Bmpr1a bone morphogenetic protein receptor, type 1A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bmpr1aprovided by MGI
Official Full Name: bone morphogenetic protein receptor, type 1Aprovided by MGI
Primary source: MGI:MGI:1338938
See related: Ensembl:ENSMUSG00000021796 AllianceGenome:MGI:1338938
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALK3; Bmpr; SKR5; ALK-3; BMPR-1A; BMPR-IA; 1110037I22Rik
Summary: Enables BMP binding activity and BMP receptor activity. Involved in several processes, including circulatory system development; fibrous ring of heart morphogenesis; and positive regulation of cell population proliferation. Acts upstream of or within several processes, including limb morphogenesis; regionalization; and regulation of gene expression. Located in cell surface. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Ebstein anomaly; Wolff-Parkinson-White syndrome; chromosome 10q23 deletion syndrome; juvenile polyposis syndrome; and osteoarthritis. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bladder adult (RPKM 18.4), limb E14.5 (RPKM 14.7) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 20.81 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (34133018..34225335, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (34411061..34503336, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defective mesenchymal Bmpr1a-mediated BMP signaling causes congenital pulmonary cysts.
Title: Defective mesenchymal Bmpr1a-mediated BMP signaling causes congenital pulmonary cysts.
Hyperthyroidism-driven bone loss depends on BMP receptor Bmpr1a expression in osteoblasts.
Title: Hyperthyroidism-driven bone loss depends on BMP receptor Bmpr1a expression in osteoblasts.
Crosstalk between ALK3(BMPR1A) deficiency and autophagy signaling mitigates pathological bone loss in osteoporosis.
Title: Crosstalk between ALK3(BMPR1A) deficiency and autophagy signaling mitigates pathological bone loss in osteoporosis.
Taste papilla cell differentiation requires the regulation of secretory protein production by ALK3-BMP signaling in the tongue mesenchyme.
Title: Taste papilla cell differentiation requires the regulation of secretory protein production by ALK3-BMP signaling in the tongue mesenchyme.
Axin2-CreERT2 mediated knockout of bone morphogenetic protein receptor type 1A caused abnormal secondary dentine and altered cell fate of Axin2-expressing odontogenic cells.
Title: Axin2-CreERT2 mediated knockout of bone morphogenetic protein receptor type 1A caused abnormal secondary dentine and altered cell fate of Axin2-expressing odontogenic cells.
BMPR1A promotes ID2-ZEB1 interaction to suppress excessive endothelial to mesenchymal transition.
Title: BMPR1A promotes ID2-ZEB1 interaction to suppress excessive endothelial to mesenchymal transition.
Developmental thyroid hormone action on pro-opiomelanocortin-expressing cells programs hypothalamic BMPR1A depletion and brown fat activation.
Title: Developmental thyroid hormone action on pro-opiomelanocortin-expressing cells programs hypothalamic BMPR1A depletion and brown fat activation.
BMPR1a Is Required for the Optimal TGFbeta1-Dependent CD207(+) Langerhans Cell Differentiation and Limits Skin Inflammation through CD11c(+) Cells.
Title: BMPR1a Is Required for the Optimal TGFβ1-Dependent CD207(+) Langerhans Cell Differentiation and Limits Skin Inflammation through CD11c(+) Cells.
Axin2-expressing cells in the periodontal ligament are regulated by bone morphogenetic protein signalling and play a pivotal role in periodontium development.
Title: Axin2-expressing cells in the periodontal ligament are regulated by bone morphogenetic protein signalling and play a pivotal role in periodontium development.
Roles of Bone Morphogenetic Protein Receptor 1A in Germinal Centers and Long-Lived Humoral Immunity.
Title: Roles of Bone Morphogenetic Protein Receptor 1A in Germinal Centers and Long-Lived Humoral Immunity.

Submit: New GeneRIF Correction See all GeneRIFs (138)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bmpr1a (e-PCR), detects polymorphism
- UniSTS:496647

D14Mit189 (e-PCR), detects polymorphism
- UniSTS:127301

Bmpr1a (e-PCR), detects polymorphism
- UniSTS:480335

UniSTS:237164 (e-PCR)
- UniSTS:237164

AU045487 (e-PCR)
- UniSTS:160373

Bmpr1a (e-PCR), detects polymorphism
- UniSTS:506754

RH136590 (e-PCR)
- UniSTS:210570

U04672 (e-PCR)
- UniSTS:125646

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP binding	ISO Inferred from Sequence Orthology more info
enables BMP receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables BMP receptor activity	ISO Inferred from Sequence Orthology more info
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IEA Inferred from Electronic Annotation more info
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
enables transforming growth factor beta receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta receptor activity, type I	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type I	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Mullerian duct regression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac conduction system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within central nervous system neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chondrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dorsal aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dorsal/ventral pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ectoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibrous ring of heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lateral mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesendoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of smooth muscle cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural plate mediolateral regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural plate pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within paraxial mesoderm development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within paraxial mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within paraxial mesoderm structural organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pharyngeal arch artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pituitary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac ventricle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transforming growth factor beta2 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of cardiac muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cellular senescence	IGI Inferred from Genetic Interaction more info	PubMed
NOT involved_in regulation of endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of lateral mesodermal cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
NOT involved_in regulation of neural crest cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of neural crest cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatic stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in tricuspid valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular compact myocardium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular trabecula myocardium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	IEA Inferred from Electronic Annotation more info
colocalizes_with caveola	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: bone morphogenetic protein receptor type-1A

Names: BMP type-1A receptor; BMP-2/BMP-4 receptor; activin receptor-like kinase 3; serine/threonine-protein kinase receptor R5

NP_033888.2

EC 2.7.11.30

XP_006518532.1

EC 2.7.11.30

XP_006518533.1

EC 2.7.11.30

XP_036014305.1

EC 2.7.11.30

XP_036014306.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009758.4 → NP_033888.2 bone morphogenetic protein receptor type-1A precursor

See identical proteins and their annotated locations for NP_033888.2

Status: VALIDATED

Source sequence(s)

AC160930, AC166105

Consensus CDS

CCDS26938.1

UniProtKB/Swiss-Prot

P36895

UniProtKB/TrEMBL

Q53Z43, Q60607

Related

ENSMUSP00000035900.9, ENSMUST00000049005.15

Conserved Domains (3) summary

cd14220
Location:238 → 524

STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

pfam01064
Location:63 → 132

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:205 → 232

TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

34133018..34225335 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518470.5 → XP_006518533.1 bone morphogenetic protein receptor type-1A isoform X1

See identical proteins and their annotated locations for XP_006518533.1

UniProtKB/Swiss-Prot

P36895

UniProtKB/TrEMBL

Q53Z43, Q60607

Conserved Domains (3) summary

cd14220
Location:238 → 524

STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

pfam01064
Location:63 → 132

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:205 → 232

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_006518469.5 → XP_006518532.1 bone morphogenetic protein receptor type-1A isoform X1

See identical proteins and their annotated locations for XP_006518532.1

UniProtKB/Swiss-Prot

P36895

UniProtKB/TrEMBL

Q53Z43, Q60607

Conserved Domains (3) summary

cd14220
Location:238 → 524

STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

pfam01064
Location:63 → 132

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:205 → 232

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_036158413.1 → XP_036014306.1 bone morphogenetic protein receptor type-1A isoform X1

UniProtKB/Swiss-Prot

P36895

UniProtKB/TrEMBL

Q53Z43, Q60607

Conserved Domains (3) summary

cd14220
Location:238 → 524

STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

pfam01064
Location:63 → 132

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:205 → 232

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_036158412.1 → XP_036014305.1 bone morphogenetic protein receptor type-1A isoform X1

UniProtKB/Swiss-Prot

P36895

UniProtKB/TrEMBL

Q53Z43, Q60607

Conserved Domains (3) summary

cd14220
Location:238 → 524

STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

pfam01064
Location:63 → 132

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:205 → 232

TGF_beta_GS; Transforming growth factor beta type I GS-motif