Version: 8.0.0
Date: Tue Jan 28 2025
BMPR1A
Homo sapiensHGNC:1076
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

BMPR1A

Species
Homo sapiens
Symbol
BMPR1A
Name
bone morphogenetic protein receptor type 1A
Synonyms
  • 10q23del
  • activin A receptor, type II-like kinase 3
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP binding activity; BMP binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including positive regulation of SMAD protein signal transduction; positive regulation of osteoblast differentiation; and transforming growth factor beta receptor superfamily signaling pathway. Located in caveola and external side of plasma membrane. Implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Biomarker of pulmonary hypertension.
RGD Description
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23255
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          BMPR1A molecule type
          Interactor gene
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            Genetic Interactions

            BMPR1A role
            BMPR1A genetic perturbation
            Interactor gene
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            Phenotype or trait
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