BMPR1A Gene
Bone Morphogenetic Protein Receptor Type 1A
Gene Information Card
| Symbol | BMPR1A |
|---|---|
| Full Name | Bone Morphogenetic Protein Receptor Type 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.2 |
| NCBI Gene ID | 657 ncbi.nlm.nih.gov/gene/657 |
| Ensembl ID | ENSG00000107779 |
| UniProt ID | P36894 |
| OMIM ID | 601299 |
| HGNC ID | 1076 |
| Aliases | ALK3, CD292, ACVRLK3, 10q23del |
Description
BMPR1A encodes a serine/threonine kinase receptor that binds bone morphogenetic proteins (BMPs) and mediates BMP signaling through SMAD proteins. It is essential for embryonic development, cell growth, differentiation, and apoptosis. Germline mutations in BMPR1A are associated with juvenile polyposis syndrome and hereditary mixed polyposis syndrome. Somatic alterations are found in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Juvenile Polyposis Syndrome | Loss-of-function mutations impair BMP signaling, leading to hamartomatous polyps in the gastrointestinal tract | ClinVar, OMIM |
| Hereditary Mixed Polyposis Syndrome | Germline BMPR1A deletions or missense variants disrupt receptor activity, predisposing to colorectal polyps | OMIM, NCBI |
| Colorectal Cancer | Somatic mutations and loss of heterozygosity at 10q23.2 contribute to tumor progression | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 12.5 | Medium |
| Colon | 10.8 | Medium |
| Stomach | 9.2 | Medium |
| Lung | 6.7 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cell line |
| HCT 116 | 11.0 | Colorectal carcinoma cell line |
| MCF7 | 8.5 | Breast cancer cell line |
| A549 | 6.2 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.961_962delAG | Frameshift deletion | <0.1% in general population | Loss of function; associated with juvenile polyposis |
| p.Arg486* | Nonsense | Rare | Premature truncation; loss of kinase domain |
| p.Gly328Val | Missense | Rare | Impaired ligand binding; dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift, nonsense, and splice-site mutations that reduce or abolish receptor kinase activity.
Gain of Function (GOF)
Not commonly reported; activating mutations are rare in BMPR1A.
Dominant Negative (DN)
Missense variants (e.g., p.Gly328Val) that interfere with wild-type receptor function.
View complete mutation data：
Gene Ontology (GO)
| • BMP receptor activity | • transmembrane receptor protein serine/threonine kinase activity |
| • SMAD binding | • BMP signaling pathway |
| • cell differentiation | • apoptotic process |
Pathways
• BMP signaling pathway
• TGF-beta signaling pathway
• SMAD-dependent signaling
Protein Summary
BMPR1A is a 532-amino-acid transmembrane receptor with an extracellular ligand-binding domain, a single transmembrane helix, and an intracellular serine/threonine kinase domain. Upon BMP ligand binding, it forms a heteromeric complex with BMPR2, phosphorylates SMAD1/5/8, and regulates transcription of target genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMPR1A Knockout HEK293 Cell Line | EDJ-KQ371 | Human | 657 | Details Get a Quote |
| BMPR1A Knockout HeLa Cell Line | EDJ-KQ17980 | Human | 657 | Details Get a Quote |
| BMPR1A Knockout A-549 Cell Line | EDJ-KQ18567 | Human | 657 | Details Get a Quote |
| BMPR1A Knockout HCT 116 Cell Line | EDJ-KQ18568 | Human | 657 | Details Get a Quote |
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