ENSG00000107779


Homo sapiens

Features
Gene ID: ENSG00000107779
  
Biological name :BMPR1A
  
Synonyms : BMPR1A / bone morphogenetic protein receptor type 1A / P36894
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q23.2
Gene start: 86756601
Gene end: 86932838
  
Corresponding Affymetrix probe sets: 204832_s_at (Human Genome U133 Plus 2.0 Array)   213578_at (Human Genome U133 Plus 2.0 Array)   227273_at (Human Genome U133 Plus 2.0 Array)   230979_at (Human Genome U133 Plus 2.0 Array)   242731_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000490273
Ensembl peptide - ENSP00000492290
Ensembl peptide - ENSP00000361107
Ensembl peptide - ENSP00000483569
Ensembl peptide - ENSP00000489707
NCBI entrez gene - 657     See in Manteia.
OMIM - 601299
RefSeq - NM_004329
RefSeq - XM_011540103
RefSeq - XM_011540104
RefSeq Peptide - NP_004320
swissprot - A0A087X0P8
swissprot - P36894
Ensembl - ENSG00000107779
  
Related genetic diseases (OMIM): 174900 - Juvenile polyposis syndrome, infantile form, 174900
  610069 - Polyposis syndrome, hereditary mixed, 2, 610069
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bmpr1aaENSDARG00000019728Danio rerio
 bmpr1abENSDARG00000105045Danio rerio
 BMPR1AENSGALG00000002003Gallus gallus
 Bmpr1aENSMUSG00000021796Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BMPR1B / O00238 / bone morphogenetic protein receptor type 1BENSG0000013869669
P36897 / TGFBR1 / transforming growth factor beta receptor 1ENSG0000010679948
ACVR1C / Q8NER5 / activin A receptor type 1CENSG0000012361246
ACVR1B / P36896 / activin A receptor type 1BENSG0000013550346
ACVR1 / Q04771 / activin A receptor type 1ENSG0000011517045
ACVRL1 / P37023 / activin A receptor like type 1ENSG0000013956743
ACVR2A / P27037 / activin A receptor type 2AENSG0000012198928
P37173 / TGFBR2 / transforming growth factor beta receptor 2ENSG0000016351326
BMPR2 / Q13873 / bone morphogenetic protein receptor type 2ENSG0000020421725
ACVR2B / Q13705 / activin A receptor type 2BENSG0000011473925
AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2ENSG0000013540923


Protein motifs (from Interpro)
Interpro ID Name
 IPR000333  Ser/Thr protein kinase, TGFB receptor
 IPR000472  Activin types I and II receptor domain
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR003605  GS domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001707 mesoderm formation IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001880 Mullerian duct regression IEA
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IEA
 biological_processGO:0002062 chondrocyte differentiation IEA
 biological_processGO:0003007 heart morphogenesis IEA
 biological_processGO:0003148 outflow tract septum morphogenesis ISS
 biological_processGO:0003151 outflow tract morphogenesis ISS
 biological_processGO:0003161 cardiac conduction system development ISS
 biological_processGO:0003183 mitral valve morphogenesis ISS
 biological_processGO:0003186 tricuspid valve morphogenesis ISS
 biological_processGO:0003203 endocardial cushion morphogenesis ISS
 biological_processGO:0003215 cardiac right ventricle morphogenesis ISS
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis ISS
 biological_processGO:0003223 ventricular compact myocardium morphogenesis ISS
 biological_processGO:0003272 endocardial cushion formation ISS
 biological_processGO:0006468 protein phosphorylation IDA
 biological_processGO:0006955 immune response IMP
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0007398 ectoderm development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0009950 dorsal/ventral axis specification IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0009953 dorsal/ventral pattern formation IEA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA
 biological_processGO:0014032 neural crest cell development IEA
 biological_processGO:0014912 negative regulation of smooth muscle cell migration IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019827 stem cell population maintenance IEA
 biological_processGO:0021983 pituitary gland development IEA
 biological_processGO:0021998 neural plate mediolateral regionalization IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030501 positive regulation of bone mineralization IMP
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0035137 hindlimb morphogenesis IEA
 biological_processGO:0035912 dorsal aorta morphogenesis ISS
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0042733 embryonic digit morphogenesis IEA
 biological_processGO:0045669 positive regulation of osteoblast differentiation IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0048339 paraxial mesoderm development IEA
 biological_processGO:0048352 paraxial mesoderm structural organization IEA
 biological_processGO:0048368 lateral mesoderm development IEA
 biological_processGO:0048378 regulation of lateral mesodermal cell fate specification IEA
 biological_processGO:0048382 mesendoderm development IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048589 developmental growth IEA
 biological_processGO:0048598 embryonic morphogenesis IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0050768 negative regulation of neurogenesis IEA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060043 regulation of cardiac muscle cell proliferation ISS
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation ISS
 biological_processGO:0060391 positive regulation of SMAD protein signal transduction IDA
 biological_processGO:0060896 neural plate pattern specification IEA
 biological_processGO:0060914 heart formation IEA
 biological_processGO:0061312 BMP signaling pathway involved in heart development IC
 biological_processGO:0061626 pharyngeal arch artery morphogenesis ISS
 biological_processGO:0071773 cellular response to BMP stimulus IMP
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IEA
 biological_processGO:1904414 positive regulation of cardiac ventricle development ISS
 biological_processGO:1904707 positive regulation of vascular smooth muscle cell proliferation IMP
 biological_processGO:1905285 fibrous ring of heart morphogenesis ISS
 biological_processGO:2000772 regulation of cellular senescence IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005901 caveola IMP
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:1990712 HFE-transferrin receptor complex IC
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IDA
 molecular_functionGO:0004675 transmembrane receptor protein serine/threonine kinase activity TAS
 molecular_functionGO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046332 SMAD binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0098821 BMP receptor activity ISS


Pathways (from Reactome)
Pathway description
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001217 Clubbing "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001903 Anemia 
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 HP:0002027 Abdominal pain 
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 HP:0002035 Rectal prolapse 
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 HP:0002573 Hematochezia 
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 HP:0002576 Intussusception 
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 HP:0002900 Hypokalemia 
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 HP:0003003 Colon cancer 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0004394 Multiple gastric polyps 
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 HP:0005227 Multiple adenomatous colon polyps 
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 HP:0006771 Duodenal carcinoma 
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 HP:0012183 Hyperplastic colonic polyposis "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [HPO:probinson]
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 HP:0012198 Juvenile colonic polyposis "The presence of more than 5 juvenile polyps of the colon." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / complex / reaction
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / complex / reaction
 ENSG00000039319 Q7Z3T8 / ZFYVE16 / zinc finger FYVE-type containing 16  / complex / reaction
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / complex / reaction
 ENSG00000204217 BMPR2 / Q13873 / bone morphogenetic protein receptor type 2  / complex / reaction
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / reaction / complex
 ENSG00000198742 Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1  / complex / reaction
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / reaction / complex
 ENSG00000137834 SMAD6 / O43541 / SMAD family member 6  / complex / reaction
 ENSG00000107779 BMPR1A / P36894 / bone morphogenetic protein receptor type 1A  / complex / reaction
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / complex / reaction
 ENSG00000125845 BMP2 / P12643 / bone morphogenetic protein 2  / reaction / complex
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / complex / reaction
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / reaction / complex






 

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