BMPR1A | ENSG00000107779 | NCBI 657

Details for: BMPR1A

Gene ID: 657

Symbol: BMPR1A

Ensembl ID: ENSG00000107779

Description: bone morphogenetic protein receptor type 1A

Associated with

Signaling by bmp
(R-HSA-201451)
Signaling by tgfb family members
(R-HSA-9006936)
Signal transduction
(R-HSA-162582)
Angiogenesis
(GO:0001525)
Atp binding
(GO:0005524)
Atrioventricular node cell development
(GO:0060928)
Atrioventricular valve development
(GO:0003171)
Bmp binding
(GO:0036122)
Bmp receptor activity
(GO:0098821)
Bmp signaling pathway
(GO:0030509)
Cardiac conduction system development
(GO:0003161)
Cardiac right ventricle morphogenesis
(GO:0003215)
Caveola
(GO:0005901)
Cellular response to bmp stimulus
(GO:0071773)
Cellular response to growth factor stimulus
(GO:0071363)
Central nervous system neuron differentiation
(GO:0021953)
Chondrocyte differentiation
(GO:0002062)
Dendrite
(GO:0030425)
Developmental growth
(GO:0048589)
Dorsal/ventral axis specification
(GO:0009950)
Dorsal/ventral pattern formation
(GO:0009953)
Dorsal aorta morphogenesis
(GO:0035912)
Ectoderm development
(GO:0007398)
Embryonic digit morphogenesis
(GO:0042733)
Embryonic organ development
(GO:0048568)
Endocardial cushion formation
(GO:0003272)
Endocardial cushion morphogenesis
(GO:0003203)
Epithelial cell proliferation
(GO:0050673)
External side of plasma membrane
(GO:0009897)
Fibrous ring of heart morphogenesis
(GO:1905285)
Heart formation
(GO:0060914)
Hfe-transferrin receptor complex
(GO:1990712)
Hindlimb morphogenesis
(GO:0035137)
Immune response
(GO:0006955)
In utero embryonic development
(GO:0001701)
Lateral mesoderm development
(GO:0048368)
Lung development
(GO:0030324)
Membrane
(GO:0016020)
Mesendoderm development
(GO:0048382)
Mesoderm formation
(GO:0001707)
Metal ion binding
(GO:0046872)
Mitral valve morphogenesis
(GO:0003183)
Mullerian duct regression
(GO:0001880)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of muscle cell differentiation
(GO:0051148)
Negative regulation of neurogenesis
(GO:0050768)
Negative regulation of smooth muscle cell migration
(GO:0014912)
Neural crest cell development
(GO:0014032)
Neural plate mediolateral regionalization
(GO:0021998)
Neuronal cell body
(GO:0043025)
Odontogenesis of dentin-containing tooth
(GO:0042475)
Osteoblast differentiation
(GO:0001649)
Outflow tract morphogenesis
(GO:0003151)
Outflow tract septum morphogenesis
(GO:0003148)
Paraxial mesoderm structural organization
(GO:0048352)
Pharyngeal arch artery morphogenesis
(GO:0061626)
Phosphorylation
(GO:0016310)
Pituitary gland development
(GO:0021983)
Plasma membrane
(GO:0005886)
Positive regulation of bone mineralization
(GO:0030501)
Positive regulation of cardiac muscle cell proliferation
(GO:0060045)
Positive regulation of cardiac ventricle development
(GO:1904414)
Positive regulation of epithelial cell proliferation
(GO:0050679)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of mesenchymal cell proliferation
(GO:0002053)
Positive regulation of mirna transcription
(GO:1902895)
Positive regulation of osteoblast differentiation
(GO:0045669)
Positive regulation of smad protein signal transduction
(GO:0060391)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Positive regulation of transforming growth factor beta2 production
(GO:0032915)
Positive regulation of vascular associated smooth muscle cell proliferation
(GO:1904707)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Protein phosphorylation
(GO:0006468)
Protein serine/threonine kinase activity
(GO:0004674)
Receptor complex
(GO:0043235)
Regulation of cardiac muscle cell apoptotic process
(GO:0010665)
Regulation of cardiac muscle cell proliferation
(GO:0060043)
Regulation of cellular senescence
(GO:2000772)
Regulation of lateral mesodermal cell fate specification
(GO:0048378)
Regulation of neural crest cell differentiation
(GO:1905292)
Roof of mouth development
(GO:0060021)
Smad binding
(GO:0046332)
Somatic stem cell population maintenance
(GO:0035019)
Somitogenesis
(GO:0001756)
Transforming growth factor beta receptor activity, type i
(GO:0005025)
Transforming growth factor beta receptor signaling pathway
(GO:0007179)
Transmembrane receptor protein serine/threonine kinase activity
(GO:0004675)
Tricuspid valve morphogenesis
(GO:0003186)
Ventricular compact myocardium morphogenesis
(GO:0003223)
Ventricular septum morphogenesis
(GO:0060412)
Ventricular trabecula myocardium morphogenesis
(GO:0003222)

Other Information

Proteins

Bone morphogenetic protein receptor type-1A

Genular Protein ID: 818567009

Symbol: BMR1A_HUMAN

Name: Bone morphogenetic protein receptor type-1A

UniProtKB Accession Codes:

P36894 A8K6U9 Q8NEN8

Database IDs:

Citations:

PubMed ID: 8397373

Title: Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.

PubMed ID: 8397373

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8006002

Title: Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4.

PubMed ID: 8006002

DOI: 10.1016/s0021-9258(17)32506-1

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 22799562

Title: Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.

PubMed ID: 22799562

DOI: 10.1021/bi300942x

PubMed ID: 24098149

Title: A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PubMed ID: 24098149

DOI: 10.1371/journal.pgen.1003846

PubMed ID: 31800957

Title: Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3.

PubMed ID: 31800957

DOI: 10.1182/blood.2019002620

PubMed ID: 33308444

Title: SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

PubMed ID: 33308444

DOI: 10.1016/j.ajhg.2020.11.015

PubMed ID: 10881198

Title: Crystal structure of the BMP-2-BRIA ectodomain complex.

PubMed ID: 10881198

DOI: 10.1038/75903

PubMed ID: 15064755

Title: Molecular recognition of BMP-2 and BMP receptor IA.

PubMed ID: 15064755

DOI: 10.1038/nsmb756

PubMed ID: 17295905

Title: A silent H-bond can be mutationally activated for high-affinity interaction of BMP-2 and activin type IIB receptor.

PubMed ID: 17295905

DOI: 10.1186/1472-6807-7-6

PubMed ID: 11381269

Title: Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

PubMed ID: 11381269

DOI: 10.1038/88919

PubMed ID: 18937504

Title: The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding.

PubMed ID: 18937504

DOI: 10.1021/bi801059j

PubMed ID: 11536076

Title: Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

PubMed ID: 11536076

DOI: 10.1086/323703

PubMed ID: 12417513

Title: Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

PubMed ID: 12417513

DOI: 10.1007/bf02557528

PubMed ID: 12136244

Title: Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

PubMed ID: 12136244

DOI: 10.1007/s00439-002-0748-9

PubMed ID: 12630959

Title: Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.

PubMed ID: 12630959

DOI: 10.1034/j.1399-0004.2003.00008.x

PubMed ID: 16685657

Title: Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

PubMed ID: 16685657

DOI: 10.1086/504301

PubMed ID: 16525031

Title: 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.

PubMed ID: 16525031

DOI: 10.1136/jmg.2005.034827

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 25860647

Title: A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.

PubMed ID: 25860647

DOI: 10.1007/s10689-015-9803-2

Sequence Information:

Length: 532
Mass: 60198
Checksum: 00CE2DDDA3A44170
Sequence:

MPQLYIYIRL LGAYLFIISR VQGQNLDSML HGTGMKSDSD QKKSENGVTL APEDTLPFLK 
CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLASGC MKYEGSDFQC KDSPKAQLRR 
TIECCRTNLC NQYLQPTLPP VVIGPFFDGS IRWLVLLISM AVCIIAMIIF SSCFCYKHYC 
KSISSRRRYN RDLEQDEAFI PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV 
GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG 
SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY GTQGKPAIAH 
RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDVPLNT RVGTKRYMAP EVLDESLNKN 
HFQPYIMADI YSFGLIIWEM ARRCITGGIV EEYQLPYYNM VPSDPSYEDM REVVCVKRLR 
PIVSNRWNSD ECLRAVLKLM SECWAHNPAS RLTALRIKKT LAKMVESQDV KI

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: BMPR1A

Associated with

Other Information

Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. PubMed ID: 8397373

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4. PubMed ID: 8006002

TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity. PubMed ID: 21791611

Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties. PubMed ID: 22799562

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. PubMed ID: 24098149

Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3. PubMed ID: 31800957

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. PubMed ID: 33308444

Crystal structure of the BMP-2-BRIA ectodomain complex. PubMed ID: 10881198

Molecular recognition of BMP-2 and BMP receptor IA. PubMed ID: 15064755

A silent H-bond can be mutationally activated for high-affinity interaction of BMP-2 and activin type IIB receptor. PubMed ID: 17295905

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. PubMed ID: 11381269

The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding. PubMed ID: 18937504

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. PubMed ID: 11536076

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. PubMed ID: 12417513

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. PubMed ID: 12136244

Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. PubMed ID: 12630959

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. PubMed ID: 16685657

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. PubMed ID: 16525031

Patterns of somatic mutation in human cancer genomes. PubMed ID: 17344846

A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. PubMed ID: 25860647