Version: 8.0.0
Date: Tue Jan 28 2025
TGFBR1
Homo sapiensHGNC:11772
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TGFBR1

Species
Homo sapiens
Symbol
TGFBR1
Name
transforming growth factor beta receptor 1
Synonyms
  • AAT5
  • activin A receptor type II-like kinase, 53kD
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP binding activity; I-SMAD binding activity; and transforming growth factor beta receptor activity, type I. Contributes to transforming growth factor beta binding activity. Involved in several processes, including myofibroblast differentiation; regulation of macromolecule metabolic process; and regulation of signal transduction. Located in several cellular components, including bicellular tight junction; cell surface; and membrane raft. Part of transforming growth factor beta ligand-receptor complex. Implicated in Loeys-Dietz syndrome 1; Lynch syndrome; carcinoma (multiple); colorectal cancer; and urinary bladder cancer.
RGD Description
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 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
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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    Has Phenotype Annotations
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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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

          TGFBR1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            TGFBR1 role
            TGFBR1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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