Atlas of Genetics and Cytogenetics in Oncology and Haematology

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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 symbALK-5
ACVRLK4
ALK5
TBRI
TBR-i
HGNC Alias nameactivin A receptor type II-like kinase, 53kDa
HGNC Previous nameMSSE
 ESS1
HGNC Previous namemultiple 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 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
AliasesAAT5; 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 DataPortalENSG00000106799
TCGA cBioPortalTGFBR1
AceView (NCBI)TGFBR1
Genatlas (Paris)TGFBR1
WikiGenes7046
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)
GoldenPathTGFBR1 - 9q22.33 [CytoView hg19]  TGFBR1 - 9q22.33 [CytoView hg38]
ImmunoBaseENSG00000106799
genome Data Viewer NCBITGFBR1 [Mapview hg19]  
OMIM132800   190181   609192   
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
Alternative Splicing GalleryENSG00000106799
Gene ExpressionTGFBR1 [ NCBI-GEO ]   TGFBR1 [ EBI - ARRAY_EXPRESS ]   TGFBR1 [ SEEK ]   TGFBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)TGFBR1 [ Firebrowse - Broad ]
GenevisibleExpression of TGFBR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7046
GTEX Portal (Tissue expression)TGFBR1
Human Protein AtlasENSG00000106799-TGFBR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36897   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36897  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36897
Splice isoforms : SwissVarP36897
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP36897
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
DMDM Disease mutations7046
Blocks (Seattle)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    5USQ    6B8Y    6MAC   
PDB Europe1B6C    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    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    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    5USQ    6B8Y    6MAC   
Structural Biology KnowledgeBase1B6C    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    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    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    5USQ    6B8Y    6MAC   
SuperfamilyP36897
Human Protein Atlas [tissue]ENSG00000106799-TGFBR1 [tissue]
Peptide AtlasP36897
HPRD01822
IPIIPI00005733   IPI01018344   IPI00844074   IPI01014570   IPI01010650   IPI01021053   IPI01021173   IPI01022170   IPI01022370   IPI01021295   IPI01022749   IPI01022905   
Protein Interaction databases
DIP (DOE-UCLA)P36897
IntAct (EBI)P36897
FunCoupENSG00000106799
BioGRIDTGFBR1
STRING (EMBL)TGFBR1
ZODIACTGFBR1
Ontologies - Pathways
QuickGOP36897
Ontology : AmiGOactivation 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  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  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  transforming growth factor beta receptor signaling pathway  nervous system development  heart development  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  activin receptor activity, type I  protein deubiquitination  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  growth factor binding  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  activin receptor signaling pathway  intracellular signal transduction  wound healing  endothelial cell activation  extracellular structure organization  receptor complex  receptor complex  regulation of protein binding  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  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  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-EBIactivation 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  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  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  transforming growth factor beta receptor signaling pathway  nervous system development  heart development  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  activin receptor activity, type I  protein deubiquitination  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  growth factor binding  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  activin receptor signaling pathway  intracellular signal transduction  wound healing  endothelial cell activation  extracellular structure organization  receptor complex  receptor complex  regulation of protein binding  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  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  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 : KEGGMAPK signaling pathway    Cytokine-cytokine receptor interaction    FoxO signaling pathway    Endocytosis    TGF-beta signaling pathway    Osteoclast differentiation    Hippo signaling pathway    Adherens junction    Chagas disease (American trypanosomiasis)    Hepatitis B    HTLV-I infection    Pathways in cancer    Colorectal cancer    Pancreatic cancer    Chronic myeloid leukemia   
NDEx NetworkTGFBR1
Atlas of Cancer Signalling NetworkTGFBR1
Wikipedia pathwaysTGFBR1
Orthology - Evolution
OrthoDB7046
GeneTree (enSembl)ENSG00000106799
Phylogenetic Trees/Animal Genes : TreeFamTGFBR1
HOGENOMP36897
Homologs : HomoloGeneTGFBR1
Homology/Alignments : Family Browser (UCSC)TGFBR1
Gene fusions - Rearrangements
Fusion : QuiverTGFBR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTGFBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TGFBR1
dbVarTGFBR1
ClinVarTGFBR1
MonarchTGFBR1
1000_GenomesTGFBR1 
Exome Variant ServerTGFBR1
GNOMAD BrowserENSG00000106799
Varsome BrowserTGFBR1
Genetic variants : HAPMAP7046
Genomic Variants (DGV)TGFBR1 [DGVbeta]
DECIPHERTGFBR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTGFBR1 
Mutations
ICGC Data PortalTGFBR1 
TCGA Data PortalTGFBR1 
Broad Tumor PortalTGFBR1
OASIS PortalTGFBR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTGFBR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTGFBR1
Mutations and Diseases : HGMDTGFBR1
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
BioMutasearch 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)
intoGenTGFBR1
Cancer3DTGFBR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM132800    190181    609192   
Orphanet10877    10799    12138   
DisGeNETTGFBR1
MedgenTGFBR1
Genetic Testing Registry TGFBR1
NextProtP36897 [Medical]
TSGene7046
GENETestsTGFBR1
Target ValidationTGFBR1
Huge Navigator TGFBR1 [HugePedia]
snp3D : Map Gene to Disease7046
BioCentury BCIQTGFBR1
ClinGenTGFBR1 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD7046
Pharm GKB GenePA36485
Clinical trialTGFBR1
Miscellaneous
canSAR (ICR)TGFBR1 (select the gene name)
HarmonizomeTGFBR1
DataMed IndexTGFBR1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTGFBR1
EVEXTGFBR1
GoPubMedTGFBR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:35:57 CEST 2020
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