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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TGFBR1 Gene

protein-coding   GIFtS: 74
GCID: GC09P101867

transforming growth factor, beta receptor 1

(Previous names: transforming growth factor, beta receptor I (activin A...)
 Explore 120 diseases affiliated with
TGFBR1 via
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 Human Malady Compendium 
Biological research products
for TGFBR1    

Aliases
for TGFBR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transforming Growth Factor, Beta Receptor 11 2     EC 2.7.11.303 8
ALK-51 2 3     AAT52 5
ALK52 3 5     LDS1A2 5
ACVRLK41 2     LDS2A2 5
Transforming Growth Factor, Beta Receptor I (Activin A Receptor Type II-Like
Kinase, 53kD)1 2
     MSSE2
Activin A Receptor Type II-Like Protein Kinase Of 53kD2 3     Activin A Receptor Type II-Like Kinase, 53kD2
Activin Receptor-Like Kinase 52 3     Activin A Receptor Type II-Like Kinase, 53kDa2
Serine/Threonine-Protein Kinase Receptor R42 3     TbetaR-I3
Transforming Growth Factor-Beta Receptor Type I2 3     TGF-Beta Receptor Type-12
SKR42 3     Transforming Growth Factor Beta Receptor I2
TGFR-12 3     TbetaR-I3
TGF-Beta Receptor Type I2 3     EC 2.7.118
TGF-Beta Type I Receptor2 3     

External Ids:    HGNC: 117721   Entrez Gene: 70462   Ensembl: ENSG000001067997   OMIM: 1901815   UniProtKB: P368973   

Export aliases for TGFBR1 gene to outside databases

Previous GC identifers: GC09P092667 GC09P093610 GC09P095324 GC09P097247 GC09P098946 GC09P100907 GC09P071464


Summaries
for TGFBR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TGFBR1:
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)

UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
Function: Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor,
TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2
and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and
pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell
proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and
carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound
to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2.
Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4
complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated
genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical,
SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn
results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal
transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation

summary for TGFBR1:
The transforming growth factor-beta family of polypeptides (TGF-beta1, TGF-beta2 and TGF-beta3) are involved
in the regulation of cellular processes, including cell division, differentiation, motility, adhesion and
death. TGF-beta signals by binding the TGF-beta type II receptor (TGF-betaRII) which transphosphorylates and
activates the type I receptor (TGF-betaRI). Activated TGF-betaRI then phosphorylates a subset of SMAD
proteins, Smad2 and Smad3, which translocate to the nucleus where they form transcription complexes with DNA
binding factors and co-activators/co-repressors. TGF-beta functions as a tumor suppressor by inhibiting the
cell cycle in the G1 phase. Administration of TGF-beta is able to protect against mammary tumor development
in transgenic mouse models in vivo. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety
of human cancers, with the majority of colon and gastric cancers being caused by an inactivating mutation of
TGF-betaRII. Homozygous deletions of TGF-betaRI and inactivating mutations of SMAD genes have also been
found. A pro-oncogenic role for TGF-beta has also been proposed. Once cells lose their sensitivity to
TGF-beta1-mediated growth inhibition, autocrine TGF-beta signaling can promote tumorigenesis. Elevated
levels of TGF-beta1 are often observed in advanced carcinomas, and have been correlated with increased tumor
invasiveness and disease progression.

Gene Wiki entry for TGFBR1 (TGF beta receptor 1)


Genomic Views
for TGFBR1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TGFBR1 gene promoter:
         USF1   Pbx1a   AP-1   ATF-2   USF2   USF-1:USF-2   HNF-3beta   USF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TGFBR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TGFBR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGFBR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22

TGFBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFBR1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P101867:  view genomic region     (about GC identifiers)

Start:
 101,866,320 bp from pter      End:
 101,916,474 bp from pter
Size:
 50,155 bases      Orientation:
 plus strand

Proteins
for TGFBR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897 (See protein sequence)
Recommended Name: TGF-beta receptor type-1 precursor  
Size: 503 amino acids; 55960 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: Homodimer; in the endoplasmic reticulum but also at the cell membrane. Heterohexamer; TGFB1, TGFB2 and TGFB3
homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a
ligand-receptor heterohexamer. The respective affinity of TGBRB1 and TGFBR2 for the ligands may modulate the kinetics
of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Interacts
with CD109; inhibits TGF-beta receptor activation in keratinocytes. Interacts with RBPMS. Interacts (unphosphorylated)
with FKBP1A; prevents TGFBR1 phosphorylation by TGFBR2 and stabilizes it in the inactive conformation. Interacts with
SMAD2, SMAD3 and ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor. Interacts with TRAF6 and MAP3K7;
induces MAP3K7 activation by TRAF6. Interacts with PARD6A; involved in TGF-beta induced epithelial to mesenchymal
transition. Interacts with SMAD7, NEDD4L, SMURF1 and SMURF2; SMAD7 recruits NEDD4L, SMURF1 and SMURF2 to the TGF-beta
receptor. Interacts with USP15 and VPS39
Subcellular location: Cell membrane; Single-pass type I membrane protein. Cell junction, tight junction
6/17 PDB 3D structures from and Proteopedia for TGFBR1 (see all 17):
1B6C (3D)        1IAS (3D)        1PY5 (3D)        1RW8 (3D)        1TBI (3D)        1VJY (3D)    
Secondary accessions: Q6IR47 Q706C0 Q706C1
Alternative splicing: 3 isoforms:  P36897-1   P36897-2   P36897-3   

Explore the universe of human proteins at neXtProt for TGFBR1: NX_P36897

Post-translational modifications:

  • Phosphorylated at basal levels in the absence of ligand. Activated upon phosphorylation by TGFBR2, mainly in the GS
    • domain. Phosphorylation in the GS domain abbrogates FKBP1A-binding1
  • N-Glycosylated1
  • Ubiquitinated; undergoes ubiquitination catalyzed by several E3 ubiquitin ligases including SMURF1, SMURF2 and NEDD4L2.
    • Results in the proteasomal and/or lysosomal degradation of the receptor thereby negatively regulating its activity.
    Deubiquitinated by USP15, leading to stabilization of the protein and enhanced TGF-beta signal1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36897

    • 4/23 DME Specific Peptides for TGFBR1 (P36897) (see all 23)
     YMAPEVL  IADLGLA  RPNIPNRW  SGSGSGLP 

    TGFBR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124388.1  NP_004603.1  

    ENSEMBL proteins: 
     ENSP00000449934   ENSP00000447182   ENSP00000364133   ENSP00000364129   ENSP00000446685  
     ENSP00000447297   ENSP00000449028   ENSP00000448518   ENSP00000450052   ENSP00000447707  
    Reactome Protein details: P36897
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant TGFBR1 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: TGFBR1
    OriGene Protein Over-expression Lysate: TGFBR1
    OriGene Custom Protein Services for TGFBR1 
    GenScript Custom Purified and Recombinant Proteins Services for TGFBR1
    Novus Biologicals TGFBR1 Proteins
    Novus Biologicals TGFBR1 Lysate
    Sino Biological Recombinant Protein for TGFBR1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005923tight junction IDA15761148
    GO:0016020membrane ----
    GO:0016323basolateral plasma membrane ----
    GO:0016324apical plasma membrane ----


    TGFBR1 for ontologies           About GeneDecksing



    TGFBR1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TGFBR1
    R&D Systems Antibodies for TGFBR1 (TGF-beta RI/ALK-5)
    Cell Signaling Technology (CST) Antibodies for TGFBR1 
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    GenScript Custom Superior Antibodies Services for TGFBR1
    Novus Biologicals TGFBR1 Antibodies
    Abcam antibodies for TGFBR1 
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    ThermoFisher Antibodies for TGFBR1

    Assay Products for TGFBR1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TGFBR1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for TGFBR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TGFBR1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR003605 TGF_beta_rcpt_GS
     IPR000472 Activin_rcpt

    Graphical View of Domain Structure for InterPro Entry P36897

    ProtoNet protein and cluster: P36897

    1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 GS domain
    Similarity: Contains 1 protein kinase domain


    Function
    for TGFBR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
    Function: Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor,
    TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2
    and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and
    pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell
    proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and
    carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound
    to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2.
    Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4
    complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated
    genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical,
    SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn
    results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal
    transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
    Enzyme regulation: Kept in an inactive conformation by FKBP1A preventing receptor activation in absence of ligand.
    CD109 is another inhibitor of the receptor

         Genatlas biochemistry entry for TGFBR1:
    transforming growth factor beta,receptor type I,regulating cell cycle progression,including two variants TGFBR1,6A and
    TGFBR1,10A,inactivated in pancreatic and biliary cancers,deleted in cutaneous T cell lymphoma

    Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

    miRNA
    Products:            		miRTarBase miRNAs that target TGFBR1:
    hsa-let-7c (MIRT000687), hsa-mir-128 (MIRT004650), hsa-mir-204 (MIRT003271)

    OriGene 3'-UTR Clone (see all 2): TGFBR1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBR1
    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBR1 (see all 114):
    hsa-miR-140-5p hsa-miR-3152-3p hsa-miR-4254 hsa-miR-361-5p hsa-miR-642a hsa-miR-300 hsa-miR-376b hsa-miR-1258
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFBR1 (see all 7)
    OriGene shRNA RFP: TGFBR1
    OriGene siRNA: TGFBR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBR1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TGFBR1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TGFBR1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TGFBR1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TGFBR1 (NM_001130916)
    Sino Biological Human cDNA Clone for TGFBR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TGFBR1
    Search LifeMap BioReagents cell lines for TGFBR1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR1

    Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA19736306
    GO:0004674protein serine/threonine kinase activity IDA18625725
    GO:0004675transmembrane receptor protein serine/threonine kinase activity IDA12015308
    GO:0005024contributes to transforming growth factor beta-activated receptor activity IMP1333888
    GO:0005025transforming growth factor beta receptor activity, type I IDA8752209


    TGFBR1 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for TGFBR1:
     Decreased Wnt reporter activit  Decreased substrate adherent c  G0/1 arrest  Increased G1 DNA content 
     Increased colony dispersion (i 

    Animal Models:
         Mouse knock-outs for TGFBR1: Tgfbr1tm1Bopa Tgfbr1tm1Karl
         15 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Tgfbr1):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  normal  respiratory system  skeleton  tumorigenesis 

    TGFBR1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TGFBR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/56 super-pathways (see all 56) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/12 pathways (see all 12)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		Cellular Apoptosis Pathway0.65
    		p53 Mediated Apoptosis0.84
    		ERK5 Signaling0.61
    		Mitochondrial Apoptosis0.73
    		eIF2 Pathway0.60
    		Telomerase Components in Cell Signaling0.72
    		Rac1 Pathway0.58
    2Development_CNTF receptor signaling
    		Translation _Regulation of EIF4F activity0.32
    		Cell adhesion Plasmin signaling0.07
    		Translation Regulation activity of EIF4F0.32
    		Cell adhesion_Plasmin signaling0.07
    3Apoptosis Pathway
    		Apoptosis Pathway1.00
    		Akt Pathway0.39
    		NF-kappaB Pathway0.45
    4PAK Pathway
    		PAK Pathway1.00
    		Epithelial Adherens Junctions0.36
    		Antioxidant Action of Vitamin-C0.56
    5Transcription_Role of VDR in regulation of genes involved in osteoporosis
    		Transcription_Role of VDR in regulation of genes involved in osteoporosis1.00
    		Transcription Role of VDR in regulation of genes involved in osteoporosis0.80

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/8 EMD Millipore Pathways for TGFBR1 (see all 8)
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Development TGF-beta receptor signaling
    Translation Regulation activity of EIF4F
    Cell adhesion Plasmin signaling

    4 R&D Systems Pathways for TGFBR1
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation
    TGF-beta Signaling Pathways

    5/42 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TGFBR1 (see all 42)
        Nuclear Receptor Activation by Vitamin-A
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C

    2 Cell Signaling Technology (CST) Pathways for TGFBR1
        Angiogenesis
    TGF-beta/Smad Signaling

    4 Tocris Bioscience Pathways for TGFBR1
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    5/9 GeneGo (Thomson Reuters) Pathways for TGFBR1 (see all 9)
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Cytokine production by Th17 cells in CF (Mouse model)
    Cell adhesion Plasmin signaling
    Transcription PPAR Pathway

    5/10 BioSystems Pathways for TGFBR1 (see all 10) 
        MAPK signaling pathway
    TGF Beta Signaling Pathway
    Integrated Breast Cancer Pathway
    p38 MAPK Signaling Pathway
    TGF-beta Receptor Signaling Pathway

    5/7        Reactome Pathways for TGFBR1 (see all 7)
        Signaling by TGF-beta Receptor Complex
    TGF-beta receptor signaling activates SMADs
    Signal Transduction
    Degradation of TGF-beta receptor complex
    Disassembly of tight junctions


    5/11         Kegg Pathways  (Kegg details for TGFBR1) (see all 11):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    Endocytosis
    TGF-beta signaling pathway
    Osteoclast differentiation


    TGFBR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGFBR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/332 Interacting proteins for TGFBR1 (P368971, 2, 3 ENSP000003641334) via UniProtKB, MINT, STRING, and/or I2D (see all 332)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371732, 3, ENSP000003519054MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D: score=6 STRING: ENSP00000351905
    TGFB3P106002, 3, ENSP000002386824MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D: score=3 STRING: ENSP00000238682
    SMAD2Q157962, 3, ENSP000002621604MINT-6799216 I2D: score=5 STRING: ENSP00000262160
    TGFB1P011371, 3, ENSP000002219304EBI-1027557,EBI-779636 I2D: score=3 STRING: ENSP00000221930
    YWHAZP631041, 3, ENSP000003095034EBI-1027557,EBI-347088 I2D: score=1 STRING: ENSP00000309503
    About this table

    Gene Ontology (GO): 5/69 biological process terms (GO ID links to tree view) (see all 69):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity IDA18625725
    GO:0001501skeletal system development ISS--
    GO:0001525angiogenesis IEA--
    GO:0001666response to hypoxia ----
    GO:0001701in utero embryonic development ISS--


    TGFBR1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TGFBR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TGFBR1 for compounds           About GeneDecksing

    EMD Millipore small molecules for TGFBR1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for TGFBR1

    Compounds for TGFBR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    D 4476Selective CK1 inhibitor. Also inhibits TGF-betaRI[301836-43-1]
    A 83-01 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 [909910-43-6]
    SB 525334Selective inhibitor of TGF-betaRI[356559-20-1]
    SD 208Potent ATP-competitive TGF-betaRI inhibitor[627536-09-8]
    GW 788388Selective inhibitor of TGF-betaRI[452342-67-5]

    4 HMDB Compounds for TGFBR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    6 DrugBank Compounds for TGFBR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine-- --target--10592235
    3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole-- --target--10592235
    4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline-- --target--10592235
    N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine-- --target--10592235
    N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide-- --target--10592235
    Naphthyridine Inhibitor-- --target--10592235

    10/26 Novoseek chemical compound relationships for TGFBR1 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 78.7 22 16762882 (4), 17071858 (2), 20169621 (1), 10208456 (1) (see all 16)
    threonine 65.3 13 10997691 (1), 8044838 (1), 8576253 (1), 12606401 (1) (see all 12)
    serine 54.2 15 10997691 (1), 17673906 (1), 8044838 (1), 8576253 (1) (see all 13)
    pyrazole 17 2 15317461 (1)
    ribonucleic acid 12.2 2 8636304 (1), 10819793 (1)
    matrigel 11.4 2 16407850 (1), 9139855 (1)
    vegf 8.68 9 19506300 (5), 15797633 (4)
    rapamycin 7.01 8 12417722 (1), 16362038 (1)
    ly294002 4.78 1 14610066 (1)
    nitric oxide 4.16 1 12027535 (1)

    Search CenterWatch for drugs/clinical trials and news about TGFBR1 / TGFR1 

    Transcripts
    for TGFBR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TGFBR1 gene (2 alternative transcripts): 
    NM_001130916.1  NM_004612.2  

    Unigene Cluster for TGFBR1:

    Transforming growth factor, beta receptor 1
    Hs.494622  [show with all ESTs]
    Unigene Representative Sequence: AJ619019
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547314 ENST00000552573 ENST00000374994(uc004azc.3 uc004azd.3 uc004aze.3 uc011lvc.2)
    ENST00000374990 ENST00000549766 ENST00000552516 ENST00000549021 ENST00000548365
    ENST00000550253 ENST00000546584

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): TGFBR1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBR1
    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBR1 (see all 114):
    hsa-miR-140-5p hsa-miR-3152-3p hsa-miR-4254 hsa-miR-361-5p hsa-miR-642a hsa-miR-300 hsa-miR-376b hsa-miR-1258
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFBR1 (see all 7)
    OriGene shRNA RFP: TGFBR1
    OriGene siRNA: TGFBR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBR1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TGFBR1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TGFBR1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TGFBR1 (NM_001130916)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TGFBR1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TGFBR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFBR1

    Additional cDNA sequence: 

    AJ420419.1 AJ619019.2 AJ619020.1 AK002171.1 AK129793.1 AK302059.1 AK302234.1 AL117597.1 
    BC038347.1 BC056247.1 BC071181.1 BX648917.1 L11695.1 

    14 DOTS entries:

    DT.99954952  DT.91865585  DT.444189  DT.86853546  DT.121169149  DT.100790430  DT.121169150  DT.435429 
    DT.101977267  DT.121169110  DT.95256903  DT.75182985  DT.92463787  DT.95275649 

    24/228 AceView cDNA sequences (see all 228):

    CB143622 CF242945 BC056247 AA191512 BM472996 BC071181 AA548169 BQ434440 
    AA256814 NM_004612 N52775 BQ004098 AW339527 AU140082 Z41211 BF725757 
    AA565660 AU156571 AA652779 BP369056 AI627324 BG539642 AI017162 BF433822 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
    SP1:                          -     -     -     -           -                                                                                 
    SP2:                          -     -     -     -           -     -     -     -                                                               
    SP3:                                                                                                              -                           
    SP4:              -     -     -     -     -     -           -                                                                                 
    SP5:              -     -     -     -     -     -                                                                                             


    ECgene alternative splicing isoforms for TGFBR1

    Expression
    for TGFBR1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TGFBR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TGFBR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/29 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 29) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EndotheliumVeinsVascular Smooth Muscle CellsSmooth Muscle
    HeartAortic Arch ArteriesVascular Smooth Muscle CellsMyocardium, Neural Crest, Smooth Muscle
    HeartEndocardiumVascular Smooth Muscle CellsSmooth Muscle
    PancreasPancreatic DuctsDuct CellsPancreas
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneCervical VertebraeChondrocytesBone, Cartilage
    BoneCervical VertebraeEndochondral PreosteoblastsBone
    BoneCervical VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraeChondrocytesBone, Cartilage
    BoneLumbar VertebraeEndochondral PreosteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TGFBR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGFBR1

    SOURCE GeneReport for Unigene cluster: Hs.494622

    UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
    Tissue specificity: Found in all tissues examined, most abundant in placenta and least abundant in brain and heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including TGFBR1: 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFBR1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR1

    Orthologs
    for TGFBR1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TGFBR1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TGFBR11 transforming growth factor, beta receptor I (activin more 82.11(n)
    92.86(a)    		   374094  NM_204246.1  NP_989577.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TGFBR16
    		 --
    		 88(a)
    		 1 ↔ 1
    		 6(55823060-55835728)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.9962 Xenopus laevis type I serine/threonine kinase receptor more 73.99(n)    U21860.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tgfbr1b1 transforming growth factor, beta receptor 1 b 69.44(n)
    85.26(a)    		   792928  NM_001115059.1  NP_001108531.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta babo1 , 3 TGFbeta ligand binding to type I receptor
    protein more3
    baboon1    		 58(a)
    (best of 3)3
    58.03(n)1
    59.74(a)1    		   44F123
    359001  NM_057652.31  NP_477000.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-13 protein kinase 42(a)
    (best of 2)    		   IV(132451-137621)   --


    ENSEMBL Gene Tree for TGFBR1 (if available)
    TreeFam Gene Tree for TGFBR1 (if available) 

    Paralogs
    for TGFBR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGFBR1 gene
    TGFBR22  ACVR1C2  AMHR22  ACVR2A2  ACVR2B2  ACVR1B2  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    11 SIMAP similar genes for TGFBR1 using alignment to 11 protein entries:     TGFR1_HUMAN (see all proteins):
    ACVR1B    ACVR1C    ACVRL1    BMPR1B    BMPR1A    ACVR1
    ACVR2A    ACVR2B    TGFBR2    BMPR2    ZAK

    TGFBR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TGFBR1
    PGOHUM00000261258


    Genomic Variants
    for TGFBR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1230 NCBI SNPs in TGFBR1 are shown (see all 1230)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1136058751,2
    		Cpathogenic107249287(+) ATTGCA/C/GGATTA 6 Q P R mis11NS 1078
    rs1114263491,2
    		C,Fpathogenic107249288(+) CATTGC/TGGATT 4 R W mis11Minor allele frequency- T:0.00NS 1078
    rs1118543911,2
    		Cpathogenic107260531(+) ACGTTC/TGTGGT 4 S L mis11Minor allele frequency- T:0.00NS 1120
    rs78617801,2
    		C,F,H,probable-non-pathogenic107253654(+) GGAACA/CAAAAG 4 T syn18Minor allele frequency- C:0.00NS EA NA EU 7419
    rs760765151,2
    		--71463072(+) TCCAGG/TGAGAA 2 -- int12Minor allele frequency- T:0.06CSA WA 120
    rs115687381,2
    		C,F,--71464404(+) ATAAAC/AGGGGT 2 -- us2k12Minor allele frequency- A:0.02NS WA 294
    rs115687391,2
    		C--71464583(+) GGCACA/GAAGTC 2 -- us2k1 tfbs31Minor allele frequency- G:0.01NS 178
    rs115687401,2
    		C,--71464644(+) GAGCCT/GGCCAG 2 -- us2k11Minor allele frequency- G:0.01NS 178
    rs115687411,2
    		C--71464787(+) AAGTAA/TGTGTC 2 -- int11Minor allele frequency- T:0.01NS 178
    rs115687421,2
    		C,F,H--71465051(+) TTCTAC/TGTAAC 2 -- int19Minor allele frequency- T:0.00NS EA NA 1158

    HapMap Linkage Disequilibrium report for TGFBR1 (101866320 - 101916474 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TGFBR1: --
    Human Gene Mutation Database (HGMD): TGFBR1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TGFBR1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFBR1

    Disorders / Diseases
    for TGFBR1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TGFBR1 for disorders           About GeneDecksing

    OMIM gene information: 190181   
    OMIM disorders: 609192  608967  
    UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
  • Defects in TGFBR1 are the cause of Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]; also known as Furlong
    • syndrome or Loeys-Dietz aortic aneurysm syndrome (LDAS). LDS1 is an aortic aneurysm syndrome with widespread systemic
    involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and
    bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain
    abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with
    dissection throughout the arterial tree
  • Defects in TGFBR1 are the cause of Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]. An aortic aneurysm
    • syndrome with widespread systemic involvement. Physical findings include prominent joint laxity, easy bruising, wide
    and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or
    bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of
    the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is
    characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in
    some patients. Note=TGFBR1 mutation Gln-487 has been reported to be associated with thoracic aortic aneurysms and
    dissection (TAAD) (PubMed:16791849). This phenotype, also known as thoracic aortic aneurysms type 5 (AAT5), is
    distinguised from LDS2A by having aneurysms restricted to thoracic aorta. It is unclear, however, if this condition is
    fulfilled in individuals bearing Gln-487 mutation, that is why they are considered as LDS2A by the OMIM resource
  • Defects in TGFBR1 are the cause of multiple self-healing squamous epithelioma (MSSE) [MIM:132800]. A disorder
    • characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed
    regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars

    20/120 diseases for TGFBR1 (see all 120):    About MalaCards
    aortic aneurysm    loeys-dietz syndrome    loeys-dietz syndrome type 1a    loeys-dietz syndrome type 2a
    multiple self healing squamous epithelioma    marfan-like connective tissue disorder    thoracic aortic aneurysm    camurati-engelmann disease
    gastric cancer    estrogen-receptor negative breast cancer    familial thoracic aortic aneurysm and dissection    carcinoma
    cleft lip/palate    arteriovenous malformation    patent ductus arteriosus    lichen planus
    craniofacial abnormalities    oral lichen planus    abdominal aortic aneurysm    hereditary hemorrhagic telangiectasia

    3 diseases from the University of Copenhagen DISEASES database for TGFBR1:
    Loeys-Dietz syndrome     Cleft palate     Aortic aneurysm

    10/56 Novoseek disease relationships for TGFBR1 gene (see all 56)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    marfan syndrome 57.3 12 16799921 (2), 18377530 (1), 16596670 (1), 16835936 (1) (see all 8)
    telangiectasia hereditary hemorrhagic 57.1 1 12384983 (1)
    sclerosis systemic 43.5 4 15593186 (1), 16575856 (1), 16947635 (1)
    tumors 36.4 21 7622234 (2), 10932976 (2), 8636304 (1), 8760600 (1) (see all 15)
    renal fibrosis 35.1 1 17274978 (1)
    breast cancer 33.9 15 16428477 (2), 10416594 (2), 14760070 (1), 11221885 (1) (see all 11)
    telangiectasia 31.4 1 15385967 (1)
    cancer 25.9 18 8760600 (2), 10416594 (2), 19509225 (2), 11746979 (1) (see all 11)
    hnscc 25.1 2 20111589 (1), 16478646 (1)
    keloid 21.2 1 11496185 (1)

    GeneTests: TGFBR1
    Thoracic Aortic Aneurysms and Aortic Dissections
    Loeys-Dietz Syndrome

    Genetic Association Database (GAD): TGFBR1
    Human Genome Epidemiology (HuGE) Navigator: TGFBR1 (76 documents)

    Export disorders for TGFBR1 gene to outside databases

    Publications
    for TGFBR1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TGFBR1 gene, integrated from 9 sources (see all 657):
    (articles sorted by number of sources associating them with TGFBR1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. TGFBR1(*)6A is not associated with prostate cancer in men of European ancestry. (PubMed id 15505640)1, 2, 4 Suarez B.K.... Catalona W.J. (2005)
    2. No major association between TGFBR1*6A and prostate cancer. (PubMed id 15385056)1, 2, 4 Kaklamani V.G.... Pasche B. (2004)
    3. TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies. (PubMed id 12947057)1, 2, 4 Kaklamani V.G.... Pasche B. (2003)
    4. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (PubMed id 16791849)1, 2, 9 Matyas G.... Steinmann B. (2006)
    5. An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder. (PubMed id 15382067)1, 4, 9 Chen T....Carter J.H. (2004)
    6. Identification of 1,5-naphthyridine derivatives as a novel series of potent and selective TGF-beta type I receptor inhibitors. (PubMed id 15317461)1, 2, 9 Gellibert F....Hartley D. (2004)
    7. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. (PubMed id 16596670)1, 2, 9 Ades L.C.... Bennetts B. (2006)
    8. Loeys-Dietz syndrome type I and type II: clinical fin dings and novel mutations in two Italian patients. (PubMed id 19883511)1, 2, 9 Drera B....Colombi M. (2009)
    9. Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation. (PubMed id 11278251)1, 2, 9 Ebisawa T....Miyazono K. (2001)
    10. Cloning and genomic organization of the human transforming growth factor-beta type I receptor gene. (PubMed id 9417915)1, 2, 9 Vellucci V.F. and Reiss M. (1997)

    External Searches for TGFBR1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TGFBR1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7046 HGNC: 11772 AceView: TGFBR1 Ensembl:ENSG00000106799 euGenes: HUgn7046
    ECgene: TGFBR1 Kegg: 7046 H-InvDB: TGFBR1

    Other Databases showing TGFBR1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TGFBR1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TGFBR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFBR1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBR1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgfbr1/

    Intellectual Property
    for TGFBR1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TGFBR1 gene:
    Search GeneIP for patents involving TGFBR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for TGFBR1 gene

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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of TGFBR1
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