Entity Details

Primary name BMR1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00238
EntryNameBMR1B_HUMAN
FullNameBone morphogenetic protein receptor type-1B
TaxID9606
Evidenceevidence at protein level
Length502
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesBMPR1B

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001502 cartilage condensation
GO:0001550 ovarian cumulus expansion
GO:0001649 osteoblast differentiation
GO:0001654 eye development
GO:0002063 chondrocyte development
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006468 protein phosphorylation
GO:0006954 inflammatory response
GO:0009953 dorsal/ventral pattern formation
GO:0030166 proteoglycan biosynthetic process
GO:0030425 dendrite
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0031290 retinal ganglion cell axon guidance
GO:0032332 positive regulation of chondrocyte differentiation
GO:0035108 limb morphogenesis
GO:0036122 BMP binding
GO:0042698 ovulation cycle
GO:0043025 neuronal cell body
GO:0043235 receptor complex
GO:0045597 positive regulation of cell differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0060041 retina development in camera-type eye
GO:0060350 endochondral bone morphogenesis
GO:0061036 positive regulation of cartilage development
GO:0071363 cellular response to growth factor stimulus
GO:0071773 cellular response to BMP stimulus
GO:0098821 BMP receptor activity
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902731 negative regulation of chondrocyte proliferation
GO:1990712 HFE-transferrin receptor complex

Subcellular Location

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Subcellular Location
Cell membrane
Membrane

Domains

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DomainNameCategoryType
IPR000333 Ser/Thr protein kinase, TGFB receptorFamilyFamily
IPR000472 Activin types I and II receptor domainDomainDomain
IPR000719 Protein kinase domainDomainDomain
IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domainDomainDomain
IPR003605 GS domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
112600 OMIMBrachydactyly A2 (BDA2)A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. The disease is caused by variants affecting the gene represented in this entry.
609441 OMIMAcromesomelic dysplasia, Demirhan type (AMDD)A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDD inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
616849 OMIMBrachydactyly A1, D (BDA1D)A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB12010 FostamatinibDrugbanksmall molecule

Interactions

72 interactions

InteractorPartnerSourcesPublicationsLink
BMR1B_HUMANGDF5_HUMANBioGRID, HPRD, MINT, UniProt11282024 16127465 19229295 9525338 details
BMR1B_HUMANBMP2_HUMANBioGRID, HPRD, MINT10712517 15064755 18070108 19229295 7811286 9872992 details
BMR1B_HUMANGDF6_HUMANBioGRID, HPRD9525338 details
BMR1B_HUMANBMP7_HUMANBioGRID, HPRD18070108 8006002 8605097 details
BMR1B_HUMANBMP4_HUMANBioGRID, HPRD11282024 7811286 8006002 8702914 details
BMR1B_HUMANBAMBI_HUMANBioGRID19758997 details
BMR1B_HUMANA4_HUMANBioGRID21832049 details
BMR1B_HUMANOTUB1_HUMANBioGRID25872870 details
BMR1B_HUMANBMP6_HUMANBioGRID, HPRD10504300 11401330 18070108 details
BMR1B_HUMANBMPR2_HUMANBioGRID, HPRD10712517 7791754 details
BMR1B_HUMANBMR1A_HUMANBioGRID, HPRD10712517 details
BMR1B_HUMANBMR1B_HUMANBioGRID, HPRD10712517 7811286 details
BMR1B_HUMANSNX6_HUMANBioGRID, HPRD11279102 details
BMR1B_HUMANTRAF6_HUMANBioGRID, HPRD18758450 details
BMR1B_HUMANXIAP_HUMANBioGRID19782107 details
BMR1B_HUMANT22D1_HUMANBioGRID21791611 details
BMR1B_HUMANIGSF1_HUMANBioGRID11266516 details
BMR1B_HUMANSMUF1_HUMANBioGRID12857866 details
BMR1B_HUMANSMAD6_HUMANBioGRID, HPRD11483516 15761153 9436979 details
BMR1B_HUMANPEG10_HUMANBioGRID15611116 details
BMR1B_HUMANUBP15_HUMANBioGRID24850914 details
BMR1B_HUMANRGMB_HUMANBioGRID15671031 details
BMR1B_HUMANTGFR1_HUMANHPRD11420127 details
BMR1B_HUMANAMHR2_HUMANHPRD11420127 details
BMR1B_HUMANGDF9_HUMANHPRD12135884 details
BMR1B_HUMANSTABP_HUMANHPRD11483516 details
BMR1B_HUMANARHG6_HUMANHPRD15761153 details
BMR1B_HUMANCDK4_HUMANHPRD15761153 details
BMR1B_HUMANCHIN_HUMANHPRD15761153 details
BMR1B_HUMANFANCL_HUMANHPRD15761153 details
BMR1B_HUMANDCAF6_HUMANHPRD15761153 details
BMR1B_HUMANKLHL1_HUMANHPRD15761153 details
BMR1B_HUMANLZTR1_HUMANHPRD15761153 details
BMR1B_HUMANKBRS1_HUMANHPRD15761153 details
BMR1B_HUMANOXSR1_HUMANHPRD15761153 details
BMR1B_HUMANPAK1_HUMANHPRD15761153 details
BMR1B_HUMANCDK14_HUMANHPRD15761153 details
BMR1B_HUMANPKHB1_HUMANHPRD15761153 details
BMR1B_HUMANPP2AA_HUMANHPRD15761153 details
BMR1B_HUMANPP2BC_HUMANHPRD15761153 details
BMR1B_HUMANRAB25_HUMANHPRD15761153 details
BMR1B_HUMANRAB38_HUMANHPRD15761153 details
BMR1B_HUMANRAB6B_HUMANHPRD15761153 details
BMR1B_HUMANRAN_HUMANHPRD15761153 details
BMR1B_HUMANRAP2A_HUMANHPRD15761153 details
BMR1B_HUMANRHES_HUMANHPRD15761153 details
BMR1B_HUMANRASLC_HUMANHPRD15761153 details
BMR1B_HUMANREBL1_HUMANHPRD15761153 details
BMR1B_HUMANRHOD_HUMANHPRD15761153 details
BMR1B_HUMANRHOJ_HUMANHPRD15761153 details
BMR1B_HUMANRS27A_HUMANHPRD15761153 details
BMR1B_HUMANRRAS2_HUMANHPRD15761153 details
BMR1B_HUMANSH3K1_HUMANHPRD15761153 details
BMR1B_HUMANSMAD7_HUMANHPRD15761153 details
BMR1B_HUMANSOCS6_HUMANHPRD15761153 details
BMR1B_HUMANSQSTM_HUMANHPRD15761153 details
BMR1B_HUMANSRGP1_HUMANHPRD15761153 details
BMR1B_HUMANSTK35_HUMANHPRD15761153 details
BMR1B_HUMANCHIP_HUMANHPRD15761153 details
BMR1B_HUMANTNNT1_HUMANHPRD15761153 details
BMR1B_HUMANTTC17_HUMANHPRD15761153 details
BMR1B_HUMANRL40_HUMANHPRD15761153 details
BMR1B_HUMANUBP45_HUMANHPRD15761153 details
BMR1B_HUMANMELT_HUMANHPRD15761153 details
BMR1B_HUMANDCA12_HUMANHPRD15761153 details
BMR1B_HUMANDCAF7_HUMANHPRD15761153 details
BMR1B_HUMANBMP15_HUMANHPRD12419820 details
BMR1B_HUMANSG196_HUMANHPRD15761153 details
BMR1B_HUMANTTC27_HUMANHPRD15761153 details
BMR1B_HUMANUBE2Z_HUMANHPRD15761153 details
BMR1B_HUMANSASH3_HUMANHPRD15761153 details
BMR1B_HUMANUBXN1_HUMANHPRD15761153 details