Details for: BMPR1A

Gene ID: 657

Symbol: BMPR1A

Ensembl ID: ENSG00000107779

Description: bone morphogenetic protein receptor type 1A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 361.0525
    Cell Significance Index: -56.1600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 223.4634
    Cell Significance Index: -56.6800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 118.2744
    Cell Significance Index: -55.8400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 46.2009
    Cell Significance Index: -44.1100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 45.5491
    Cell Significance Index: -56.1600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.7453
    Cell Significance Index: -52.9000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.2598
    Cell Significance Index: -56.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.5332
    Cell Significance Index: -27.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 4.2759
    Cell Significance Index: 109.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.4541
    Cell Significance Index: 265.0600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.0183
    Cell Significance Index: 169.3700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.5957
    Cell Significance Index: 515.1300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.5163
    Cell Significance Index: 49.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.9371
    Cell Significance Index: 388.5900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.6507
    Cell Significance Index: 101.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4222
    Cell Significance Index: 510.1300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.2726
    Cell Significance Index: 30.5200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.2444
    Cell Significance Index: 564.7800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.1589
    Cell Significance Index: 77.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.1424
    Cell Significance Index: 43.2600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.0642
    Cell Significance Index: 29.7400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.9364
    Cell Significance Index: 20.0200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9040
    Cell Significance Index: 105.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8507
    Cell Significance Index: 37.6300
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.8210
    Cell Significance Index: 11.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8074
    Cell Significance Index: 558.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.7859
    Cell Significance Index: 1479.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7208
    Cell Significance Index: 78.4000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6309
    Cell Significance Index: 102.6100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.5256
    Cell Significance Index: 333.8200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.5221
    Cell Significance Index: 12.7400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4955
    Cell Significance Index: 12.3900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4385
    Cell Significance Index: 395.8900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4378
    Cell Significance Index: 12.6200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3988
    Cell Significance Index: 23.9400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.3783
    Cell Significance Index: 39.3900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3177
    Cell Significance Index: 14.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2760
    Cell Significance Index: 49.7600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.2743
    Cell Significance Index: 4.0500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2401
    Cell Significance Index: 16.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2121
    Cell Significance Index: 326.5100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.2040
    Cell Significance Index: 2.9300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1859
    Cell Significance Index: 22.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1731
    Cell Significance Index: 8.0700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1718
    Cell Significance Index: 93.8400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1697
    Cell Significance Index: 75.0500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1616
    Cell Significance Index: 2.7700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1530
    Cell Significance Index: 282.0800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1491
    Cell Significance Index: 1.0100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1451
    Cell Significance Index: 5.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0761
    Cell Significance Index: 103.4200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0679
    Cell Significance Index: 9.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0576
    Cell Significance Index: 7.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0524
    Cell Significance Index: 3.3000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0346
    Cell Significance Index: 0.7500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0129
    Cell Significance Index: 1.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0108
    Cell Significance Index: -1.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0429
    Cell Significance Index: -31.7800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0528
    Cell Significance Index: -38.7300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0528
    Cell Significance Index: -1.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0569
    Cell Significance Index: -1.5200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0723
    Cell Significance Index: -54.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0967
    Cell Significance Index: -54.5200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1042
    Cell Significance Index: -65.0900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.1156
    Cell Significance Index: -22.0000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1575
    Cell Significance Index: -45.3300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1688
    Cell Significance Index: -28.8200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1847
    Cell Significance Index: -5.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2303
    Cell Significance Index: -16.2900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2330
    Cell Significance Index: -2.8900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2882
    Cell Significance Index: -60.7100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3259
    Cell Significance Index: -6.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3284
    Cell Significance Index: -37.6300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3378
    Cell Significance Index: -43.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3394
    Cell Significance Index: -40.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3487
    Cell Significance Index: -16.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3731
    Cell Significance Index: -38.1100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3740
    Cell Significance Index: -6.2600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3767
    Cell Significance Index: -19.5700
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.4054
    Cell Significance Index: -4.0900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5461
    Cell Significance Index: -11.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.6006
    Cell Significance Index: -44.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6208
    Cell Significance Index: -49.1700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6364
    Cell Significance Index: -39.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6501
    Cell Significance Index: -7.7500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.6547
    Cell Significance Index: -11.3200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6633
    Cell Significance Index: -23.0500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.7074
    Cell Significance Index: -15.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7862
    Cell Significance Index: -25.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8057
    Cell Significance Index: -17.1000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8158
    Cell Significance Index: -26.7100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.8251
    Cell Significance Index: -53.2300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.8430
    Cell Significance Index: -43.9100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8436
    Cell Significance Index: -10.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.8466
    Cell Significance Index: -44.4500
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.8621
    Cell Significance Index: -8.9800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.9075
    Cell Significance Index: -18.2200
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.9215
    Cell Significance Index: -8.1800
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.9889
    Cell Significance Index: -12.6800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -1.0337
    Cell Significance Index: -20.4400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** BMPR1A is a transmembrane receptor serine/threonine kinase that belongs to the type I BMP receptor family. It consists of an extracellular domain that binds to BMPs, a transmembrane domain, and an intracellular domain that phosphorylates and activates Smad proteins. BMPR1A is characterized by its high degree of homology with other type I BMP receptors, including BMPR1B. The receptor's signaling activity is modulated by various factors, including BMPs, TGF-β, and other growth factors. **Pathways and Functions** BMPR1A plays a critical role in various signaling pathways, including: 1. **BMP Signaling Pathway**: BMPR1A mediates the signaling effects of BMPs, regulating cellular processes such as proliferation, differentiation, and apoptosis. 2. **TGF-β Signaling Pathway**: BMPR1A also participates in the TGF-β signaling pathway, influencing cellular responses to growth factors and regulating processes such as cell growth, differentiation, and survival. 3. **Cardiac Conduction System Development**: BMPR1A is involved in the development of the cardiac conduction system, regulating the formation and function of the atrioventricular node and the atrioventricular valve. 4. **Cardiac Morphogenesis**: BMPR1A plays a role in the development and morphogenesis of the heart, regulating the formation of cardiac chambers, valves, and septa. BMPR1A's functions include: 1. **Regulation of Cell Proliferation and Differentiation**: BMPR1A modulates cellular responses to BMPs and TGF-β, influencing cell proliferation, differentiation, and survival. 2. **Cardiac Muscle Cell Proliferation**: BMPR1A regulates the proliferation of cardiac muscle cells, influencing cardiac development and function. 3. **Neural Crest Cell Differentiation**: BMPR1A is involved in the differentiation of neural crest cells, which give rise to various cell types, including cardiac muscle cells and neurons. **Clinical Significance** Dysregulation of BMPR1A has been implicated in various diseases, including: 1. **Cardiovascular Disorders**: Abnormalities in BMPR1A have been associated with cardiovascular disorders, such as heart failure, arrhythmias, and cardiac valve abnormalities. 2. **Cancer**: BMPR1A is involved in the regulation of cell growth and differentiation, and its dysregulation has been implicated in cancer development and progression. 3. **Neurodevelopmental Disorders**: BMPR1A plays a critical role in neural crest cell development, and abnormalities in this gene have been associated with neurodevelopmental disorders, such as Down syndrome and Hirschsprung disease. In conclusion, BMPR1A is a crucial regulator of cellular processes, including cell proliferation, differentiation, and survival. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 818567009

Symbol: BMR1A_HUMAN

Name: Bone morphogenetic protein receptor type-1A

UniProtKB Accession Codes:

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

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.