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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; 1 western clawed frog

HCOP human homology predictions: BMPR1A
Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Bmpr1a

Human
homologs
BMPR1A, bone morphogenetic protein receptor, type IA
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 657
neXtProt AC: NX_P36894

Human Synonyms: 10q23del, ACVRLK3, ALK3, CD292, SKR5

Human Chr (Location): 10q22.3; chr10:86755786-86925188 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human BMPR1A

Mutations,
alleles, and
phenotypes
All mutations/alleles(99) : Gene trapped(90) Targeted(7) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Bmpr1a (5)    Mutations Annotated to Human Diseases (4)    Phenotype Images(6)
Interactions
Bmpr1a interacts with 434 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (82 annotations)
Process anterior/posterior pattern specification, BMP signaling pathway, ...
Component caveola, dendrite, ...
Function ATP binding, glycoprotein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (102 records)
Data Summary: Results (434)    Tissues (274)    Images (78)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 302
Northern blot 8
Western blot 25
RT-PCR 94
cDNA source data(29)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA BMPR1A ; Xenbase bmpr1a ; ZFIN bmpr1aa, bmpr1ab    NEW 
Molecular
reagents
All nucleic(48) Genomic(1) cDNA(31) Primer pair(14) Other(2)
Microarray probesets(10)
Other database
links
VEGA Gene Model OTTMUSG00000036087 (Evidence)
Ensembl Gene Model ENSMUSG00000021796 (Evidence)
Entrez Gene 12166 (Evidence)
DFCI TC1669064, TC1631543, TC1589489, TC1649499, TC1582055
DoTS DT.91447662, DT.91447630, DT.97358438
NIA Mouse Gene Index U035410
EC 2.7.11.30
Consensus CDS Project CCDS26938.1
International Mouse Phenotyping Consortium Status Bmpr1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036087 VEGA Gene Model | MGI Sequence Detail 92608 C57BL/6J ±  kb
transcript OTTMUST00000092723 VEGA | MGI Sequence Detail 5956 Not Applicable 
polypeptide OTTMUSP00000051312 VEGA | MGI Sequence Detail 532 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(6) UniProt(6)
Polymorphisms
RFLP(1) : SNPs within 2kb(520 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000333 Activin type II/Transforming growth factor-beta II receptor
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:220470 Hayano S, et al., Augmented BMP signaling in the neural crest inhibits nasal cartilage morphogenesis by inducing p53-mediated apoptosis. Development. 2015 Apr 1;142(7):1357-67
All references(263)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-1605, MGI:1915998, MGI:2145761, MGI:88183

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory