TGFBR1 (transforming growth factor beta receptor 1)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TGFBR1 (transforming growth factor beta receptor 1)

Identity

Alias_names	53kDa
	MSSE
	ESS1
Alias_symbol (synonym)	ALK-5
	ACVRLK4
	ALK5
Other alias	AAT5
	LDS1
	LDS1A
	LDS2A
	SKR4
	TBR-i
	TBRI
	TGFR-1
	tbetaR-I
HGNC (Hugo)	TGFBR1
LocusID (NCBI)	7046
Atlas_Id	42540
Location	9q22.33 [Link to chromosome band 9q22]
Location_base_pair	Starts at 99105089 and ends at 99154191 bp from pter ( according to hg38-Dec_2013)

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

INVS (9q31.1) / TGFBR1 (9q22.33)

TGFBR1 (9q22.33) / CANX (5q35.3)

Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

DNA/RNA

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Colon: Colorectal adenocarcinoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]

Multiple self-healing squamous epithelioma

External links

	Nomenclature
HGNC (Hugo)	TGFBR1 11772
	Cards
Entrez_Gene (NCBI)	TGFBR1 7046 transforming growth factor beta receptor 1
Aliases	AAT5; ACVRLK4; ALK-5; ALK5;
	ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TBR-i; TBRI; TGFR-1; tbetaR-I
GeneCards (Weizmann)	TGFBR1
Ensembl hg19 (Hinxton)	ENSG00000106799 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000106799 [Gene_View] chr9:99105089-99154191 [Contig_View] TGFBR1 [Vega]
ICGC DataPortal	ENSG00000106799
TCGA cBioPortal	TGFBR1
AceView (NCBI)	TGFBR1
Genatlas (Paris)	TGFBR1
WikiGenes	7046
SOURCE (Princeton)	TGFBR1
Genetics Home Reference (NIH)	TGFBR1
	Genomic and cartography
GoldenPath hg38 (UCSC)	TGFBR1 - chr9:99105089-99154191 + 9q22.33 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	TGFBR1 - 9q22.33 [Description] (hg19-Feb_2009)
Ensembl	TGFBR1 - 9q22.33 [CytoView hg19] TGFBR1 - 9q22.33 [CytoView hg38]
Mapping of homologs : NCBI	TGFBR1 [Mapview hg19] TGFBR1 [Mapview hg38]
OMIM	132800 190181
	Gene and transcription
Genbank (Entrez)	AJ420419 AJ619019 AJ619020 AK002171 AK129793
RefSeq transcript (Entrez)	NM_001130916 NM_001306210 NM_004612
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	TGFBR1
Cluster EST : Unigene	Hs.494622 [ NCBI ]
CGAP (NCI)	Hs.494622
Alternative Splicing Gallery	ENSG00000106799
Gene Expression	TGFBR1 [ NCBI-GEO ] TGFBR1 [ EBI - ARRAY_EXPRESS ] TGFBR1 [ SEEK ] TGFBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)	TGFBR1 [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	7046
GTEX Portal (Tissue expression)	TGFBR1
Human Protein Atlas	ENSG00000106799-TGFBR1 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P36897 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P36897 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P36897
Splice isoforms : SwissVar	P36897
Catalytic activity : Enzyme	2.7.11.30 [ Enzyme-Expasy ] 2.7.11.30 2.7.11.30 [ IntEnz-EBI ] 2.7.11.30 [ BRENDA ] 2.7.11.30 [ KEGG ]
PhosPhoSitePlus	P36897
Domaine pattern : Prosite (Expaxy)	GS (PS51256) PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108)
Domains : Interpro (EBI)	Activin_recp GS_dom Kinase-like_dom Prot_kinase_dom Protein_kinase_ATP_BS Ser/Thr_kinase_AS TGFB_receptor
Domain families : Pfam (Sanger)	Activin_recp (PF01064) Pkinase (PF00069) TGF_beta_GS (PF08515)
Domain families : Pfam (NCBI)	pfam01064 pfam00069 pfam08515
Domain families : Smart (EMBL)	GS (SM00467) S_TKc (SM00220)
Conserved Domain (NCBI)	TGFBR1
DMDM Disease mutations	7046
Blocks (Seattle)	TGFBR1
PDB (SRS)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
PDB (PDBSum)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
PDB (IMB)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
PDB (RSDB)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
Structural Biology KnowledgeBase	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
SCOP (Structural Classification of Proteins)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
CATH (Classification of proteins structures)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI
Superfamily	P36897
Human Protein Atlas [tissue]	ENSG00000106799-TGFBR1 [tissue]
Peptide Atlas	P36897
HPRD	01822
IPI	IPI00005733 IPI01018344 IPI00844074 IPI01014570 IPI01010650 IPI01021053 IPI01021173 IPI01022170 IPI01022370 IPI01021295 IPI01022749 IPI01022905
	Protein Interaction databases
DIP (DOE-UCLA)	P36897
IntAct (EBI)	P36897
FunCoup	ENSG00000106799
BioGRID	TGFBR1
STRING (EMBL)	TGFBR1
ZODIAC	TGFBR1
	Ontologies - Pathways
QuickGO	P36897
Ontology : AmiGO	activation of MAPKK activity skeletal system development in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation lens development in camera-type eye ventricular trabecula myocardium morphogenesis ventricular compact myocardium morphogenesis proepicardium development protein kinase activity protein serine/threonine kinase activity signal transducer, downstream of receptor, with serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I signal transducer activity, downstream of receptor type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding endosome plasma membrane plasma membrane bicellular tight junction regulation of transcription, DNA-templated regulation of transcription, DNA-templated protein phosphorylation apoptotic process cell cycle arrest signal transduction transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway heart development positive regulation of cell proliferation germ cell migration male gonad development post-embryonic development anterior/posterior pattern specification cell surface positive regulation of gene expression regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation protein deubiquitination peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding signal transduction by protein phosphorylation collagen fibril organization positive regulation of cell growth positive regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway regulation of protein ubiquitination negative regulation of chondrocyte differentiation activin receptor signaling pathway intracellular signal transduction wound healing endothelial cell activation extracellular structure organization intracellular membrane-bounded organelle receptor complex regulation of protein binding endothelial cell migration membrane raft positive regulation of transcription, DNA-templated SMAD binding SMAD binding metal ion binding thymus development neuron fate commitment embryonic cranial skeleton morphogenesis skeletal system morphogenesis mesenchymal cell differentiation artery morphogenesis cell motility transforming growth factor beta binding transforming growth factor beta binding transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly positive regulation of protein kinase B signaling parathyroid gland development palate development pharyngeal system development regulation of cardiac muscle cell proliferation cardiac epithelial to mesenchymal transition pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein import into nucleus ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis transforming growth factor beta receptor complex I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of occluding junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway
Ontology : EGO-EBI	activation of MAPKK activity skeletal system development in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation lens development in camera-type eye ventricular trabecula myocardium morphogenesis ventricular compact myocardium morphogenesis proepicardium development protein kinase activity protein serine/threonine kinase activity signal transducer, downstream of receptor, with serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I signal transducer activity, downstream of receptor type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding endosome plasma membrane plasma membrane bicellular tight junction regulation of transcription, DNA-templated regulation of transcription, DNA-templated protein phosphorylation apoptotic process cell cycle arrest signal transduction transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway heart development positive regulation of cell proliferation germ cell migration male gonad development post-embryonic development anterior/posterior pattern specification cell surface positive regulation of gene expression regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation protein deubiquitination peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding signal transduction by protein phosphorylation collagen fibril organization positive regulation of cell growth positive regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway regulation of protein ubiquitination negative regulation of chondrocyte differentiation activin receptor signaling pathway intracellular signal transduction wound healing endothelial cell activation extracellular structure organization intracellular membrane-bounded organelle receptor complex regulation of protein binding endothelial cell migration membrane raft positive regulation of transcription, DNA-templated SMAD binding SMAD binding metal ion binding thymus development neuron fate commitment embryonic cranial skeleton morphogenesis skeletal system morphogenesis mesenchymal cell differentiation artery morphogenesis cell motility transforming growth factor beta binding transforming growth factor beta binding transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly positive regulation of protein kinase B signaling parathyroid gland development palate development pharyngeal system development regulation of cardiac muscle cell proliferation cardiac epithelial to mesenchymal transition pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein import into nucleus ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis transforming growth factor beta receptor complex I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of occluding junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway
Pathways : BIOCARTA	Role of Tob in T-cell activation [Genes] MAPKinase Signaling Pathway [Genes] NFkB activation by Nontypeable Hemophilus influenzae [Genes] CTCF: First Multivalent Nuclear Factor [Genes] TGF beta signaling pathway [Genes] ALK in cardiac myocytes [Genes] Function of SLRP in Bone: An Integrated View [Genes] p38 MAPK Signaling Pathway [Genes]
Pathways : KEGG	Cytokine-cytokine receptor interaction Colorectal cancer Adherens junction TGF-beta signaling pathway MAPK signaling pathway
NDEx Network	TGFBR1
Atlas of Cancer Signalling Network	TGFBR1
Wikipedia pathways	TGFBR1
	Orthology - Evolution
OrthoDB	7046
GeneTree (enSembl)	ENSG00000106799
Phylogenetic Trees/Animal Genes : TreeFam	TGFBR1
HOVERGEN	P36897
HOGENOM	P36897
Homologs : HomoloGene	TGFBR1
Homology/Alignments : Family Browser (UCSC)	TGFBR1
	Gene fusions - Rearrangements
Fusion : Quiver	TGFBR1
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	TGFBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	TGFBR1
dbVar	TGFBR1
ClinVar	TGFBR1
1000_Genomes	TGFBR1
Exome Variant Server	TGFBR1
ExAC (Exome Aggregation Consortium)	ENSG00000106799
GNOMAD Browser	ENSG00000106799
Genetic variants : HAPMAP	7046
Genomic Variants (DGV)	TGFBR1 [DGVbeta]
DECIPHER	TGFBR1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	TGFBR1
	Mutations
ICGC Data Portal	TGFBR1
TCGA Data Portal	TGFBR1
Broad Tumor Portal	TGFBR1
OASIS Portal	TGFBR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	TGFBR1 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	TGFBR1
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
BioMuta	search TGFBR1
DgiDB (Drug Gene Interaction Database)	TGFBR1
DoCM (Curated mutations)	TGFBR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	TGFBR1 (select a term)
intoGen	TGFBR1
Cancer3D	TGFBR1(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	132800 190181
Orphanet	10877 10799 12138
DisGeNET	TGFBR1
Medgen	TGFBR1
Genetic Testing Registry	TGFBR1
NextProt	P36897 [Medical]
TSGene	7046
GENETests	TGFBR1
Target Validation	TGFBR1
Huge Navigator	TGFBR1 [HugePedia]
snp3D : Map Gene to Disease	7046
BioCentury BCIQ	TGFBR1
ClinGen	TGFBR1 (curated)
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	7046
Chemical/Pharm GKB Gene	PA36485
Clinical trial	TGFBR1
	Miscellaneous
canSAR (ICR)	TGFBR1 (select the gene name)
	Probes
	Litterature
PubMed	444 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	TGFBR1
EVEX	TGFBR1
GoPubMed	TGFBR1
iHOP	TGFBR1

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon May 14 12:23:32 CEST 2018

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Atlas of Genetics and Cytogenetics in Oncology and Haematology

TGFBR1 (transforming growth factor beta receptor 1)

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to How to contribute