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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

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; chr10:86756639-86925188 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human BMPR1A
Mutations,
alleles, and
phenotypes
All mutations/alleles(96) : Gene trapped(90) Targeted(6)
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 Using Mouse Bmpr1a (3)    Alleles Annotated to Human Diseases(3)    Phenotype Images(6)
Interactions
Bmpr1a interacts with 435 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (80 annotations)
Process anterior/posterior pattern specification, BMP signaling pathway, ...
Component caveola, dendrite, ...
Function ATP binding, kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (95 records)
Data Summary: Results (355)    Tissues (256)    Images (66)
Theiler Stages: 2, 3, 9, 10, 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 28
Assay TypeResults
RNA in situ 302
Northern blot 8
RT-PCR 45
cDNA source data(29)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(39) Genomic(1) cDNA(31) Primer pair(5) Other(2)
Microarray probesets(10)
Other database
links
VEGA Gene ModelOTTMUSG00000036087 (Evidence)
Ensembl Gene ModelENSMUSG00000021796 (Evidence)
Entrez Gene12166 (Evidence)
DFCITC1582055, TC1589489, TC1631543, TC1649499, TC1669064
DoTSDT.91447630, DT.91447662, DT.97358438
NIA Mouse Gene IndexU035410
EC2.7.11.30
Consensus CDS ProjectCCDS26938.1
International Mouse Knockout Project StatusBmpr1a
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:210318 Miyagawa S, et al., Disruption of the temporally regulated cloaca endodermal beta-catenin signaling causes anorectal malformations. Cell Death Differ. 2014 Jun;21(6):990-7
All references(248)
Disease annotation references (2)
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
Citing These Resources
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory