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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 50
- TbetaR-I 3 4
- ACVRLK4 2 3
- TGFR-1 3 4
External Ids for TGFBR1 Gene
- HGNC: 11772
- NCBI Entrez Gene: 7046
- Ensembl: ENSG00000106799
- OMIM®: 190181
- UniProtKB/Swiss-Prot: P36897
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
-
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 Apelin signaling pathway and Adherens junction. 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.
-
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).
Additional gene information for TGFBR1 Gene
- HGNC (11772)
- NCBI Entrez Gene (7046)
- Ensembl (ENSG00000106799)
- OMIM® (190181)
- UniProtKB/Swiss-Prot (P36897)
- Open Targets Platform(ENSG00000106799)
- Monarch Initiative
- Alliance of Genome Resources
- Search for TGFBR1 at DataMed
- Search for TGFBR1 at HumanCyc
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
- 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
Latest Assembly
- chr9:99,104,038-99,154,192
- (GRCh38/hg38)
- Size:
- 50,155 bases
- Orientation:
- Plus strand
Previous Assembly
- chr9:101,867,395-101,916,474
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 49,080 bases
- Orientation:
- Plus strand
Genomic View for TGFBR1 Gene
Genes around TGFBR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q22.33 by HGNC
- 9q22.33 by Entrez Gene
- 9q22.33 by Ensembl
TGFBR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- NX_P36897 (NX_P36897-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TGFBR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences TGFBR1 / ALK5 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TGFBR1
- Novus Biologicals Antibodies for TGFBR1
-
Abcam antibodies for TGFBR1
- Invitrogen Antibodies for TGFBR1 (AFLGC-TGFBR1)
- antibodies-online: Show 43 available TGFBR1 Antibodies ranked by validation data
- Compare Top TGFBR1 Antibodies
-
Recommended
- 112 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 84 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 42 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IF Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TGFBR1
- Sino Biological Antibodies for TGFBR1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for TGFBR1
- Origene Custom Protein Services for TGFBR1
- Sino Biological Cell Lysates for TGFBR1
- Sino Biological Recombinant Proteins for TGFBR1
- ProSpec Recombinant Proteins for TGFBR1
-
Abcam proteins for TGFBR1
Assay products for research
- RayBiotech Custom Human TGF-beta RI/ALK-5 ELISA
- antibodies-online: Show 34 available TGFBR1 Elisa Kits ranked by validation data
- Compare Top TGFBR1 Elisa Kits
-
Quality Products:
- ABIN416726
- ABIN1572684
- ABIN5523656
- ABIN4993735
- ABIN824758
- ABIN5593972
- ABIN5659461
- ABIN2539879
- ABIN2951743
- ABIN4973221
- ABIN424028
- ABIN1572685
- ABIN824759
- ABIN5659462
- ABIN2539880
- ABIN6221877
- ABIN4973220
- ABIN2044695
- ABIN1161496
- ABIN457270
- ABIN431362
- ABIN5523657
- ABIN5593973
- ABIN5659463
- ABIN4973219
- ABIN6221880
- ABIN6221884
- ABIN1161498
- ABIN5074638
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
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
P36897UniProtKB/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.
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=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein]; 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=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L-seryl-[receptor-protein]; 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
| 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 |
Phenotypes for TGFBR1 Gene
- MGI mutant phenotypes for TGFBR1:
-
inferred from 9 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- hematopoietic system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for TGFBR1:
-
- Increased G1 DNA content
- Decreased viability
- shRNA abundance <= 25%
- no effect
- Increased shRNA abundance (Z-score > 2)
- Decreased substrate adherent cell growth
- Decreased West Nile virus (WNV) infection
- Increased vesicular stomatitis virus (VSV) infection
- Downregulation of Wnt pathway after Wnt3A stimulation
- G0/1 arrest
- Increased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased Salmonella proliferation
- Decreased shRNA abundance (Z-score < -2)
- Decreased infection with West Nile virus (WNV)
- Transferrin accumulation in small spots in the cell periphery
- Increased colony dispersion (increased number of colonies and decreased number of cells per colony)
- Condensed cis-Golgi, condensed trans-Golgi
Animal Models for TGFBR1 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for TGFBR1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TGFBR1 - Starting at $85 >
- * TGFBR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TGFBR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TGFBR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TGFBR1
miRNA for TGFBR1 Gene
- miRTarBase miRNAs that target TGFBR1
-
- hsa-let-7c-5p (MIRT000687)
- mmu-miR-122-5p (MIRT003113)
- hsa-miR-204-5p (MIRT003271)
- hsa-miR-128-3p (MIRT004650)
- hsa-miR-140-5p (MIRT007379)
- mmu-miR-301b-3p (MIRT007982)
- mmu-miR-541-5p (MIRT008279)
- mmu-miR-425-5p (MIRT008690)
- mmu-miR-340-5p (MIRT010576)
- mmu-miR-15a-5p (MIRT011815)
- mmu-let-7b-5p (MIRT012219)
- mmu-miR-297a-5p (MIRT013127)
- hsa-miR-142-3p (MIRT021634)
- hsa-miR-101-3p (MIRT027382)
- hsa-miR-98-5p (MIRT027865)
- hsa-let-7d-5p (MIRT032178)
- hsa-let-7f-5p (MIRT053633)
- hsa-miR-130a-3p (MIRT053635)
- hsa-miR-181a-5p (MIRT053663)
- hsa-let-7g-5p (MIRT054663)
- hsa-let-7b-5p (MIRT054832)
- hsa-miR-1343-3p (MIRT106691)
- hsa-miR-6783-3p (MIRT106693)
- hsa-miR-202-5p (MIRT173470)
- hsa-miR-1283 (MIRT173481)
- hsa-miR-4668-5p (MIRT173515)
- hsa-miR-8083 (MIRT173532)
- hsa-miR-27a-3p (MIRT323787)
- hsa-miR-216a-3p (MIRT323788)
- hsa-miR-27b-3p (MIRT323789)
- hsa-miR-3681-3p (MIRT323791)
- hsa-miR-3927-3p (MIRT372394)
- hsa-miR-6831-5p (MIRT372395)
- hsa-miR-376c-3p (MIRT437849)
- hsa-miR-135b-5p (MIRT438737)
- hsa-miR-6826-3p (MIRT466408)
- hsa-miR-6795-3p (MIRT466409)
- hsa-miR-6887-3p (MIRT466410)
- hsa-miR-3156-5p (MIRT466411)
- hsa-miR-4480 (MIRT496743)
- hsa-miR-8063 (MIRT496744)
- hsa-miR-6888-3p (MIRT698502)
- hsa-miR-466 (MIRT698503)
- hsa-miR-6739-5p (MIRT698504)
- hsa-miR-6733-5p (MIRT698505)
- hsa-miR-3153 (MIRT698506)
- hsa-miR-4646-5p (MIRT698507)
- hsa-miR-204-3p (MIRT698508)
- hsa-miR-6742-3p (MIRT698509)
- hsa-miR-6852-5p (MIRT698510)
- hsa-miR-939-3p (MIRT698511)
- hsa-miR-4643 (MIRT698512)
- hsa-miR-4789-3p (MIRT698513)
- hsa-miR-3529-5p (MIRT698514)
- hsa-miR-379-5p (MIRT698515)
- hsa-miR-490-3p (MIRT732226)
- mmu-miR-140-5p (MIRT732729)
- gga-let-7a-5p (MIRT733628)
- gga-let-7b (MIRT733631)
- hsa-miR-20a-5p (MIRT734034)
- hsa-miR-181c-5p (MIRT734924)
- hsa-miR-199a-5p (MIRT735136)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TGFBR1
- Browse OriGene Inhibitory RNA Products For TGFBR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBR1
Clone products for research
- Applied Biological Materials (abm): Clones for TGFBR1 - Starting at $45 >
- * TGFBR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208091
- MR208091
- MR208091L3
- MR208091L4
- RC219514
- RC219514L1
- RC219514L2
- RC219514L3
- RC219514L4
- RC225697
- RC225697L1
- RC225697L2
- RC225697L3
- RC225697L4
- RG219514
- RG225697
- RR207251
- RR207251L3
- RR207251L4
- MR208091L3V
- MR208091L4V
- RC219514L1V
- RC219514L2V
- RC219514L3V
- RC219514L4V
- RC225697L1V
- RC225697L2V
- RC225697L3V
- RC225697L4V
- RR207251L3V
- RR207251L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TGFBR1
- Addgene plasmids for TGFBR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TGFBR1
Cell Lines for research
-
Horizon Cell Lines for TGFBR1
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.
| 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 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 |
| GO:0009986 | cell surface | IEA,IDA | 25893292 |
Pathways & Interactions for TGFBR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
|
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | SMAD2/3 MH2 Domain Mutants in Cancer | ||
| 3 | Endometrial cancer | ||
| 4 | Apoptosis Pathway |
.39
|
|
| 5 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
Pathways by source for TGFBR1 Gene
13 BioSystems pathways for TGFBR1 Gene
21 Reactome pathways for TGFBR1 Gene
23 KEGG pathways for TGFBR1 Gene
9 GeneGo (Thomson Reuters) pathways for TGFBR1 Gene
- Cell adhesion_Plasmin signaling
- Cell cycle Regulation of G1/S transition (part 1)
- Cytokine production by Th17 cells in CF (Mouse model)
- Development_Glucocorticoid receptor signaling
- Development_TGF-beta receptor signaling
4 Tocris pathways 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
Interacting Proteins for TGFBR1 Gene
Selected Interacting proteins:
P36897-TGFR1_HUMAN
ENSP00000364133
for TGFBR1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TGFBR1
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for TGFBR1 Gene
| 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-Ī² production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 92 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Manganese | Approved | Nutra | 65 | |||
| 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
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 | TĪ²RI/II kinase inhibitor | 700874-71-1 |
| LY2157299 | TGF-Ī²R1 inhibitor,potent and selective | 700874-72-2 |
| LY364947 | 396129-53-6 | |
| ML347 | BMP receptor inhibitor,potent and selective | 1062368-49-3 |
| Pirfenidone | TGF-Ī² 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-Ī²/activin signalling,selective | 356559-13-2 |
| SB525334 | (TGF-beta1) receptor inhibitor | 356559-20-1 |
| SD-208 | TGF-Ī²R I kinase inhibitor | 627536-09-8 |
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 :
-
- ENST00000374990 5720 nts (view in UCSC)
- ENST00000374994 6492 nts (view in UCSC)
- ENST00000546584 565 nts (view in UCSC)
- ENST00000547314 533 nts (view in UCSC)
- ENST00000548365 582 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TGFBR1 - Starting at $85 >
- * TGFBR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TGFBR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TGFBR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TGFBR1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TGFBR1
- Browse OriGene Inhibitory RNA Products For TGFBR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBR1
Clone products for research
- Applied Biological Materials (abm): Clones for TGFBR1 - Starting at $45 >
- * TGFBR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208091
- MR208091
- MR208091L3
- MR208091L4
- RC219514
- RC219514L1
- RC219514L2
- RC219514L3
- RC219514L4
- RC225697
- RC225697L1
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- RG219514
- RG225697
- RR207251
- RR207251L3
- RR207251L4
- MR208091L3V
- MR208091L4V
- RC219514L1V
- RC219514L2V
- RC219514L3V
- RC219514L4V
- RC225697L1V
- RC225697L2V
- RC225697L3V
- RC225697L4V
- RR207251L3V
- RR207251L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TGFBR1
- Addgene plasmids for TGFBR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TGFBR1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Hypertrophic Chondrocytes Vertebrae
- Endochondral Preosteoblasts Rib
- Endochondral Preosteoblasts Vertebrae
- Hypertrophic Chondrocytes Rib
-
Epithelial Cells
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
- Duct Cells Pancreatic Ducts
-
Smooth Muscle (Muscoskeletal System)
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
- Vascular Smooth Muscle Cells Veins
- Vascular Smooth Muscle Cells Aortic Arch Arteries
-
Eye (Sensory Organs)
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
-
Cartilage (Muscoskeletal System)
- Hypertrophic Chondrocytes Vertebrae
- Hypertrophic Chondrocytes Rib
- Brain (Nervous System)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
-
Zygote (Early Embryonic Tissues)
- Zygote Zygote
-
Inner Cell Mass (Early Embryo)
- Zygote Zygote
-
Trophoblast (Extraembryonic Tissues)
- Zygote Zygote
- Endothelium (Cardiovascular System)
-
Heart (Cardiovascular System)
- Vascular Smooth Muscle Cells Aortic Arch Arteries
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
- Intermediate Mesoderm (Gastrulation Derivatives)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Limb (Muscoskeletal System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGFBR1
SOURCE GeneReport for Unigene cluster for TGFBR1 Gene:
Hs.494622mRNA 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(3.5)
- Heart(3.1)
- Kidney(3)
- Lung(2.9)
- Muscle(2.9)
- Spleen(2.7)
- Intestine(2.7)
- Liver(2.7)
- Skin(2.6)
- Bone marrow(2.5)
- Lymph node(2.4)
- Blood(2.4)
- Pancreas(2.2)
- Stomach(2.2)
- Bone(2.1)
- Thyroid gland(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
Primer products for research
-
OriGene qPCR primer pairs for TGFBR1
-
OriGene qPCR primer pairs and template standards for TGFBR1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TGFBR1 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TGFBR1 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TGFBR1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TGFBR1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tgfbr1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tgfbr1 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TGFBR1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CHALK5 30 |
|
OneToOne | |
| TGFBR1 29 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | TGFBR1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgfbr1 29 |
|
||
| Str.6441 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.996 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tgfbr1a 30 |
|
OneToMany | |
| tgfbr1b 29 30 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008247 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | babo 29 30 31 |
|
OneToMany | |
| sax 31 |
|
|
|||
| tkv 31 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | daf-1 31 |
|
|
|
| sma-6 31 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7011 29 |
|
- 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
- Alliance of Genome Resources:
- Additional Orthologs for TGFBR1
Paralogs for TGFBR1 Gene
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
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 |
|---|---|---|---|---|---|
| 1003810 | Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection | 99,147,705(+) |
C/A NM_004612.4(TGFBR1):c.1307C>A (p.Pro436Gln) |
MISSENSE | |
| 1005836 | Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection | 99,129,005(+) |
C/T NM_004612.4(TGFBR1):c.248C>T (p.Pro83Leu) |
MISSENSE | |
| 1022363 | Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection | 99,138,072(+) |
TAGC/T NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del) |
INFRAME_DELETION | |
| 1026429 | Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection | 99,105,255(+) |
T/TGGCGGCGGCGGCG
NM_004612.4(TGFBR1):c.52GCG[14] (p.Ala22_Ala26dup) |
INFRAME_INSERTION | |
| 1028281 | Pathogenic: Loeys-Dietz syndrome 1 | 99,128,995(+) |
C/T NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter) |
NONSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBR1 Gene
Disorders for TGFBR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multiple self-healing squamous epithelioma |
|
|
| loeys-dietz syndrome 1 |
|
|
| loeys-dietz syndrome |
|
|
| familial thoracic aortic aneurysm and aortic dissection |
|
|
| marfan syndrome |
|
|
Search TGFBR1 in MalaCards
View complete list of genes associated with diseases
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for TGFBR1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for TGFBR1 Gene
Publications for TGFBR1 Gene
- Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. (PMID: 21358634) Goudie DR ā¦ Lane EB (Nature genetics 2011) 2 3 4 72
- Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. (PMID: 19542084) Tran-Fadulu V ā¦ Milewicz DM (Journal of medical genetics 2009) 3 22 40 72
- Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. (PMID: 18781618) Stheneur C ā¦ Boileau C (Human mutation 2008) 3 22 40 72
- FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. (PMID: 16596670) Adès LC ā¦ Bennetts B (American journal of medical genetics. Part A 2006) 3 4 22 72
- Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (PMID: 16791849) Mátyás G ā¦ Steinmann B (Human mutation 2006) 3 4 22 72
ExternalLinks
Products for TGFBR1 Gene
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- OriGene qPCR primer pairs for TGFBR1
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- OriGene CRISPR knockouts for TGFBR1
- MG208091
- MR208091
- MR208091L3
- MR208091L4
- RC219514
- RC219514L1
- RC219514L2
- RC219514L3
- RC219514L4
- RC225697
- RC225697L1
- RC225697L2
- RC225697L3
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- RG225697
- RR207251
- RR207251L3
- RR207251L4
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- RC219514L2V
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- ProSpec Recombinant Proteins for TGFBR1
- Taconic Biosciences Mouse Models for TGFBR1
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- Genetically Engineered Models Available Immediately
- Humanized Mice
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- VectorBuilder Custom and pre-made DNA vectors for TGFBR1 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 43 available TGFBR1 Antibodies ranked by validation data
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- 2 FACS Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
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- 42 WB Antibodies (anti-rat)
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- 2 IF Antibodies (anti-rat)
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- Quality Products:
- ABIN416726
- ABIN1572684
- ABIN5523656
- ABIN4993735
- ABIN824758
- ABIN5593972
- ABIN5659461
- ABIN2539879
- ABIN2951743
- ABIN4973221
- ABIN424028
- ABIN1572685
- ABIN824759
- ABIN5659462
- ABIN2539880
- ABIN6221877
- ABIN4973220
- ABIN2044695
- ABIN1161496
- ABIN457270
- ABIN431362
- ABIN5523657
- ABIN5593973
- ABIN5659463
- ABIN4973219
- ABIN6221880
- ABIN6221884
- ABIN1161498
- ABIN5074638
- antibodies-online: Show 21 available TGFBR1 Proteins ranked by validation data
- Compare Top TGFBR1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TGFBR1
- Search Santa Cruz Biotechnology (SCBT) for TGFBR1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TGFBR1
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- Search for TGFBR1 Proteins at ProSci
- Horizon Cell Lines for TGFBR1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TGFBR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TGFBR1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TGFBR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBR1
Sources for TGFBR1 Gene
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- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
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- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
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- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
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- (51) OriGene
- (52) PubMed
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- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
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- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
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- (107) Disease Ontology
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- (111) CDC
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- (115) Gene Damage Index
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- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142)