BMPR1A
Bone morphogenetic protein receptor type-1A
Also known as: ACVRLK3, ALK3, BMR1A_HUMAN, CD292
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P36894
- Gene
- BMPR1A
- Ensembl
- ENSG00000107779
- Chromosome
- 10
- Canonical length
- 532 aa
- Protein class
- Cancer-related genes, CD markers, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
532 residues, UniProt reviewed canonical sequence.
>P36894|BMPR1A
1 MPQLYIYIRL LGAYLFIISR VQGQNLDSML HGTGMKSDSD QKKSENGVTL APEDTLPFLK
61 CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLASGC MKYEGSDFQC KDSPKAQLRR
121 TIECCRTNLC NQYLQPTLPP VVIGPFFDGS IRWLVLLISM AVCIIAMIIF SSCFCYKHYC
181 KSISSRRRYN RDLEQDEAFI PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV
241 GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG
301 SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY GTQGKPAIAH
361 RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDVPLNT RVGTKRYMAP EVLDESLNKN
421 HFQPYIMADI YSFGLIIWEM ARRCITGGIV EEYQLPYYNM VPSDPSYEDM REVVCVKRLR
481 PIVSNRWNSD ECLRAVLKLM SECWAHNPAS RLTALRIKKT LAKMVESQDV KILocalizationUniProt · AlphaFold · HPA
Whether an antibody against BMPR1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 18 nTPM
- thyroid gland: 18 nTPM
- colon: 15 nTPM
- seminal vesicle: 12 nTPM
- endometrium: 12 nTPM
- prostate: 12 nTPM
Single-cell type
- myonuclei: 857 nCPM
- cardiomyocytes: 587 nCPM
- prostatic glandular cells: 395 nCPM
- rod photoreceptor cells: 343 nCPM
- pituicytes/fscs: 335 nCPM
- lacrimal acinar cells: 332 nCPM
Immune cell
- basophil: 0.3 nTPM
- gdT-cell: 0.3 nTPM
- MAIT T-cell: 0.2 nTPM
- memory B-cell: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
- memory CD8 T-cell: 0.2 nTPM
Brain region
- medulla oblongata: 19 nTPM
- spinal cord: 18 nTPM
- hypothalamus: 18 nTPM
- white matter: 18 nTPM
- midbrain: 17 nTPM
- cerebellum: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BMPR1A.
Disease | AllUniProt
Conditions BMPR1A is implicated in, by any mechanism.
- Juvenile polyposis syndrome (JPS) MIM:174900
- Polyposis syndrome, mixed hereditary 2 (HMPS2) MIM:610069
Disease | GeneticClinVar
307 pathogenic / likely-pathogenic of 2,743 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Juvenile polyposis syndrome
- Hereditary cancer-predisposing syndrome
- Generalized juvenile polyposis/juvenile polyposis coli
- Polyposis syndrome, hereditary mixed, 2
- Neoplasm
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.36
- gnomAD pLI
- 0.9
- gnomAD missense Z
- 1.92
- DepMap mean gene effect
- -0.23
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- anti-Mullerian hormone receptor signaling pathway
- atrioventricular node cell development
- atrioventricular valve development
- BMP signaling pathway
- cardiac conduction system development
- cardiac right ventricle morphogenesis
- cell differentiation
- cellular response to BMP stimulus
- cellular response to growth factor stimulus
- central nervous system neuron differentiation
- chondrocyte differentiation
- developmental growth
- dorsal aorta morphogenesis
- dorsal/ventral axis specification
- dorsal/ventral pattern formation
- ectoderm development
- embryonic digit morphogenesis
- embryonic organ development
- endocardial cushion formation
- endocardial cushion morphogenesis
- epithelial cell proliferation
- heart formation
- hindlimb morphogenesis
- immune response
- in utero embryonic development
- lateral mesoderm development
- lung development
- MAPK cascade
- mesendoderm development
- mesoderm formation
- mitral valve morphogenesis
- Mullerian duct regression
- negative regulation of gene expression
- negative regulation of muscle cell differentiation
- negative regulation of neurogenesis
- negative regulation of smooth muscle cell migration
- neural crest cell development
- odontogenesis of dentin-containing tooth
- osteoblast differentiation
- outflow tract morphogenesis
- outflow tract septum morphogenesis
- pharyngeal arch artery morphogenesis
- pituitary gland development
- positive regulation of bone mineralization
- positive regulation of cardiac muscle cell proliferation
- positive regulation of dendrite development
- positive regulation of epithelial cell proliferation
- positive regulation of gene expression
- positive regulation of mesenchymal cell proliferation
- positive regulation of miRNA transcription
- positive regulation of osteoblast differentiation
- positive regulation of SMAD protein signal transduction
- positive regulation of transcription by RNA polymerase II
- positive regulation of transforming growth factor beta2 production
- positive regulation of vascular associated smooth muscle cell proliferation
- protein import into nucleus
- regulation of cardiac muscle cell proliferation
- regulation of cellular senescence
- regulation of lateral mesodermal cell fate specification
- roof of mouth development
- somatic stem cell population maintenance
- somitogenesis
- stem cell differentiation
- transforming growth factor beta receptor signaling pathway
- tricuspid valve morphogenesis
- ventricular compact myocardium morphogenesis
- ventricular septum morphogenesis
- ventricular trabecula myocardium morphogenesis
- fibrous ring of heart morphogenesis
- neural plate mediolateral regionalization
- paraxial mesoderm structural organization
- positive regulation of cardiac ventricle development
Molecular functions
- ATP binding
- BMP binding
- BMP receptor activity
- metal ion binding
- protein homodimerization activity
- protein serine/threonine kinase activity
- SMAD binding
- transforming growth factor beta receptor activity, type I
- transmembrane receptor protein serine/threonine kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ser/Thr protein kinase, TGFB receptor
- Activin types I and II receptor domain
- Protein kinase domain
- Serine-threonine/tyrosine-protein kinase, catalytic domain
- GS domain
- Serine/threonine-protein kinase, active site
- Protein kinase-like domain superfamily
- Protein kinase, ATP binding site
- Snake toxin-like superfamily
- Activin types I and II receptor domain
- Protein tyrosine and serine/threonine kinase
- Transforming growth factor beta type I GS-motif
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BMPR1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BMPR1A as an antibody target. Whether an autoantibody or antibody against BMPR1A could matter depends on whether native BMPR1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BMPR1A is annotated at the cell surface, where native BMPR1A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label BMPR1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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