Bmpr1a
Gene Detail

Symbol Name ID

Bmpr1a bone morphogenetic protein receptor, type 1A MGI:1338938

Synonyms

1110037I22Rik, ALK3, Bmpr, BMPR-IA

Feature Type

protein coding gene

Genetic Map

Chromosome 14

20.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr14:34410734-34503341 bp, - strand From VEGA annotation of GRCm38   92608 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20911  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Bmpr1a

Human homologs

Human Homolog		BMPR1A, bone morphogenetic protein receptor, type IA
NCBI Gene ID		657
neXtProt AC		NX_P36894
Human Synonyms		10q23del, ACVRLK3, ALK3, CD292, SKR5
Human Chr (Location)		10q22.3; chr10:88516396-88684945 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human BMPR1A

Alleles and phenotypes

All alleles(95) : Targeted(6) Gene trapped(89)
 

Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb.

 
Human Diseases Modeled Using Mouse Bmpr1a (3)    Alleles Annotated to Human Diseases(3)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (79 annotations)

Process	anterior/posterior pattern specification, BMP signaling pathway, ...
Component	caveola, dendrite, ...
Function	ATP binding, kinase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (86 records)
Data Summary: Results (345)    Tissues (251)    Images (60)
Theiler Stages: 2, 3, 9, 10, 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
RNA in situ	292
Northern blot	8
RT-PCR	45

cDNA source data(155)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(164) Genomic(1) cDNA(157) Primer pair(5) Other(1)
Microarray probesets(10)

Other database links

VEGA Gene Model	OTTMUSG00000036087 (Evidence)
Ensembl Gene Model	ENSMUSG00000021796 (Evidence)
Entrez Gene	12166 (Evidence)
UniGene	237825
DFCI	TC1582055, TC1589489, TC1631543, TC1649499, TC1669064
DoTS	DT.91447630, DT.91447662, DT.97358438
NIA Mouse Gene Index	U035410
EC	2.7.11.30
Consensus CDS Project	CCDS26938.1
International Mouse Knockout Project Status	Bmpr1a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036087	VEGA Gene Model | MGI Sequence Detail	92608	C57BL/6J
transcript	OTTMUST00000092723	VEGA | MGI Sequence Detail	5956	Not Applicable
polypeptide	OTTMUSP00000051312	VEGA | MGI Sequence Detail	532	Not Applicable

All sequences(61) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(431 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017441	Protein kinase, ATP binding site
InterPro	IPR000719	Protein kinase, catalytic domain
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR008271	Serine/threonine-protein kinase, active site
InterPro	IPR000472	TGF-beta receptor/activin receptor, type I/II
InterPro	IPR003605	TGF beta receptor, GS motif
Protein Ontology	PR:000000035	BMP receptor type-1A

References

(Earliest) J:148755 Burgoyne PS, et al., XY follicle cells in ovaries of XX----XY female mouse chimaeras. Development. 1988 Dec;104(4):683-8
(Latest) J:193718 Kandyba E, et al., Competitive balance of intrabulge BMP/Wnt signaling reveals a robust gene network ruling stem cell homeostasis and cyclic activation. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1351-6
All references(229)

Other accession IDs

MGD-MRK-1605, MGI:1915998, MGI:2145761, MGI:88183