TGFBR1 (transforming growth factor beta receptor 1)

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TGFBR1 (transforming growth factor beta receptor 1)

Identity

Alias (NCBI)	AAT5
	ACVRLK4
	ALK-5
	ALK5
	ESS1
	LDS1
	LDS1A
	LDS2A
	MSSE
	SKR4
	TBR-i
	TBRI
	TGFR-1
	tbetaR-I
HGNC (Hugo)	TGFBR1
HGNC Alias symb	ALK-5
	ACVRLK4
	ALK5
	TBRI
	TBR-i
HGNC Alias name	activin A receptor type II-like kinase, 53kDa
HGNC Previous name	MSSE
	ESS1
HGNC Previous name	multiple self-healing squamous epithelioma
	transforming growth factor beta receptor I
LocusID (NCBI)	7046
Atlas_Id	42540
Location	9q22.33 [Link to chromosome band 9q22]
Location_base_pair	Starts at 99105113 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 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 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] ENSG00000106799 [Sequence] chr9:99105113-99154191 [Contig_View] TGFBR1 [Vega]
ICGC DataPortal	ENSG00000106799
TCGA cBioPortal	TGFBR1
AceView (NCBI)	TGFBR1
Genatlas (Paris)	TGFBR1
SOURCE (Princeton)	TGFBR1
Genetics Home Reference (NIH)	TGFBR1
	Genomic and cartography
GoldenPath hg38 (UCSC)	TGFBR1 - chr9:99105113-99154191 + 9q22.33 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	TGFBR1 - 9q22.33 [Description] (hg19-Feb_2009)
GoldenPath	TGFBR1 - 9q22.33 [CytoView hg19] TGFBR1 - 9q22.33 [CytoView hg38]
ImmunoBase	ENSG00000106799
Genome Data Viewer NCBI	TGFBR1 [Mapview hg19]
OMIM	132800 190181 609192
	Gene and transcription
Genbank (Entrez)	AJ420419 AJ619019 AJ619020 AK002171 AK129793
RefSeq transcript (Entrez)	NM_001130916 NM_001306210 NM_004612
Consensus coding sequences : CCDS (NCBI)	TGFBR1
Gene Expression	TGFBR1 [ NCBI-GEO ] TGFBR1 [ EBI - ARRAY_EXPRESS ] TGFBR1 [ SEEK ] TGFBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)	TGFBR1 [ Firebrowse - Broad ]
Genevisible	Expression of TGFBR1 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
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 ] [ MEROPS ]
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_sf 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
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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
PDB Europe	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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
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 5QIK 5QIL 5QIM 5QTZ 5QU0 5USQ 6B8Y 6MAC
Superfamily	P36897
AlphaFold pdb e-kb	P36897
Human Protein Atlas [tissue]	ENSG00000106799-TGFBR1 [tissue]
HPRD	01822
	Protein Interaction databases
DIP (DOE-UCLA)	P36897
IntAct (EBI)	P36897
BioGRID	TGFBR1
STRING (EMBL)	TGFBR1
ZODIAC	TGFBR1
	Ontologies - Pathways
QuickGO	P36897
Ontology : AmiGO	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 protein 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 transforming growth factor beta receptor activity, type I type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding nucleus endosome plasma membrane plasma membrane plasma membrane bicellular tight junction regulation of transcription, DNA-templated regulation of transcription, DNA-templated protein phosphorylation protein phosphorylation apoptotic process 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 nervous system development heart development heart development positive regulation of cell population 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 activin receptor activity, type I peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding collagen fibril organization positive regulation of cell growth positive regulation of cell migration regulation of protein ubiquitination negative regulation of chondrocyte differentiation activin receptor signaling pathway activin receptor signaling pathway intracellular signal transduction wound healing endothelial cell activation extracellular structure organization receptor complex receptor complex regulation of protein binding positive regulation of MAPK cascade endothelial cell migration membrane raft positive regulation of transcription, DNA-templated SMAD binding SMAD binding SMAD binding metal ion binding activin receptor complex activin 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 transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly regulation of cell cycle positive regulation of protein kinase B signaling parathyroid gland development roof of mouth 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 signal transduction ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis transforming growth factor beta ligand-receptor complex I-SMAD binding response to cholesterol cellular response to growth factor stimulus cellular response to transforming growth factor beta stimulus positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of tight junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway
Ontology : EGO-EBI	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 protein 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 transforming growth factor beta receptor activity, type I type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding nucleus endosome plasma membrane plasma membrane plasma membrane bicellular tight junction regulation of transcription, DNA-templated regulation of transcription, DNA-templated protein phosphorylation protein phosphorylation apoptotic process 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 nervous system development heart development heart development positive regulation of cell population 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 activin receptor activity, type I peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding collagen fibril organization positive regulation of cell growth positive regulation of cell migration regulation of protein ubiquitination negative regulation of chondrocyte differentiation activin receptor signaling pathway activin receptor signaling pathway intracellular signal transduction wound healing endothelial cell activation extracellular structure organization receptor complex receptor complex regulation of protein binding positive regulation of MAPK cascade endothelial cell migration membrane raft positive regulation of transcription, DNA-templated SMAD binding SMAD binding SMAD binding metal ion binding activin receptor complex activin 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 transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly regulation of cell cycle positive regulation of protein kinase B signaling parathyroid gland development roof of mouth 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 signal transduction ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis transforming growth factor beta ligand-receptor complex I-SMAD binding response to cholesterol cellular response to growth factor stimulus cellular response to transforming growth factor beta stimulus positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of tight junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway
Pathways : BIOCARTA	BIOCARTA_ALKPATHWAY BIOCARTA_CTCFPATHWAY BIOCARTA_MAPKPATHWAY BIOCARTA_NTHIPATHWAY BIOCARTA_P38MAPKPATHWAY BIOCARTA_TOB1PATHWAY BIOCARTA_TGFBPATHWAY
Pathways : KEGG	KEGG_MAPK_SIGNALING KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION KEGG_TGF_BETA_SIGNALING KEGG_ADHERENS_JUNCTION KEGG_PATHWAYS_IN_CANCER KEGG_COLORECTAL_CANCER KEGG_PANCREATIC_CANCER KEGG_CHRONIC_MYELOID_LEUKEMIA
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
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
Monarch	TGFBR1
1000_Genomes	TGFBR1
Exome Variant Server	TGFBR1
GNOMAD Browser	ENSG00000106799
Varsome Browser	TGFBR1
ACMG	TGFBR1 variants
Varity	P36897
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]
Somatic Mutations in Cancer : COSMIC3D	TGFBR1
Mutations and Diseases : HGMD	TGFBR1
LOVD (Leiden Open Variation Database)	[gene] [transcripts] [variants]
BioMuta	TGFBR1
DgiDB (Drug Gene Interaction Database)	TGFBR1
DoCM (Curated mutations)	TGFBR1
CIViC (Clinical Interpretations of Variants in Cancer)	TGFBR1
Cancer3D	TGFBR1
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	132800 190181 609192
Orphanet	10877 10799 12138
DisGeNET	TGFBR1
Medgen	TGFBR1
Genetic Testing Registry	TGFBR1
NextProt	P36897 [Medical]
GENETests	TGFBR1
Target Validation	TGFBR1
Huge Navigator	TGFBR1 [HugePedia]
ClinGen	TGFBR1 (curated)
	Clinical trials, drugs, therapy
MyCancerGenome	TGFBR1
Protein Interactions : CTD	TGFBR1
Pharm GKB Gene	PA36485
Pharos	P36897
Clinical trial	TGFBR1
	Miscellaneous
canSAR (ICR)	TGFBR1
Harmonizome	TGFBR1
ARCHS4	TGFBR1
DataMed Index	TGFBR1
	Probes
	Litterature
PubMed	499 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
EVEX	TGFBR1

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

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indexed on : Thu Jan 20 13:02:41 CET 2022

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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