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 d... See more...

Aliases for TGFBR1 Gene

Aliases for TGFBR1 Gene

  • Transforming Growth Factor Beta Receptor 1 2 3 5
  • ALK-5 2 3 4
  • ALK5 2 3 4
  • Activin A Receptor Type II-Like Protein Kinase Of 53kD 3 4
  • Transforming Growth Factor-Beta Receptor Type I 3 4
  • Activin A Receptor Type II-Like Kinase, 53kDa 2 3
  • Serine/Threonine-Protein Kinase Receptor R4 3 4
  • Transforming Growth Factor Beta Receptor I 2 3
  • Activin Receptor-Like Kinase 5 3 4
  • TGF-Beta Receptor Type-1 3 4
  • EC 2.7.11.30 4 51
  • TbetaR-I 3 4
  • ACVRLK4 2 3
  • TGFR-1 3 4
  • TBR-I 2 3
  • SKR4 3 4
  • TBRI 2 3
  • Mutant Transforming Growth Factor Beta Receptor I 3
  • Multiple Self-Healing Squamous Epithelioma 2
  • TGF-Beta Type I Receptor 4
  • TGF-Beta Receptor Type I 4
  • EC 2.7.11 51
  • TGFBR1 5
  • LDS1A 3
  • LDS2A 3
  • AAT5 3
  • ESS1 3
  • LDS1 3
  • MSSE 3

External Ids for TGFBR1 Gene

Previous HGNC Symbols for TGFBR1 Gene

  • MSSE
  • ESS1

Previous GeneCards Identifiers for TGFBR1 Gene

  • GC09P092667
  • GC09P093610
  • GC09P095324
  • GC09P097247
  • GC09P098946
  • GC09P100907
  • GC09P101867
  • GC09P071464

Summaries for TGFBR1 Gene

Entrez Gene Summary for TGFBR1 Gene

  • 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]

GeneCards Summary for TGFBR1 Gene

TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a Protein Coding gene. Diseases associated with TGFBR1 include Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz Syndrome 1. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Cell adhesion_Plasmin signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ACVR1B.

UniProtKB/Swiss-Prot Summary for TGFBR1 Gene

  • 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.

Tocris Summary for TGFBR1 Gene

  • The transforming growth factor-beta family of polypeptides (TGF-beta1-3) are involved in the regulation of cellular processes, including division, differentiation, motility, adhesion and death. TGF-beta signals by binding the type II receptor (TGF-betaRII) which activates the type I receptor (TGF-betaRI).

Gene Wiki entry for TGFBR1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFBR1 Gene

Genomics for TGFBR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TGFBR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J099102 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 609.5 +1.5 1466 5.2 SP1 HNRNPL ATF7 PRDM10 IKZF1 POLR2A BACH1 LARP7 ZNF143 MTA2 TGFBR1 INVS GALNT12 HSALNG0073216 ALG2
GH09J099075 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -27.2 -27247 5.6 RNF2 ZNF512 LEF1 IKZF1 JUND DDX20 MTA2 HNRNPUL1 PKNOX1 ZNF24 TGFBR1 piR-35564-145 COL15A1
GH09J099167 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 8.4 +66.8 66840 7.4 GATAD2A CTCF TFE3 SOX13 RCOR2 ZIC2 PKNOX1 POLR2A RXRB IRF2 SEC61B ALG2 TGFBR1 KRT8P11 ENSG00000227269 HSALNG0073220 RF00001-344 RNA5SP290
GH09J099111 Enhancer 0.7 ENCODE dbSUPER 8.8 +8.7 8700 1.8 LEF1 JUND HDAC1 CTBP1 RUNX3 ZNF316 FOSL1 SPI1 CEBPB ZEB2 TGFBR1 HSALNG0073216 ALG2
GH09J099118 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 5.2 +15.8 15763 2.2 SP1 TCF12 IKZF2 TRIM22 YY1 EED DPF2 RELB RUNX3 BCLAF1 TGFBR1 HSALNG0073216 ALG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFBR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGFBR1

Top Transcription factor binding sites by QIAGEN in the TGFBR1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HNF-3beta
  • Pbx1a
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for TGFBR1 Gene

Genomic Locations for TGFBR1 Gene
chr9:99,104,038-99,154,192
(GRCh38/hg38)
Size:
50,155 bases
Orientation:
Plus strand
chr9:101,866,320-101,916,474
(GRCh37/hg19)
Size:
50,155 bases
Orientation:
Plus strand

Genomic View for TGFBR1 Gene

Genes around TGFBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFBR1 Gene

Proteins for TGFBR1 Gene

  • Protein details for TGFBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36897-TGFR1_HUMAN
    Recommended name:
    TGF-beta receptor type-1
    Protein Accession:
    P36897
    Secondary Accessions:
    • Q6IR47
    • Q706C0
    • Q706C1

    Protein attributes for TGFBR1 Gene

    Size:
    503 amino acids
    Molecular mass:
    55960 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • 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. Interacts with SDCBP (via C-terminus) (PubMed:25893292) Interacts with CAV1 and this interaction is impaired in the presence of SDCBP (PubMed:25893292). Interacts with APPL1; interaction is TGF beta dependent; mediates trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432).

    Three dimensional structures from OCA and Proteopedia for TGFBR1 Gene

    Alternative splice isoforms for TGFBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFBR1 Gene

Selected DME Specific Peptides for TGFBR1 Gene

P36897:
  • HRDLKSKNILVKKNG
  • GMIKLALS
  • RHENILGFIAAD
  • RVGTKRYM
  • KPAIAHRD
  • IADLGLA
  • ARTIVLQE
  • FESFKRADIY
  • VAVKIFSSR
  • IADLGLAVRHD
  • PLLVQRTIA
  • IGKGRFGEVWRG
  • RPNIPNRW
  • SGSGSGLP
  • ASGLAHLH
  • TDTIDIAPN
  • MRECWYANGAARLTALRIKKTLSQLS
  • GLGPVELAAVIAGPVCFVCI
  • TDGLCFVSVTETTDKVIHNSMCIAEIDLIPRDRPFVCAP
  • RYMAPEVL
  • YMAPEVL
  • CCIADLGLA
  • TLKDLIYD

Post-translational modifications for TGFBR1 Gene

  • Phosphorylated at basal levels in the absence of ligand. Activated upon phosphorylation by TGFBR2, mainly in the GS domain. Phosphorylation in the GS domain abrogates FKBP1A-binding.
  • N-Glycosylated.
  • 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 signal. Its ubiquitination and proteasome-mediated degradation is negatively regulated by SDCBP (PubMed:25893292).
  • Glycosylation at Asn45
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for TGFBR1 Gene

Gene Families for TGFBR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TGFBR1 Gene

InterPro:
Blocks:
  • Domain in TGF-beta receptor/activin receptor, type I/II
ProtoNet:

Suggested Antigen Peptide Sequences for TGFBR1 Gene

GenScript: Design optimal peptide antigens:
  • Mutant transforming growth factor beta receptor I (A6MIV6_HUMAN)
  • Mutant transforming growth factor beta receptor I (A6MIV7_HUMAN)
  • cDNA FLJ61454, highly similar to TGF-beta receptor type-1 (EC 2.7.11.30) (B4DXN7_HUMAN)
  • cDNA FLJ58645, highly similar to TGF-beta receptor type-1 (EC 2.7.11.30) (B4DY26_HUMAN)
  • Transforming growth factor, beta receptor I (Activin A receptor type II-like kinase, 53kDa), isoform CRA_a (Q5T7S2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P36897

UniProtKB/Swiss-Prot:

TGFR1_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with TGFBR1: view

Function for TGFBR1 Gene

Molecular function for TGFBR1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[receptor-protein]-L-threonine + ATP = [receptor-protein]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[receptor-protein]-L-serine + ATP = [receptor-protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Kept in an inactive conformation by FKBP1A preventing receptor activation in absence of ligand. CD109 is another inhibitor of the receptor.
GENATLAS Biochemistry:
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) for TGFBR1 Gene

Phenotypes From GWAS Catalog for TGFBR1 Gene

Gene Ontology (GO) - Molecular Function for TGFBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA,IDA 19736306
GO:0004674 protein serine/threonine kinase activity IEA,IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA --
GO:0005024 contributes_to transforming growth factor beta-activated receptor activity IEA,IMP 1333888
genes like me logo Genes that share ontologies with TGFBR1: view
genes like me logo Genes that share phenotypes with TGFBR1: view

Human Phenotype Ontology for TGFBR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFBR1 Gene

MGI Knock Outs for TGFBR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TGFBR1

CRISPR Products

miRNA for TGFBR1 Gene

miRTarBase miRNAs that target TGFBR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBR1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for TGFBR1 Gene

Localization for TGFBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBR1 Gene

Cell membrane. Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFBR1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
extracellular 3
cytoskeleton 3
endoplasmic reticulum 3
mitochondrion 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TGFBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell ISS --
GO:0005634 nucleus IDA 26583432
GO:0005768 endosome IEA,IDA 26583432
GO:0005886 plasma membrane IDA,TAS --
GO:0005923 bicellular tight junction IEA,IDA 15761148
genes like me logo Genes that share ontologies with TGFBR1: view

Pathways & Interactions for TGFBR1 Gene

PathCards logo

SuperPathways for TGFBR1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.62
.61
.60
.57
2 SMAD2/3 MH2 Domain Mutants in Cancer
3 Endometrial cancer
4 Apoptosis Pathway
5 PAK Pathway
.56
.56
.36
genes like me logo Genes that share pathways with TGFBR1: view

Pathways by source for TGFBR1 Gene

42 Qiagen pathways for TGFBR1 Gene
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways in Synovial Fibroblasts
  • Breast Cancer Regulation by Stathmin1
2 Cell Signaling Technology pathways for TGFBR1 Gene
2 GeneTex pathways for TGFBR1 Gene

SIGNOR curated interactions for TGFBR1 Gene

Gene Ontology (GO) - Biological Process for TGFBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity IDA 18625725
GO:0001501 skeletal system development IEA,ISS --
GO:0001525 angiogenesis IEA --
GO:0001701 in utero embryonic development IEA,ISS --
GO:0001822 kidney development IEA,ISS --
genes like me logo Genes that share ontologies with TGFBR1: view

Drugs & Compounds for TGFBR1 Gene

(44) Drugs for TGFBR1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Pirfenidone Approved, Investigational Pharma TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo 86
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 56
2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine Experimental Pharma Target 0

(14) Additional Compounds for TGFBR1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
SIS3
521984-48-5

(5) Tocris Compounds for TGFBR1 Gene

Compound Action Cas Number
A 83-01 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 909910-43-6
RepSox Potent and selective inhibitor of TGF-betaRI 446859-33-2
SB 431542 Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7 301836-41-9
SB 505124 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 694433-59-5
SIS3 Selective Smad3 inhibitor; inhibits TGF-betaR1 signaling 521984-48-5

(16) ApexBio Compounds for TGFBR1 Gene

Compound Action Cas Number
A 77-01 Potent ALK5 inhibitor 607737-87-1
A 83-01 ALK-5 inhibitor 909910-43-6
GW788388 ALK5 inhibitor,potent and selective 452342-67-5
K02288 ALK inhibitor 1431985-92-0
LDN-212854 BMP receptor inhibitor,potent and selective 1432597-26-6
LY2109761 TβRI/II kinase inhibitor 700874-71-1
LY2157299 TGF-βR1 inhibitor,potent and selective 700874-72-2
LY364947 396129-53-6
ML347 BMP receptor inhibitor,potent and selective 1062368-49-3
Pirfenidone TGF-β production inhibitor 53179-13-8
RepSox ALK5 inhibitor,potent and selective 446859-33-2
SB 431542 ALK inhibitor 301836-41-9
SB505124 ALK4/ALK5/ALK7 inhibitor 694433-59-5
SB-505124 hydrochloride ALK5/ALK4/ALK7 inhibitor in TGF-β/activin signalling,selective 356559-13-2
SB525334 (TGF-beta1) receptor inhibitor 356559-20-1
SD-208 TGF-βR I kinase inhibitor 627536-09-8
genes like me logo Genes that share compounds with TGFBR1: view

Drug Products

Transcripts for TGFBR1 Gene

mRNA/cDNA for TGFBR1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBR1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR1 Gene

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: - - - - - -
SP6: -
SP7: - - - - -
SP8: - -
SP9: -

Relevant External Links for TGFBR1 Gene

GeneLoc Exon Structure for
TGFBR1

Expression for TGFBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TGFBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TGFBR1 Gene

This gene is overexpressed in Breast (40.3) and Placenta (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TGFBR1 Gene



Protein tissue co-expression partners for TGFBR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGFBR1

SOURCE GeneReport for Unigene cluster for TGFBR1 Gene:

Hs.494622

mRNA Expression by UniProt/SwissProt for TGFBR1 Gene:

P36897-TGFR1_HUMAN
Tissue specificity: Found in all tissues examined, most abundant in placenta and least abundant in brain and heart. Expressed in a variety of cancer cell lines (PubMed:25893292).

Evidence on tissue expression from TISSUES for TGFBR1 Gene

  • Nervous system(3.7)
  • Heart(3.3)
  • Muscle(3.2)
  • Kidney(3.2)
  • Lung(3.1)
  • Liver(2.9)
  • Intestine(2.9)
  • Spleen(2.9)
  • Skin(2.8)
  • Bone marrow(2.7)
  • Blood(2.6)
  • Lymph node(2.6)
  • Pancreas(2.4)
  • Bone(2.3)
  • Stomach(2.3)
  • Thyroid gland(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFBR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • pharynx
  • skull
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGFBR1: view

No data available for mRNA differential expression in normal tissues for TGFBR1 Gene

Orthologs for TGFBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFBR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TGFBR1 30 31
  • 99.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TGFBR1 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TGFBR1 30 31
  • 94.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TGFBR1 30 31
  • 92.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tgfbr1 30 17 31
  • 90.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tgfbr1 30
  • 90.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia TGFBR1 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHALK5 31
  • 90 (a)
OneToOne
TGFBR1 30
  • 82.73 (n)
Lizard
(Anolis carolinensis)
Reptilia TGFBR1 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tgfbr1 30
  • 77.97 (n)
Str.6441 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.996 30
Zebrafish
(Danio rerio)
Actinopterygii tgfbr1a 31
  • 78 (a)
OneToMany
tgfbr1b 30 31
  • 69.74 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008247 30
  • 62.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta babo 30 31 32
  • 57.01 (n)
OneToMany
sax 32
  • 46 (a)
tkv 32
  • 45 (a)
Worm
(Caenorhabditis elegans)
Secernentea daf-1 32
  • 42 (a)
sma-6 32
  • 38 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7011 30
Species where no ortholog for TGFBR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TGFBR1 Gene

ENSEMBL:
Gene Tree for TGFBR1 (if available)
TreeFam:
Gene Tree for TGFBR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGFBR1: view image

Paralogs for TGFBR1 Gene

(10) SIMAP similar genes for TGFBR1 Gene using alignment to 11 proteins:

  • TGFR1_HUMAN
  • A6MIV6_HUMAN
  • A6MIV7_HUMAN
  • B4DY26_HUMAN
  • F8VRH6_HUMAN
  • F8VVC4_HUMAN
  • F8VXZ5_HUMAN
  • F8W0K6_HUMAN
  • F8W1R9_HUMAN
  • H0YHS4_HUMAN
  • Q5T7S2_HUMAN

Pseudogenes.org Pseudogenes for TGFBR1 Gene

genes like me logo Genes that share paralogs with TGFBR1: view

Variants for TGFBR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGFBR1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
477560 Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection 99,138,035(+) ACTGTAATGTTACGTC SPLICE_DONOR_VARIANT
636440 Uncertain Significance: not provided 99,129,099(+) T/A SYNONYMOUS_VARIANT
636544 Uncertain Significance: not provided 99,138,002(+) C/T MISSENSE_VARIANT
636853 Uncertain Significance: not provided 99,142,584(+) A/G MISSENSE_VARIANT
636866 Uncertain Significance: not provided 99,142,574(+) TATC/T INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for TGFBR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TGFBR1 Gene

Variant ID Type Subtype PubMed ID
esv3621214 CNV gain 21293372
nsv1076195 CNV deletion 25765185
nsv1144284 CNV deletion 24896259
nsv831666 CNV gain 17160897
nsv950918 CNV duplication 24416366

Variation tolerance for TGFBR1 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGFBR1 Gene

Human Gene Mutation Database (HGMD)
TGFBR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFBR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBR1 Gene

Disorders for TGFBR1 Gene

MalaCards: The human disease database

(62) MalaCards diseases for TGFBR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple self-healing squamous epithelioma
  • multiple self-healing squamous epithelioma, susceptibility to
loeys-dietz syndrome 1
  • lds1
loeys-dietz syndrome
  • furlong syndrome
familial keratoacanthoma
  • multiple self-healing squamous epithelioma
familial thoracic aortic aneurysm and aortic dissection
  • annuloaortic ectasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TGFR1_HUMAN
  • Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. 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, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269 PubMed:15731757, ECO:0000269 PubMed:16596670, ECO:0000269 PubMed:16791849, ECO:0000269 PubMed:16928994, ECO:0000269 PubMed:19883511, ECO:0000269 PubMed:22113417}. Note=The disease is caused by mutations affecting the gene represented in this entry. 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 LDS1 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 LDS1 by the OMIM resource. {ECO:0000269 PubMed:16791849}.
  • 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. {ECO:0000269 PubMed:21358634}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TGFBR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TGFBR1: view

No data available for Genatlas for TGFBR1 Gene

Publications for TGFBR1 Gene

  1. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. (PMID: 21358634) Goudie DR … Lane EB (Nature genetics 2011) 2 3 4
  2. Association of the TGF-beta receptor genes with abdominal aortic aneurysm. (PMID: 19672284) Baas AF … Ruigrok YM (European journal of human genetics : EJHG 2010) 3 23 41
  3. Polymorphisms in the transforming growth factor beta 1 pathway in relation to colorectal cancer progression. (PMID: 19998449) Försti A … Lenner P (Genes, chromosomes & cancer 2010) 3 23 41
  4. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). (PMID: 19639654) Morisaki H … Morisaki T (Human mutation 2009) 3 23 41
  5. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. (PMID: 19883511) Drera B … Colombi M (Orphanet journal of rare diseases 2009) 3 4 23

Products for TGFBR1 Gene

Sources for TGFBR1 Gene