Details for: BMPR1A

Gene ID: 657

Symbol: BMPR1A

Ensembl ID: ENSG00000107779

Description: bone morphogenetic protein receptor type 1A

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.46
    Marker Score: 7600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3
    Marker Score: 67115
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.99
    Marker Score: 2397
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.88
    Marker Score: 61498
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.83
    Marker Score: 11825.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.65
    Marker Score: 774
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.62
    Marker Score: 828
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.44
    Marker Score: 2105
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.41
    Marker Score: 1584
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 2.29
    Marker Score: 9532
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.25
    Marker Score: 2593
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.21
    Marker Score: 4258
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.18
    Marker Score: 2634
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.09
    Marker Score: 7414
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.05
    Marker Score: 75537
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.04
    Marker Score: 77525
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.02
    Marker Score: 998
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2
    Marker Score: 2497
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.94
    Marker Score: 8033
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.91
    Marker Score: 1325
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.9
    Marker Score: 1061
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.88
    Marker Score: 33302
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.87
    Marker Score: 1779
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.86
    Marker Score: 2053
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.85
    Marker Score: 2489
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.84
    Marker Score: 27533
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.83
    Marker Score: 989
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.82
    Marker Score: 7427.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.82
    Marker Score: 36255
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.82
    Marker Score: 1020
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.81
    Marker Score: 1053
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.8
    Marker Score: 13834
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.79
    Marker Score: 6930
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.76
    Marker Score: 16526
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.74
    Marker Score: 727
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.73
    Marker Score: 16484
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.73
    Marker Score: 17856
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.71
    Marker Score: 105257
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.7
    Marker Score: 996
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.7
    Marker Score: 1469
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.69
    Marker Score: 9087
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.66
    Marker Score: 14289
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.61
    Marker Score: 3865
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.56
    Marker Score: 1383
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.56
    Marker Score: 8160
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.55
    Marker Score: 1193
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.53
    Marker Score: 2362
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.52
    Marker Score: 482
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.5
    Marker Score: 50660
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.48
    Marker Score: 1216
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.47
    Marker Score: 23673
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.47
    Marker Score: 374
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.47
    Marker Score: 6795
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.47
    Marker Score: 1104
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.46
    Marker Score: 1571
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.46
    Marker Score: 4151.5
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.42
    Marker Score: 2392
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.38
    Marker Score: 729
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.38
    Marker Score: 3456
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.33
    Marker Score: 364
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.32
    Marker Score: 736
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.31
    Marker Score: 4405
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.31
    Marker Score: 652.5
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.31
    Marker Score: 863
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.31
    Marker Score: 20457
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.31
    Marker Score: 759
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.29
    Marker Score: 1462
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.29
    Marker Score: 477
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.29
    Marker Score: 471
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.29
    Marker Score: 3028
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.26
    Marker Score: 2885
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.25
    Marker Score: 325
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.23
    Marker Score: 715
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.22
    Marker Score: 444
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.22
    Marker Score: 1511
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.21
    Marker Score: 457
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.18
    Marker Score: 452
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.17
    Marker Score: 8834
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.13
    Marker Score: 583
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.12
    Marker Score: 2644
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.12
    Marker Score: 294
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.11
    Marker Score: 379
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.11
    Marker Score: 1340
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.1
    Marker Score: 697
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.07
    Marker Score: 513
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.04
    Marker Score: 395
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.02
    Marker Score: 3328
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.01
    Marker Score: 2058
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.01
    Marker Score: 1432
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1
    Marker Score: 6452
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71754
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47979
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.99
    Marker Score: 1387
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 495
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 449
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.93
    Marker Score: 1516
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.93
    Marker Score: 347.5
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.93
    Marker Score: 267

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Other Information

**Key characteristics:** - BMPR1A is a type I transmembrane receptor protein that belongs to the BMP receptor family. - It is a highly conserved protein with a conserved extracellular domain and a cytoplasmic domain that contains a BMP-1 signaling domain. - It is a key regulator of cell migration, proliferation, and differentiation. **Pathways and functions:** - BMPR1A signaling is involved in various biological processes, including angiogenesis, tissue development, and cell differentiation. - In endothelial cells, it promotes angiogenesis, migration, and tube formation. - In cardiac myocytes, it regulates cardiac remodeling and contractility. - In epithelial cells, it is involved in cell migration, proliferation, and differentiation. **Clinical significance:** - Mutations in BMPR1A have been linked to several human diseases, including vascular disorders, cardiac diseases, and cancer. - Targeting BMPR1A signaling has emerged as a potential therapeutic strategy for these diseases. **Additional notes:** - BMPR1A is a highly important target for cancer immunotherapy. - It is a promising therapeutic target for various human diseases, including cancer, cardiovascular disease, and diabetes. - Further research is needed to understand the role of BMPR1A in human health and disease.

Genular Protein ID: 818567009

Symbol: BMR1A_HUMAN

Name: Bone morphogenetic protein receptor type-1A

UniProtKB Accession Codes:

P36894 A8K6U9 Q8NEN8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 DrugCentral 1 EC 3 EMBL 3 EPD 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 84 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 16 PDBsum 11 PIR 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 6 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.