• Gene id: 657

Gene Summary

• Gene Symbol: BMPR1A   Gene   UCSC   Ensembl
• Aliases: 10q23del, ACVRLK3, ALK3, CD292, SKR5
• Gene name: bone morphogenetic protein receptor type 1A
• Alternate names: bone morphogenetic protein receptor type-1A, ALK-3, BMP type-1A receptor, BMPR-1A, activin A receptor, type II-like kinase 3, activin receptor-like kinase 3, bone morphogenetic protein receptor, type IA, serine/threonine-protein kinase receptor R5,
• Gene location: 10q23.2 (86755785: 86927968)     Exons: 15     NC_000010.11
• Gene summary(Entrez): The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, AC
• OMIM: 601299

SNPs

rs2270641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20180955T>C
NC_000008.11   g.20180955T>G
NC_000008.10   g.20038466T>C
NC_000008.10   g.20038466T>G
NM_003053.4   c.10A>G
NM_003053.4   c.10A>C
NM_003053.3   c.10A>G
NM_003053.3   c.10A>C
NM_001135691.2   c.10A>G
NM_001135691.2   c.10A>C
NM_001142324.1   c

rs1051266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.45537880T>C
NC_000021.9   g.45537880T>G
NC_000021.8   g.46957794T>C
NC_000021.8   g.46957794T>G
NG_028278.2   g.30264A>G
NG_028278.2   g.30264A>C
NM_194255.4   c.80A>G
NM_194255.4   c.80A>C
NM_194255.3   c.80A>G
NM_194255.3   c.80A>C
NM_194255.2   c.80A>G
  

rs1390938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20179202A>G
NC_000008.10   g.20036713A>G
NM_003053.4   c.407T>C
NM_003053.3   c.407T>C
NM_001135691.2   c.407T>C
NM_001142324.1   c.407T>C
NM_001142324.2   c.407T>C
NM_001142325.1   c.407T>C
XM_011544625.1   c.407T>C
XM_011544626.1   c.407T>C
NP_003044.  

Protein Summary

• Protein general information: P36894  
  • Name: Bone morphogenetic protein receptor type 1A (BMP type 1A receptor) (BMPR 1A) (EC 2.7.11.30) (Activin receptor like kinase 3) (ALK 3) (Serine/threonine protein kinase receptor R5) (SKR5) (CD antigen CD292)
  • Length: 532  
  • Mass: 60198
  • Tissue specificity: Highly expressed in skeletal muscle.
• Sequence:

  MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNT
  CITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGS
  IRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLL
  VQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
  SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGS
  CCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIV
  EEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMV
  ESQDVKI

• Structural information:
  • Protein Domains: (204..23-)
    (/note="GS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00585-)
    (234..52-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000472  IPR003605  IPR011009  IPR000719  IPR017441   IPR001245  IPR008271  IPR000333  
  • Prosite: PS51256 PS00107 PS50011 PS00108
  • PDB: 1ES7 1REW 2GOO 2H62 2H64 2K3G 2QJ9 2QJA 2QJB 3NH7 3QB4
  • PDBsum: 1ES7 1REW 2GOO 2H62 2H64 2K3G 2QJ9 2QJA 2QJB 3NH7 3QB4
  • DIP: 5793
  • STRING: ENSP00000361107
• Other Databases: GeneCards:  BMPR1A  Malacards:  BMPR1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0009953	dorsal/ventral pattern formation	IBA	biological process
GO:0046332	SMAD binding	IBA	molecular function
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005025	transforming growth factor beta receptor activity, type I	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0098821	BMP receptor activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003161	cardiac conduction system development	IEA	biological process
GO:0003183	mitral valve morphogenesis	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0009950	dorsal/ventral axis specification	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0035137	hindlimb morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048352	paraxial mesoderm structural organization	IEA	biological process
GO:0048382	mesendoderm development	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0060043	regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060896	neural plate pattern specification	IEA	biological process
GO:0060914	heart formation	IEA	biological process
GO:0061626	pharyngeal arch artery morphogenesis	IEA	biological process
GO:0098821	BMP receptor activity	IEA	molecular function
GO:1904414	positive regulation of cardiac ventricle development	IEA	biological process
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001880	Mullerian duct regression	IEA	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003186	tricuspid valve morphogenesis	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003223	ventricular compact myocardium morphogenesis	IEA	biological process
GO:0003272	endocardial cushion formation	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0021998	neural plate mediolateral regionalization	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0035912	dorsal aorta morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0048368	lateral mesoderm development	IEA	biological process
GO:0048378	regulation of lateral mesodermal cell fate specification	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IEA	biological process
GO:1905285	fibrous ring of heart morphogenesis	IEA	biological process
GO:2000772	regulation of cellular senescence	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:1990712	HFE-transferrin receptor complex	IC	cellular component
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061312	BMP signaling pathway involved in heart development	IC	biological process
GO:0005901	caveola	IMP	colocalizes with
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0030509	BMP signaling pathway	IC	biological process
GO:0061626	pharyngeal arch artery morphogenesis	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:1904414	positive regulation of cardiac ventricle development	ISS	biological process
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IMP	biological process
GO:0014912	negative regulation of smooth muscle cell migration	IMP	biological process
GO:0003161	cardiac conduction system development	ISS	biological process
GO:0003183	mitral valve morphogenesis	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS	biological process
GO:0060043	regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0003272	endocardial cushion formation	ISS	biological process
GO:0006955	immune response	IMP	biological process
GO:1905292	regulation of neural crest cell differentiation	ISS	NOT|biological process
GO:0010665	regulation of cardiac muscle cell apoptotic process	ISS	NOT|biological process
GO:0035912	dorsal aorta morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003186	tricuspid valve morphogenesis	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0003223	ventricular compact myocardium morphogenesis	ISS	biological process
GO:1905285	fibrous ring of heart morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04390	Hippo signaling pathway
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05418	Fluid shear stress and atherosclerosis
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Juvenile polyposis syndrome	KEGG:H01023
Hereditary mixed polyposis syndrome	KEGG:H01024
Juvenile polyposis syndrome	KEGG:H01023
Hereditary mixed polyposis syndrome	KEGG:H01024
juvenile polyposis syndrome	PMID:11536076
Intestinal disease	PMID:11381269
Pulmonary hypertension	PMID:19324947
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq