 | XP_047281634.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NM_001406589.1 | NP_001393518.1 | bone morphogenetic protein receptor type-1A isoform 6 |
| NM_001406588.1 | NP_001393517.1 | bone morphogenetic protein receptor type-1A isoform 5 |
| NM_001406559.1 | NP_001393488.1 | bone morphogenetic protein receptor type-1A isoform 1 |
| XM_047425677.1 | XP_047281633.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NM_001406580.1 | NP_001393509.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406579.1 | NP_001393508.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406570.1 | NP_001393499.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406564.1 | NP_001393493.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406566.1 | NP_001393495.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406575.1 | NP_001393504.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406567.1 | NP_001393496.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406562.1 | NP_001393491.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406565.1 | NP_001393494.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NR_176211.1 | ||
| XM_047425679.1 | XP_047281635.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NM_001406584.1 | NP_001393513.1 | bone morphogenetic protein receptor type-1A isoform 5 |
| XM_047425680.1 | XP_047281636.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NM_001406578.1 | NP_001393507.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406586.1 | NP_001393515.1 | bone morphogenetic protein receptor type-1A isoform 5 |
| XM_047425676.1 | XP_047281632.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NR_176213.1 | ||
| NM_001406581.1 | NP_001393510.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_004329.3 | NP_004320.2 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406576.1 | NP_001393505.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406561.1 | NP_001393490.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406568.1 | NP_001393497.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406560.1 | NP_001393489.1 | bone morphogenetic protein receptor type-1A isoform 2 |
| NM_001406587.1 | NP_001393516.1 | bone morphogenetic protein receptor type-1A isoform 5 |
| XM_011540104.3 | XP_011538406.1 | bone morphogenetic protein receptor type-1A isoform X1 |
| NM_001406583.1 | NP_001393512.1 | bone morphogenetic protein receptor type-1A isoform 4 |
| NM_001406585.1 | NP_001393514.1 | bone morphogenetic protein receptor type-1A isoform 5 |
| NM_001406569.1 | NP_001393498.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406571.1 | NP_001393500.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406572.1 | NP_001393501.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406582.1 | NP_001393511.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| NM_001406573.1 | NP_001393502.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NR_176212.1 | ||
| NM_001406563.1 | NP_001393492.1 | bone morphogenetic protein receptor type-1A isoform 3 precursor |
| NM_001406577.1 | NP_001393506.1 | bone morphogenetic protein receptor type-1A isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATP binding |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables BMP binding |
IPI
IPI: Inferred from physical interaction
|
18184661 | GOA |
| enables BMP receptor activity |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables SMAD binding |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10881198 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
18436533 | GOA |
| enables protein serine/threonine kinase activity |
IDA
IDA: Inferred from direct assay
|
12065756 | GOA |
| enables transforming growth factor beta receptor activity, type I |
IDA
IDA: Inferred from direct assay
|
9136927 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| colocalizes with caveola |
IMP
IMP: Inferred from mutant phenotype
|
15657086 | GOA |
| located in external side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
24904118 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15657086 | GOA |
BMPR1A Protein Structure
Activin_recp: Activin types I and II receptor domain (59 - 137)
TGF_beta_GS: Transforming growth factor beta type I GS-motif (204 - 232)
Pkinase: Protein kinase domain (235 - 519)
- 0
- 100
- 200
- 300
- 400
- 500
- 532 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bone morphogenetic protein receptor type-1A |
|
|
BMPR1A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
BMPR1A | P36894 | BMP2 | Homo sapiens | P12643 | 19804412 | |
|
Intra
|
BMPR1A | P36894 | BMP4 | Homo sapiens | P12644 | 20860622 | |
|
Intra
|
BMPR1A | P36894 | GDF5 | Homo sapiens | P43026 | 19229295 |
Recombinant BMPR1A Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7484 | BMPR1A/ALK-3 Protein, Human (HEK293, Fc-His) | P36894 (Q24-R152) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P75594 | BMPR1A/ALK-3 Protein, Human (HEK293, His) | P36894 (Q24-R152) | ≥ 85%, as determined by reducing SDS-PAGE. |
BMPR1A Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84287 | BMPR1A Antibody (YA3984) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84287A | BMPR1A Antibody (YA3984)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P87255 | BMPR1A Antibody | WB, IHC-P, IHC-F, IF-Tissue | Human, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Juvenile Polyposis Syndrome |
|
|
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Tumor Predisposition Syndrome |
|
|
| Lipoma Of Colon |
|
|
| Persistent Mullerian Duct Syndrome |
|
|
| Microcephaly |
|
|
| Brachydactyly, Type A2 |
|
|
| Brachydactyly |
|
|
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
|
| Desmoid Tumor |
|
|
| Cowden Syndrome |
|
|
| Diffuse Gastric Cancer |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Pseudohermaphroditism |
|
|
| Arteriovenous Malformation |
|
|
| Hemochromatosis Type 2 |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Large Intestine Lipoma |
|
|
| Intussusception |
|
|
| Atrioventricular Septal Defect |
|
|
| Proximal Symphalangism |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Cowden Syndrome 1 |
|
|
| Familial Adenomatous Polyposis |
|
|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
|
| Chromosome 10q23 Deletion Syndrome |
|
|
| Telangiectasis |
|
|
| Fibrodysplasia Ossificans Progressiva |
|
|
| Tooth Agenesis |
|
|
| Leber Congenital Amaurosis 17 |
|
|
| Li-Fraumeni Syndrome |
|
|
| Juvenile Polyposis Of Infancy |
|
|
| Lung Combined Large Cell Neuroendocrine Carcinoma |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Breast Cancer |
|
|
| Lynch Syndrome |
|
|
| Familial Adenomatous Polyposis 2 |
|
|
| Protein-Losing Enteropathy |
|
|
| Atrial Heart Septal Defect |
|
|
| Double Outlet Right Ventricle |
|
|
| Cleft Palate, Isolated |
|
|
| Pulmonary Hypertension |
|
|
| Orofacial Cleft |
|
|
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
|
| Split-Hand/Foot Malformation 2 |
|
|
| Craniosynostosis |
|
|
| Familial Colorectal Cancer Type X |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | BMPR1A | VGNC | VGNC:38484 |
| Macaca mulatta | BMPR1A | VGNC | VGNC:100301 |
| Mus musculus | BMPR1A | MGD | MGI:1338938 |
| Felis catus | BMPR1A | VGNC | VGNC:60137 |
| Rattus norvegicus | BMPR1A | RGD | RGD:70989 |
| Bos taurus | BMPR1A | VGNC | VGNC:26524 |
| Others | BMPR1A | NCBI |