Endometriosis Knowledgebase

Search Result

Gene id

658

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

BMPR1B Gene UCSC Ensembl

Aliases

ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293

Gene name

bone morphogenetic protein receptor type 1B

Alternate names

bone morphogenetic protein receptor type-1B, BMP type-1B receptor, BMPR-1B, activin receptor-like kinase 6, bone morphogenetic protein receptor, type IB, serine/threonine receptor kinase,

Gene location

4q22.3 (94757976: 95158452) Exons: 19 NC_000004.12

Gene summary(Entrez)

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

OMIM

603248

Protein Summary

Protein general information

O00238

Name: Bone morphogenetic protein receptor type 1B (BMP type 1B receptor) (BMPR 1B) (EC 2.7.11.30) (CD antigen CDw293)

Length: 502 Mass: 56,930

Sequence

MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEEDDSGLPVVTSGCLGLE
GSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVDGPIHHRALLISVTVCSLLLVLIILFCYFRY
KRQETRPRYSIGLEQDETYIPPGESLRDLIEQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRG
EKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTNEVDIPPNTRVGTK
RYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLR
PSFPNRWSSDECLRQMGKLMTECWAHNPASRLTALRVKKTLAKMSESQDIKL

Structural information

Protein Domains	GS. (174-203) Protein (204-494)
Interpro:	IPR000472 IPR003605 IPR011009 IPR000719 IPR017441 IPR001245 IPR008271 IPR000333
Prosite:	PS51256 PS00107 PS50011 PS00108
Pfam:	PF01064 PF07714 PF08515
PDB:	3MDY
PDBsum:	3MDY
MINT:	1340235
STRING:	ENSP00000264568;

Other Databases

GeneCards: BMPR1B; Malacards: BMPR1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system developme nt	IMP	biological_process
GO:0001502	cartilage condensation	NAS	biological_process
GO:0001550	ovarian cumulus expansion	ISS	biological_process
GO:0001654	eye development	ISS	biological_process
GO:0001948	glycoprotein binding	IPI	molecular_function
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	NAS	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	IMP	molecular_function
GO:0004702	signal transducer, downst ream of receptor, with se rine/threonine kinase act ivity	IEA	molecular_function
GO:0005025	transforming growth facto r beta receptor activity, type I	IEA	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:0005524	ATP binding	IDA	molecular_function
GO:0005886	plasma membrane	ISS	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:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IC	cellular_component
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0023014	signal transduction by pr otein phosphorylation	IEA	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030425	dendrite	IEA	cellular_component
GO:0030501	positive regulation of bo ne mineralization	IMP	biological_process
GO:0030509	BMP signaling pathway	NAS	biological_process
GO:0030509	BMP signaling pathway	IDA	biological_process
GO:0030509	BMP signaling pathway	TAS	biological_process
GO:0031290	retinal ganglion cell axo n guidance	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	ISS	biological_process
GO:0035108	limb morphogenesis	IMP	biological_process
GO:0042698	ovulation cycle	ISS	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043235	receptor complex	TAS	cellular_component
GO:0045597	positive regulation of ce ll differentiation	IMP	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046332	SMAD binding	IDA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0071773	cellular response to BMP stimulus	IMP	biological_process
GO:1902043	positive regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	IEA	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1990712	HFE-transferrin receptor complex	IC	cellular_component
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0001501	skeletal system developme nt	IMP	biological_process
GO:0001502	cartilage condensation	IEA	biological_process
GO:0001502	cartilage condensation	NAS	biological_process
GO:0001550	ovarian cumulus expansion	IEA	biological_process
GO:0001550	ovarian cumulus expansion	ISS	biological_process
GO:0001654	eye development	IEA	biological_process
GO:0001654	eye development	ISS	biological_process
GO:0001948	glycoprotein binding	IPI	molecular_function
GO:0002062	chondrocyte differentiati on	IEA	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0004672	protein kinase activity	IEA	molecular_function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular_function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	IEA	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	NAS	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	IMP	molecular_function
GO:0004702	signal transducer, downst ream of receptor, with se rine/threonine kinase act ivity	IEA	molecular_function
GO:0005025	transforming growth facto r beta receptor activity, type I	IEA	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:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IDA	molecular_function
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	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:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IC	cellular_component
GO:0006468	protein phosphorylation	IEA	biological_process
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0007178	transmembrane receptor pr otein serine/threonine ki nase signaling pathway	IEA	biological_process
GO:0007178	transmembrane receptor pr otein serine/threonine ki nase signaling pathway	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016301	kinase activity	IEA	molecular_function
GO:0016310	phosphorylation	IEA	biological_process
GO:0016740	transferase activity	IEA	molecular_function
GO:0023014	signal transduction by pr otein phosphorylation	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030425	dendrite	IEA	cellular_component
GO:0030501	positive regulation of bo ne mineralization	IMP	biological_process
GO:0030509	BMP signaling pathway	IEA	biological_process
GO:0030509	BMP signaling pathway	NAS	biological_process
GO:0030509	BMP signaling pathway	IDA	biological_process
GO:0030509	BMP signaling pathway	TAS	biological_process
GO:0031290	retinal ganglion cell axo n guidance	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	ISS	biological_process
GO:0035108	limb morphogenesis	IMP	biological_process
GO:0042698	ovulation cycle	IEA	biological_process
GO:0042698	ovulation cycle	ISS	biological_process
GO:0043010	camera-type eye developme nt	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043235	receptor complex	TAS	cellular_component
GO:0045597	positive regulation of ce ll differentiation	IMP	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046332	SMAD binding	IDA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051216	cartilage development	IEA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0071773	cellular response to BMP stimulus	IMP	biological_process
GO:1902043	positive regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	IEA	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1990712	HFE-transferrin receptor complex	IC	cellular_component
GO:0001501	skeletal system developme nt	IMP	biological_process
GO:0001502	cartilage condensation	NAS	biological_process
GO:0001550	ovarian cumulus expansion	ISS	biological_process
GO:0001654	eye development	ISS	biological_process
GO:0001948	glycoprotein binding	IPI	molecular_function
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0002063	chondrocyte development	ISS	biological_process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	NAS	molecular_function
GO:0004675	transmembrane receptor pr otein serine/threonine ki nase activity	IMP	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:0005524	ATP binding	IDA	molecular_function
GO:0005886	plasma membrane	ISS	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:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IC	cellular_component
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030166	proteoglycan biosynthetic process	ISS	biological_process
GO:0030501	positive regulation of bo ne mineralization	IMP	biological_process
GO:0030509	BMP signaling pathway	NAS	biological_process
GO:0030509	BMP signaling pathway	IDA	biological_process
GO:0030509	BMP signaling pathway	TAS	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	ISS	biological_process
GO:0035108	limb morphogenesis	IMP	biological_process
GO:0042698	ovulation cycle	ISS	biological_process
GO:0043235	receptor complex	TAS	cellular_component
GO:0045597	positive regulation of ce ll differentiation	IMP	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046332	SMAD binding	IDA	molecular_function
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0060350	endochondral bone morphog enesis	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0061036	positive regulation of ca rtilage development	ISS	biological_process
GO:0071773	cellular response to BMP stimulus	IMP	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1902731	negative regulation of ch ondrocyte proliferation	ISS	biological_process
GO:1990712	HFE-transferrin receptor complex	IC	cellular_component

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05418  Fluid shear stress and atherosclerosis
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04390  Hippo signaling pathway
hsa04360  Axon guidance
hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases	References
Acromesomelic dysplasia	OMIM: 603248
Attention-deficit hyperactivity disorder (ADHD)	PMID: 20732626
Brachydactyly	OMIM: 603248
Endometriosis	PMID: 24339876
Hypertension	PMID: 22384028
Endometriosis	INFBASE24339876

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24339876	Endometrio sis	rs1970801, rs1434536, and rs11097457	Taiwane se	395 (193 endome triosis patient s, 202 healthy controls)			Show abstract