Bone morphogenetic protein receptor type-1A

Details

Name

Bone morphogenetic protein receptor type-1A

Synonyms

• 2.7.11.30
• Activin receptor-like kinase 3
• ACVRLK3
• ALK-3
• ALK3
• BMP type-1A receptor
• Serine/threonine-protein kinase receptor R5
• SKR5

Gene Name

BMPR1A

Organism

Humans

Amino acid sequence

>lcl|BSEQ0051546|Bone morphogenetic protein receptor type-1A
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLK
CYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRR
TIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYC
KSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAH
RDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKN
HFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI

Number of residues

532

Molecular Weight

60196.915

Theoretical pI

Not Available

GO Classification

Functions

ATP binding / BMP receptor activity / metal ion binding / protein homodimerization activity / protein serine/threonine kinase activity / RNA polymerase II transcription factor activity, sequence-specific DNA binding / signal transducer, downstream of receptor, with serine/threonine kinase activity / SMAD binding / transmembrane receptor protein serine/threonine kinase activity

Processes

BMP signaling pathway / BMP signaling pathway involved in heart development / cardiac conduction system development / cardiac right ventricle morphogenesis / cellular response to BMP stimulus / chondrocyte differentiation / developmental growth / dorsal aorta morphogenesis / dorsal/ventral axis specification / ectoderm development / embryonic digit morphogenesis / embryonic organ development / endocardial cushion formation / endocardial cushion morphogenesis / fibrous ring of heart morphogenesis / heart formation / hindlimb morphogenesis / immune response / in utero embryonic development / lateral mesoderm development / lung development / mesendoderm development / mesoderm formation / mitral valve morphogenesis / Mullerian duct regression / negative regulation of neurogenesis / negative regulation of smooth muscle cell migration / neural crest cell development / neural plate mediolateral regionalization / odontogenesis of dentin-containing tooth / outflow tract morphogenesis / outflow tract septum morphogenesis / palate development / paraxial mesoderm structural organization / pharyngeal arch artery morphogenesis / pituitary gland development / positive regulation of bone mineralization / positive regulation of cardiac muscle cell proliferation / positive regulation of cardiac ventricle development / positive regulation of epithelial cell proliferation / positive regulation of mesenchymal cell proliferation / positive regulation of osteoblast differentiation / positive regulation of pathway-restricted SMAD protein phosphorylation / positive regulation of pri-miRNA transcription from RNA polymerase II promoter / positive regulation of SMAD protein import into nucleus / positive regulation of transcription from RNA polymerase II promoter / positive regulation of vascular smooth muscle cell proliferation / protein phosphorylation / regulation of cardiac muscle cell proliferation / regulation of cellular senescence / regulation of lateral mesodermal cell fate specification / somitogenesis / stem cell population maintenance / transforming growth factor beta receptor signaling pathway / tricuspid valve morphogenesis / ventricular compact myocardium morphogenesis / ventricular trabecula myocardium morphogenesis

Components

dendrite / external side of plasma membrane / HFE-transferrin receptor complex / integral component of membrane / neuronal cell body / plasma membrane

General Function

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. Mediates induction of adipogenesis by GDF6.

Specific Function

Atp binding

Pfam Domain Function

• PK_Tyr_Ser-Thr (PF07714)
• Activin_recp (PF01064)
• TGF_beta_GS (PF08515)

Transmembrane Regions

153-176

Cellular Location

Membrane

Gene sequence

>lcl|BSEQ0051547|Bone morphogenetic protein receptor type-1A (BMPR1A)
ATGCCTCAGCTATACATTTACATCAGATTATTGGGAGCCTATTTGTTCATCATTTCTCGT
GTTCAAGGACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGAC
CAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAG
TGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATAACTAATGGA
CATTGCTTTGCCATCATAGAAGAAGATGACCAGGGAGAAACCACATTAGCTTCAGGGTGT
ATGAAATATGAAGGATCTGATTTTCAGTGCAAAGATTCTCCAAAAGCCCAGCTACGCCGG
ACAATAGAATGTTGTCGGACCAATTTATGTAACCAGTATTTGCAACCCACACTGCCCCCT
GTTGTCATAGGTCCGTTTTTTGATGGCAGCATTCGATGGCTGGTTTTGCTCATTTCTATG
GCTGTCTGCATAATTGCTATGATCATCTTCTCCAGCTGCTTTTGTTACAAACATTATTGC
AAGAGCATCTCAAGCAGACGTCGTTACAATCGTGATTTGGAACAGGATGAAGCATTTATT
CCAGTTGGAGAATCACTAAAAGACCTTATTGACCAGTCACAAAGTTCTGGTAGTGGGTCT
GGACTACCTTTATTGGTTCAGCGAACTATTGCCAAACAGATTCAGATGGTCCGGCAAGTT
GGTAAAGGCCGATATGGAGAAGTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTG
AAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACT
GTGCTAATGCGCCATGAAAACATACTTGGTTTCATAGCGGCAGACATTAAAGGTACAGGT
TCCTGGACTCAGCTCTATTTGATTACTGATTACCATGAAAATGGATCTCTCTATGACTTC
CTGAAATGTGCTACACTGGACACCAGAGCCCTGCTTAAATTGGCTTATTCAGCTGCCTGT
GGTCTGTGCCACCTGCACACAGAAATTTATGGCACCCAAGGAAAGCCCGCAATTGCTCAT
CGAGACCTAAAGAGCAAAAACATCCTCATCAAGAAAAATGGGAGTTGCTGCATTGCTGAC
CTGGGCCTTGCTGTTAAATTCAACAGTGACACAAATGAAGTTGATGTGCCCTTGAATACC
AGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAAC
CACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATG
GCTCGTCGTTGTATCACAGGAGGGATCGTGGAAGAATACCAATTGCCATATTACAACATG
GTACCGAGTGATCCGTCATACGAAGATATGCGTGAGGTTGTGTGTGTCAAACGTTTGCGG
CCAATTGTGTCTAATCGGTGGAACAGTGATGAATGTCTACGAGCAGTTTTGAAGCTAATG
TCAGAATGCTGGGCCCACAATCCAGCCTCCAGACTCACAGCATTGAGAATTAAGAAGACG
CTTGCCAAGATGGTTGAATCCCAAGATGTAAAAATCTGA

Chromosome Location

10

Locus

10q23.2

External Identifiers

Resource	Link
UniProtKB ID	P36894
UniProtKB Entry Name	BMR1A_HUMAN
HGNC ID	HGNC:1076

General References

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4. Mahlawat P, Ilangovan U, Biswas T, Sun LZ, Hinck AP: Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties. Biochemistry. 2012 Aug 14;51(32):6328-41. Epub 2012 Aug 2. [Article]
5. Degenkolbe E, Konig J, Zimmer J, Walther M, Reissner C, Nickel J, Ploger F, Raspopovic J, Sharpe J, Dathe K, Hecht JT, Mundlos S, Doelken SC, Seemann P: A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3. [Article]
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8. Klages J, Kotzsch A, Coles M, Sebald W, Nickel J, Muller T, Kessler H: The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding. Biochemistry. 2008 Nov 18;47(46):11930-9. doi: 10.1021/bi801059j. Epub 2008 Oct 21. [Article]
9. Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C: Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet. 2001 Oct;69(4):704-11. Epub 2001 Aug 30. [Article]
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14. Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY: Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet. 2006 Mar;43(3):e13. [Article]
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Drug Relations

Drug Relations

DrugBank ID	Name	Drug group	Pharmacological action?	Actions	Details
DB11639	Dibotermin alfa	approved, investigational	yes	ligand	Details