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    Tgfbr1 transforming growth factor, beta receptor I [ Mus musculus (house mouse) ]

    Gene ID: 21812, updated on 22-Aug-2021

    Summary

    Official Symbol
    Tgfbr1provided by MGI
    Official Full Name
    transforming growth factor, beta receptor Iprovided by MGI
    Primary source
    MGI:MGI:98728
    See related
    Ensembl:ENSMUSG00000007613
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AL; Alk; ALK5; ESK2; Tbet; Alk-5; Tbeta; TGFR-1; TbetaRI; AU017191; TbetaR-I
    Summary
    This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
    Expression
    Broad expression in CNS E11.5 (RPKM 19.6), placenta adult (RPKM 12.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Tgfbr1 in Genome Data Viewer
    Location:
    4 B1; 4 26.02 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (47353222..47414926)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (47353222..47414926)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (47366177..47427796)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene collagen, type XV, alpha 1 Neighboring gene predicted gene, 52732 Neighboring gene predicted gene, 42282 Neighboring gene predicted gene, 32435 Neighboring gene microfibrillar-associated protein 1B pseudogene Neighboring gene asparagine-linked glycosylation 2 (alpha-1,3-mannosyltransferase)

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables I-SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables activin receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to growth factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to transforming growth factor beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta-activated receptor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    contributes_to transforming growth factor beta-activated receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta-activated receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane receptor protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables type II transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in angiogenesis involved in coronary vascular morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blastocyst development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell motility ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in coronary artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryo development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epicardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within germ cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within kidney development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endothelial cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of endothelial cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of pri-miRNA transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within neuron fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within parathyroid gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pathway-restricted SMAD protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-serine phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-threonine phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of positive regulation of MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cellular component movement ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of pri-miRNA transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein kinase B signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of stress fiber assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of tight junction disassembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in proepicardium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein autophosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cardiac muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to cholesterol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to estrogen ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within roof of mouth development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within skeletal system development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within thymus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transmembrane receptor protein serine/threonine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular compact myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular trabecula myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in bicellular tight junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in caveola ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    TGF-beta receptor type-1
    Names
    TGF-beta receptor type I
    transforming growth factor-beta receptor type I
    NP_001299797.1
    NP_001299798.1
    NP_033396.1
    XP_030109257.1
    XP_036019848.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001312868.1NP_001299797.1  TGF-beta receptor type-1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC063260, BY200044, CK637995
      Consensus CDS
      CCDS84728.1
      UniProtKB/Swiss-Prot
      Q64729
      Related
      ENSMUSP00000048501.8, ENSMUST00000044234.14
      Conserved Domains (4) summary
      cd14143
      Location:205492
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:30110
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:201488
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:172199
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. NM_001312869.1NP_001299798.1  TGF-beta receptor type-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start site compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK015337, BC063260
      Consensus CDS
      CCDS84729.1
      UniProtKB/Swiss-Prot
      Q64729
      UniProtKB/TrEMBL
      Q9D5H8
      Related
      ENSMUSP00000103353.3, ENSMUST00000107725.3
      Conserved Domains (3) summary
      cd14143
      Location:126413
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam07714
      Location:122409
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:93120
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    3. NM_009370.3NP_033396.1  TGF-beta receptor type-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_033396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC063260, BY200044
      Consensus CDS
      CCDS18160.1
      UniProtKB/Swiss-Prot
      Q64729
      UniProtKB/TrEMBL
      Q4FJL1
      Related
      ENSMUSP00000007757.9, ENSMUST00000007757.15
      Conserved Domains (4) summary
      cd14143
      Location:209496
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:30110
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:205492
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:176203
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      47353222..47414926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030253397.1XP_030109257.1  TGF-beta receptor type-1 isoform X2

      Related
      ENSMUSP00000123761.2, ENSMUST00000126171.9
      Conserved Domains (2) summary
      cd14143
      Location:144431
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam08515
      Location:111138
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. XM_036163955.1XP_036019848.1  TGF-beta receptor type-1 isoform X1

      Conserved Domains (3) summary
      cd14143
      Location:250537
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:82147
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:217244
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
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