Gene: Bmpr1a

Basic information

Tag Content
Uniprot ID P36895
Entrez ID 12166
Genbank protein ID AAH42611.1; AAA21514.1; CAA80678.1; BAA03769.1;
Genbank nucleotide ID XM_006518470.3; XM_017315806.1; NM_009758.4; XM_006518469.3;
Ensembl protein ID ENSMUSP00000035900
Ensembl nucleotide ID ENSMUSG00000021796
Gene name Bone morphogenetic protein receptor type-1A
Gene symbol Bmpr1a
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLP
Developmental stage
Data sources Manually collected
Reference 22773757; 15716346; 23776616;
Functional description On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction (PubMed:24098149). Mediates induction of adipogenesis by GDF6 (PubMed:23527555).
Sequence
MTQLYTYIRL LGACLFIISH VQGQNLDSML HGTGMKSDLD QKKPENGVTL APEDTLPFLK 60
CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLTSGC MKYEGSDFQC KDSPKAQLRR 120
TIECCRTNLC NQYLQPTLPP VVIGPFFDGS IRWLVVLISM AVCIVAMIIF SSCFCYKHYC 180
KSISSRGRYN RDLEQDEAFI PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV 240
GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG 300
SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY GTQGKPAIAH 360
RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDIPLNT RVGTKRYMAP EVLDESLNKN 420
HFQPYIMADI YSFGLIIWEM ARRCITGGIV EEYQLPYYNM VPSDPSYEDM REVVCVKRLR 480
PIVSNRWNSD ECLRAVLKLM SECWAHNPAS RLTALRIKKT LAKMVESQDV KI 532

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologBMPR1A404101F1MCE7Bos taurusPredictionMore>>
1:1 orthologBMPR1A489077E2QW66Canis lupus familiarisPredictionMore>>
1:1 orthologBMPR1AA0A452DLK9Capra hircusPredictionMore>>
1:1 orthologBMPR1AF6UG39Equus caballusPredictionMore>>
1:1 orthologBMPR1A657P36894Homo sapiensPredictionMore>>
1:1 orthologBmpr1a12166P36895CPO,CLPMus musculusPublicationMore>>
1:1 orthologBMPR1A450572H2Q272Pan troglodytesPredictionMore>>
1:1 orthologBMPR1A100350518G1TCM6Oryctolagus cuniculusPredictionMore>>
1:1 orthologBmpr1a81507Q78EA7Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIDA
GO:0004674 protein serine/threonine kinase activityISO
GO:0004674 protein serine/threonine kinase activityIBA
GO:0005025 transforming growth factor beta receptor activity, type IIBA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingISO
GO:0042803 protein homodimerization activityISO
GO:0046332 SMAD bindingISO
GO:0046332 SMAD bindingIBA
GO:0046872 metal ion bindingIEA
GO:0098821 BMP receptor activityIMP

GO:Biological Process

GO ID GO Term Evidence
GO:0001701 in utero embryonic developmentIMP
GO:0001707 mesoderm formationIMP
GO:0001756 somitogenesisIMP
GO:0001880 Mullerian duct regressionIMP
GO:0002053 positive regulation of mesenchymal cell proliferationIMP
GO:0002062 chondrocyte differentiationIDA
GO:0003007 heart morphogenesisIMP
GO:0003148 outflow tract septum morphogenesisIMP
GO:0003151 outflow tract morphogenesisIMP
GO:0003161 cardiac conduction system developmentIMP
GO:0003183 mitral valve morphogenesisIMP
GO:0003186 tricuspid valve morphogenesisIMP
GO:0003203 endocardial cushion morphogenesisIMP
GO:0003215 cardiac right ventricle morphogenesisIMP
GO:0003222 ventricular trabecula myocardium morphogenesisIMP
GO:0003223 ventricular compact myocardium morphogenesisIMP
GO:0003272 endocardial cushion formationIMP
GO:0006468 protein phosphorylationISO
GO:0006468 protein phosphorylationIBA
GO:0006955 immune responseISO
GO:0007389 pattern specification processIMP
GO:0007398 ectoderm developmentIMP
GO:0007399 nervous system developmentIMP
GO:0007492 endoderm developmentIMP
GO:0007507 heart developmentIMP
GO:0009950 dorsal/ventral axis specificationIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0009953 dorsal/ventral pattern formationIGI
GO:0009953 dorsal/ventral pattern formationIBA
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationISO
GO:0014032 neural crest cell developmentIMP
GO:0014912 negative regulation of smooth muscle cell migrationISO
GO:0019827 stem cell population maintenanceIMP
GO:0021983 pituitary gland developmentIMP
GO:0021998 neural plate mediolateral regionalizationIMP
GO:0030154 cell differentiationIGI
GO:0030324 lung developmentIMP
GO:0030501 positive regulation of bone mineralizationISO
GO:0030509 BMP signaling pathwayISO
GO:0030509 BMP signaling pathwayIGI
GO:0030509 BMP signaling pathwayIMP
GO:0030509 BMP signaling pathwayIBA
GO:0030509 BMP signaling pathwayIDA
GO:0035137 hindlimb morphogenesisIMP
GO:0035912 dorsal aorta morphogenesisIMP
GO:0042475 odontogenesis of dentin-containing toothIMP
GO:0042733 embryonic digit morphogenesisIGI
GO:0045669 positive regulation of osteoblast differentiationISO
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048339 paraxial mesoderm developmentIGI
GO:0048339 paraxial mesoderm developmentIMP
GO:0048352 paraxial mesoderm structural organizationIMP
GO:0048368 lateral mesoderm developmentIMP
GO:0048378 regulation of lateral mesodermal cell fate specificationIGI
GO:0048382 mesendoderm developmentIMP
GO:0048568 embryonic organ developmentIMP
GO:0048589 developmental growthIMP
GO:0048598 embryonic morphogenesisIMP
GO:0050679 positive regulation of epithelial cell proliferationIMP
GO:0050768 negative regulation of neurogenesisIMP
GO:0051216 cartilage developmentIMP
GO:0060021 roof of mouth developmentIMP
GO:0060043 regulation of cardiac muscle cell proliferationIMP
GO:0060045 positive regulation of cardiac muscle cell proliferationIMP
GO:0060391 positive regulation of SMAD protein signal transductionISO
GO:0060896 neural plate pattern specificationIMP
GO:0060914 heart formationIMP
GO:0061312 BMP signaling pathway involved in heart developmentIC
GO:0061626 pharyngeal arch artery morphogenesisIMP
GO:0071363 cellular response to growth factor stimulusIBA
GO:0071773 cellular response to BMP stimulusISO
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase IIIDA
GO:1904414 positive regulation of cardiac ventricle developmentIMP
GO:1904707 positive regulation of vascular smooth muscle cell proliferationISO
GO:1904707 positive regulation of vascular smooth muscle cell proliferationIMP
GO:1905285 fibrous ring of heart morphogenesisIMP
GO:2000772 regulation of cellular senescenceIGI
GO:0001936 regulation of endothelial cell proliferationIDA
GO:0010665 regulation of cardiac muscle cell apoptotic processIMP
GO:0045601 regulation of endothelial cell differentiationIDA
GO:1905292 regulation of neural crest cell differentiationIMP
GO:1905295 regulation of neural crest cell fate specificationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005886 plasma membraneISO
GO:0005886 plasma membraneIBA
GO:0009897 external side of plasma membraneISO
GO:0009986 cell surfaceIDA
GO:0016021 integral component of membraneIEA
GO:0030425 dendriteISO
GO:0043025 neuronal cell bodyISO
GO:0043235 receptor complexIBA
GO:0005901 caveolaISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-201451 Signaling by BMPIEA
R-MMU-9006936 Signaling by TGF-beta family membersIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0418 Kinase
KW-0460 Magnesium
KW-0464 Manganese
KW-0472 Membrane
KW-0479 Metal-binding
KW-0547 Nucleotide-binding
KW-0675 Receptor
KW-1185 Reference proteome
KW-0723 Serine/threonine-protein kinase
KW-0732 Signal
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR000472 Activin_recp
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor

PROSITE

PROSITE ID PROSITE Term
PS51256 GS
PS00107 PROTEIN_KINASE_ATP
PS50011 PROTEIN_KINASE_DOM
PS00108 PROTEIN_KINASE_ST

Pfam

Pfam ID Pfam Term
PF01064 Activin_recp
PF00069 Pkinase
PF08515 TGF_beta_GS

Protein-protein interaction

Protein-miRNA interaction