TGFBR1 (transforming growth factor, beta receptor 1)

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

TGFBR1 (transforming growth factor, beta receptor 1)

Identity

Other names	AAT5
	ACVRLK4
	ALK-5
	ALK5
	ESS1
	LDS1
	LDS1A
	LDS2A
	MSSE
	SKR4
	TGFR-1
HGNC (Hugo)	TGFBR1
LocusID (NCBI)	7046
Location	9q22.33
Location_base_pair	Starts at 101867412 and ends at 101916473 bp from pter ( according to hg19-Feb_2009)
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

External links

	Nomenclature
HGNC (Hugo)	TGFBR1 11772
	Cards
Entrez_Gene (NCBI)	TGFBR1 7046 transforming growth factor, beta receptor 1
GeneCards (Weizmann)	TGFBR1
Ensembl hg19 (Hinxton)	ENSG00000106799 [Gene_View] chr9:101867412-101916473 [Contig_View] TGFBR1 [Vega]
Ensembl hg38 (Hinxton)	ENSG00000106799 [Gene_View] chr9:101867412-101916473 [Contig_View] TGFBR1 [Vega]
ICGC DataPortal	ENSG00000106799
cBioPortal	TGFBR1
AceView (NCBI)	TGFBR1
Genatlas (Paris)	TGFBR1
WikiGenes	7046
SOURCE (Princeton)	TGFBR1
	Genomic and cartography
GoldenPath hg19 (UCSC)	TGFBR1 - chr9:101867412-101916473 + 9q22.33 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	TGFBR1 - 9q22.33 [Description] (hg38-Dec_2013)
Ensembl	TGFBR1 - 9q22.33 [CytoView hg19] TGFBR1 - 9q22.33 [CytoView hg38]
Mapping of homologs : NCBI	TGFBR1 [Mapview hg19] TGFBR1 [Mapview hg38]
OMIM	132800 190181 609192
	Gene and transcription
Genbank (Entrez)	AJ420419 AJ619019 AJ619020 AK002171 AK129793
RefSeq transcript (Entrez)	NM_001130916 NM_004612
RefSeq genomic (Entrez)	AC_000141 NC_000009 NC_018920 NG_007461 NT_008470 NW_001839236 NW_004929366
Consensus coding sequences : CCDS (NCBI)	TGFBR1
Cluster EST : Unigene	Hs.494622 [ NCBI ]
CGAP (NCI)	Hs.494622
Alternative Splicing : Fast-db (Paris)	GSHG0030313
Alternative Splicing Gallery	ENSG00000106799
Gene Expression	TGFBR1 [ NCBI-GEO ] TGFBR1 [ SEEK ] TGFBR1 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P36897 (Uniprot)
NextProt	P36897 [Medical]
With graphics : InterPro	P36897
Splice isoforms : SwissVar	P36897 (Swissvar)
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 ]
Domaine pattern : Prosite (Expaxy)	GS (PS51256) PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108)
Domains : Interpro (EBI)	Activin_rcpt Kinase-like_dom Prot_kinase_dom Protein_kinase_ATP_BS Ser/Thr_kinase_AS TGF_beta_rcpt_GS TGFB_receptor
Related proteins : CluSTr	P36897
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)
DMDM Disease mutations	7046
Blocks (Seattle)	P36897
PDB (SRS)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM
PDB (PDBSum)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM
PDB (IMB)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM
PDB (RSDB)	1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM
Human Protein Atlas	ENSG00000106799
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
IntegromeDB	TGFBR1
STRING (EMBL)	TGFBR1
	Ontologies - Pathways
QuickGO	P36897
Ontology : AmiGO	activation of MAPKK activity skeletal system development angiogenesis in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation lens development in camera-type eye protein kinase activity protein serine/threonine kinase activity receptor signaling 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 type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding plasma membrane plasma membrane 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 heart development positive regulation of cell proliferation germ cell migration post-embryonic development anterior/posterior pattern specification positive regulation of pathway-restricted SMAD protein phosphorylation peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding signal transduction by phosphorylation collagen fibril organization positive regulation of cell growth negative regulation of transforming growth factor beta receptor signaling pathway regulation of protein ubiquitination negative regulation of chondrocyte differentiation wound healing extracellular structure organization negative regulation of apoptotic process receptor complex regulation of protein binding endothelial cell migration 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 protein kinase B signaling parathyroid gland development palate development pharyngeal system development pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein import into nucleus transforming growth factor beta receptor homodimeric complex I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway
Ontology : EGO-EBI	activation of MAPKK activity skeletal system development angiogenesis in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation lens development in camera-type eye protein kinase activity protein serine/threonine kinase activity receptor signaling 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 type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding plasma membrane plasma membrane 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 heart development positive regulation of cell proliferation germ cell migration post-embryonic development anterior/posterior pattern specification positive regulation of pathway-restricted SMAD protein phosphorylation peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding signal transduction by phosphorylation collagen fibril organization positive regulation of cell growth negative regulation of transforming growth factor beta receptor signaling pathway regulation of protein ubiquitination negative regulation of chondrocyte differentiation wound healing extracellular structure organization negative regulation of apoptotic process receptor complex regulation of protein binding endothelial cell migration 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 protein kinase B signaling parathyroid gland development palate development pharyngeal system development pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein import into nucleus transforming growth factor beta receptor homodimeric complex I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus 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	MAPK 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
Protein Interaction Database	TGFBR1
DoCM (Curated mutations)	TGFBR1
Wikipedia pathways	TGFBR1
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	TGFBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	TGFBR1
dbVar	TGFBR1
ClinVar	TGFBR1
1000_Genomes	TGFBR1
Exome Variant Server	TGFBR1
SNP (GeneSNP Utah)	TGFBR1
SNP : HGBase	TGFBR1
Genetic variants : HAPMAP	TGFBR1
Genomic Variants (DGV)	TGFBR1 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000106799
Somatic Mutations in Cancer : COSMIC	TGFBR1
CONAN: Copy Number Analysis	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
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	9:101867412-101916473
Mutations and Diseases : HGMD	TGFBR1
OMIM	132800 190181 609192
Medgen	TGFBR1
NextProt	P36897 [Medical]
GENETests	TGFBR1
Disease Genetic Association	TGFBR1
Huge Navigator	TGFBR1 [HugePedia] TGFBR1 [HugeCancerGEM]
snp3D : Map Gene to Disease	7046
DGIdb (Drug Gene Interaction db)	TGFBR1
	General knowledge
Homologs : HomoloGene	TGFBR1
Homology/Alignments : Family Browser (UCSC)	TGFBR1
Phylogenetic Trees/Animal Genes : TreeFam	TGFBR1
Chemical/Protein Interactions : CTD	7046
Chemical/Pharm GKB Gene	PA36485
Clinical trial	TGFBR1
Cancer Resource (Charite)	ENSG00000106799
	Other databases
	Probes
	Litterature
PubMed	368 Pubmed reference(s) in Entrez
CoreMine	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

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 19:00:24 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.