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TGFBR1 Gene

protein-coding GIFtS: 71

GC09P100907

transforming growth factor, beta receptor 1
(Previous names: transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
AAT5 ^², ⁵
ACVRLK4 ^¹, ²
ALK-5 ^¹, ², ³
ALK5 ^², ⁵
EC 2.7.11.30 ^³
LDS1A ^², ⁵
LDS2A ^², ⁵
OTTHUMP00000021783 ^²
SKR4 ^², ³
TGFR-1 ^², ³
TbetaR-I ^³

Descriptions
Activin receptor-like kinase 5 ^², ³
Serine/threonine-protein kinase receptor R4 ^², ³
TGF-beta receptor type I ^³
TGF-beta type I receptor ^³
Transforming growth factor-beta receptor type I ^³
activin A receptor type II-like kinase, 53kD ^²
activin A receptor type II-like kinase, 53kDa ^²
transforming growth factor beta receptor I ^²
transforming growth factor, beta receptor 1 ^²
transforming growth factor, beta receptor I ^²
transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) ^¹, ²

External Ids
HGNC: 11772¹
Entrez Gene: 7046²
UniProtKB: P36897³
Ensembl: ENSG00000106799⁷

Search outside databases for aliases for TGFBR1 gene

Previous GC identifers: GC09P092667 GC09P093610 GC09P095324 GC09P097247 GC09P098946

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TGFBR1:

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]

UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I

transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I

receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.

Receptor for TGF-beta

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TGFBR1 gene

Entrez Gene cytogenetic band: 9q22 Ensembl cytogenetic band: 9q22.33 HGNC cytogenetic band: 9q22

TGFBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P100907: (about GC identifiers)

Start:	100,907,233 bp from pter
End:	100,956,295 bp from pter
Size:	49,063 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000009.10 NT_008470.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897 (See protein sequence)

Recommended Name: TGF-beta receptor type-1 precursor

Size: 503 amino acids; 55960 Da

Cofactor: Magnesium or manganese (By similarity)

Subunit: Interacts with CD109. The unphosphorylated protein interacts with FKBP1A and is stabilized

the inactive conformation. Phosphorylation of the GS region abrogates FKBP1A binding. Interacts

with SMAD2 when phosphorylated on several residues in the GS region

Subcellular location: Membrane; Single-pass type I membrane protein

PDB structures from and Proteopedia :

1B6C (3D)

1IAS (3D)

1PY5 (3D)

1RW8 (3D)

1TBI (3D)

1VJY (3D)

2PJY (3D)

3FAA (3D)

3GXJ (3D)

3GXL (3D)

Post-translational modifications:

Phosphorylated at basal levels in the absence of ligand binding. Activated by multiple

phosphorylation, mainly in the GS region¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001124388.1 NP_004603.1

ENSEMBL proteins:

ENSP00000364133 ENSP00000364129

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TGF beta Receptor I)
	Human Recombinant Proteins from Abnova (TGFBR1)

OriGene Purified Recombinant Human Protein: TGFBR1

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	EXP	9865696 11100470
GO:0016021	integral to membrane	IEA	--
GO:0070022	transforming growth factor beta receptor complex	IC	1326540

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Antibodies for TGFBR1:

	Invitrogen Antibodies for TGFBR1
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	R&D Systems Antibodies for TGFBR1 (TGF-beta RI/ALK-5)
	Cell Signaling Technology (CST) Antibodies for TGFBR1 (TGF-beta receptor I)
	Antibodies from Abcam (TGF beta Receptor I), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TGFBR1)
	Novus Biologicals Antibodies for TGFBR1

Assays for TGFBR1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P36897

ProtoNet protein and cluster: P36897

1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897

Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB

receptor subfamily

Similarity: Contains 1 GS domain

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TGFBR1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TGFBR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001130916

Applied Biosystems Silencer® siRNAs for TGFBR1

Sigma-Aldrich siRNA and siRNA Panels for TGFBR1

Sigma-Aldrich shRNA Panels and shRNA for TGFBR1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001130916
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001130916
untagged cDNA clones in CMV expression vector (see all 2): NM_001130916

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_004612

UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I

transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I

receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.

Receptor for TGF-beta

Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

Enzyme Number (IUBMB): EC 2.7.11.30

Genatlas biochemistry entry for TGFBR1:

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

9 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Tgfbr1):

	cellular	embryogenesis	growth/size	hematopoietic system
lethality-prenatal/perinatal	muscle	nervous system	tumorigenesis

5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0004674	protein serine/threonine kinase activity	IDA	12065756
GO:0004872	receptor activity	IEA	--
GO:0005025	transforming growth factor beta receptor activity, type I	IDA	8752209

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/13 Sigma-Aldrich "Your Favorite Gene" Pathways for TGFBR1 (Your Favorite Gene powered by Ingenuity) (see all 13 )

TGF-&beta
Factors Promoting Cardiogenesis in Vertebrates
PPAR&alpha
Tight Junction Signaling
p38 MAPK Signaling

GeneDecks TGFBR1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for TGFBR1

5/103 Interacting proteins for TGFBR1 (P36897^{1, 2} ENSP00000364133³) via UniProtKB, MINT, and/or STRING (see all 103 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD2	Q15796², ENSP00000262160³	MINT-6799216 STRING (score=.999)
STRAP	Q9Y3F4¹, ENSP00000025399³	EBI-1027557, EBI-727414 STRING (score=.986)
ENG	ENSP00000362299³	STRING (score=.999)
FKBP1A	ENSP00000371138³	STRING (score=.999)
SMAD3	ENSP00000332973³	STRING (score=.999)

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5/27 Gene Ontology (GO) biological process terms (links to tree view) (see all 27 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000186	activation of MAPKK activity	IDA	18625725
GO:0001701	in utero embryonic development	ISS	--
GO:0001822	kidney development	ISS	--
GO:0007165	signal transduction	IDA	14633705
GO:0007507	heart development	ISS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for TGFBR1:

Inhibitor

Compounds for TGFBR1 available from Tocris Bioscience

Compound	Action	CAS number
LY 364947	Selective inhibitor of TGF-betaRI	[396129-53-6]
A 83-01	Selective inhibitor of TGF-betaRI, ALK4 and ALK7	[909910-43-6]
SB 525334	Selective inhibitor of TGF-betaRI	[356559-20-1]
D 4476	Selective CK1 inhibitor. Also inhibits TGF-betaRI	[301836-43-1]
SD 208	Potent ATP-competitive TGF-betaRI inhibitor	[627536-09-8]

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10/12 Novoseek chemical compound relationships for TGFBR1 gene (see all 12 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tgf beta1	78.03	20	16762882 (4), 17071858 (2), 10208456 (1), 9709980 (1) (see all 14)
threonine	67.03	13	10997691 (1), 8044838 (1), 8576253 (1), 12606401 (1) (see all 12)
ribonucleic acid	14.43	2	8636304 (1), 10819793 (1)
matrigel	5.13	2	16407850 (1), 9139855 (1)
nitric oxide	4.97	1	12027535 (1)
lipid	2.76	1	19056678 (1)
glucose	0.93	2	8866414 (1), 11178962 (1)
oligonucleotide	0.50	3	12384983 (2), 15840021 (1)
chi 2	0.00	1	15382067 (1)
steroid	0.00	2	15775557 (1), 10819793 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TGFBR1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TGFBR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001130916

Sigma-Aldrich siRNA and siRNA Panels for TGFBR1

Sigma-Aldrich shRNA Panels and shRNA for TGFBR1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001130916 NM_004612

REFSEQ mRNAs for TGFBR1 gene (2 alternative transcripts):

NM_001130916.1 NM_004612.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001130916 NM_004612

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001130916
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001130916
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001130916

Additional cDNA sequence:

AJ420419.1 AJ619019.1 AJ619020.1 AK002171.1 AK129793.1 AK302059.1 AK302234.1 AL117597.1

BC038347.1 BC056247.1 BC071181.1 BX648917.1 CR607288.1 L11695.1

14 DOTS entries:

DT.99954952 DT.91865585 DT.444189 DT.86853546 DT.435429 DT.121169149 DT.100790430 DT.121169150

DT.95256903 DT.101977267 DT.121169110 DT.75182985 DT.92463787 DT.95275649

24/228 AceView cDNA sequences (see all 228 ):

BX282486 AA570014 BM472996 AI627324 AW339527 BC056247 AL698812 CR607288

BQ434440 BC038347 BC071181 AI096476 BG677949 AA491151 AU140082 AI888162

BG539642 AA256814 AA565660 AU156571 AI400980 CB143622 CF242945 AA126992

highest scoring ESTs for TGFBR1:

AA420479 AA604375 L11695 AA035307 AA035308 AA065097 AA126992 AA256814 AA347895 AA347896

Unigene Cluster for TGFBR1:

Transforming growth factor, beta receptor 1

Hs.494622 [show with all ESTs]

Unigene Representative Sequence: NM_004612

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR1 (see all 9 )

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:					-		-		-		-		-		-

About this scheme

ECgene alternative splicing isoforms for TGFBR1

2 Ensembl transcripts including schematic representations:

ENST00000374994 ENST00000374990

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TGFBR1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TGFBR1

¹ / ² / ³

10 probe-sets matching TGFBR1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
49222_at²^{, 3}	U95-B	1	1.00	1.00	0.83	0.66	N64801	0.80	1.00	0.91	1
32903_at²^{, 3}	U95-A	1	1.00	1.00	0.47	0.34	L11695	1.00	1.00	1.00	1
1957_s_at²^{, 3}	U95-A	1	1.00	1.00	0.51	0.45	AF054598	0.20	1.00	0.72	1
52307_at²^{, 3}	U95-B	1	1.00	1.00	0.91	1.39	AA582926	0.80	1.00	0.91	1
44127_at²^{, 3}	U95-B	1	1.00	1.00	0.95	1.38	AA604375	1.00	1.00	1.00	1
52539_at²^{, 3}	U95-B	1	1.00	1.00	0.89	1.15	AA420479	1.00	1.00	1.00	1
224793_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AA604375	1.00	1.00	1.00	1
206943_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_004612	0.60	1.00	0.82	1
224793_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206943_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TGFBR1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.494622
Expression variation in blood from EXPOLDB for TGFBR1
UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897
Tissue specificity: Found in all tissues examined, most abundant in placenta and least abundant in
brain and heart

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TGFBR1 gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TGFBR1¹	--	transforming growth factor, beta receptor I (activin more	94.34(n) 99.15(a)	481628 XM_538750.2 XP_538750.2
chimpanzee (Pan troglodytes)	TGFBR1¹	--	transforming growth factor, beta receptor 1	99.87(n) 99.8(a)	472992 XM_001159299.1 XP_001159299.1
cow (Bos taurus)	TGFBR1¹	--	transforming growth factor, beta receptor 1	93.59(n) 97.19(a)	282382 NM_174621.2 NP_777046.1
rat (Rattus norvegicus)	Tgfbr1¹	--	transforming growth factor, beta receptor 1	90.48(n) 97.18(a)	29591 NM_012775.2 NP_036907.2
mouse (Mus musculus)	Tgfbr1^{1, 5}	4 (19.30 cM)⁵	transforming growth factor, beta receptor I^{1, 5}	91.12(n)¹ 97.19(a)¹	21812¹ NM_009370.2¹ NP_033396.1¹ AK007125⁵ AK153796⁵ (see all 14)

About this table Species with no ortholog for TGFBR1

ENSEMBL Gene Tree for TGFBR1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for TGFBR1 gene

ACVR1C² ACVR1B²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/345 NCBI SNPs in TGFBR1 are shown (see all 345 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 152)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs420549^1,2	A,C,F,H,O	100954694(+)	`AAAGAG/CATCGT`	2	--	ut3¹ ese³		8	MN EA EU WA NA	1530
	rs1590^1,2	A,C,F,H,O	100955986(-)	`CCCCAA/CTGGAA`	2	--	ut3¹ ese³		16	EA NA EU WA	1145
	rs334348^1,2	A,C,F,H,O	100952292(+)	`AAATTA/GTTAGC`	2	--	ut3¹ ese³		12	NA EU NS EA WA	893
	rs868^1,2	A,C,F,H,O	100951477(+)	`GGTCAA/GTTGTT`	2	--	ut3¹		23	MN CSAM EA NA EU NS WA	1941
	rs334349^1,2	A,C,F,H	100954208(+)	`AGACCG/ATTGCC`	2	--	ut3¹ ese³		12	MN EU EA WA NA	1160
	rs10819636^1,2	C,F,H	100906933(+)	`GAGCGG/TTGCTG`	1	--	ng5¹		5	NS EU EA WA	568
	rs3739798^1,2	C,F,H	100954633(-)	`TCATGC/TATGTA`	2	--	ut3¹ ese³		5	EA EU WA	1890
	rs7850895^1,2	C,F,H	100955897(+)	`TATTAT/CAGCGT`	2	--	ut3¹ ese³		12	NS NA EU EA WA	670
	rs11568812^1,2	C,F,H	100952923(+)	`TCATGG/ATCTTC`	2	--	ut3¹ ese³		11	NS EU EA WA	1068
	rs11568742^1,2	F,H	100906112(+)	`TTCTAC/TGTAAC`	1	--	ng5¹		5	NS EU EA WA	592

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HapMap Linkage Disequilibrium images for TGFBR1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 190181 disorders: 609129 608967

UniProtKB/Swiss-Prot: TGFR1_HUMAN, P36897

Defects in TGFBR1 are the cause of Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]; also

known as Furlong syndrome or Loeys-Dietz aortic aneurysm syndrome (LDAS). LDS1 is an aortic

aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial

tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other

findings include exotropy, micrognathia and retrognathia, structural brain abnormalities,

intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm

with dissection throughout the arterial tree

Defects in TGFBR1 are the cause of Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]. LDS2

is an aortic aneurysm syndrome with widespread systemic involvement. 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, diffuse arterial aneurysms and

dissections, and catastrophic complications of pregnancy, including rupture of the gravid uterus

and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is

characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that

can be present in some patients

Defects in TGFBR1 are the cause of aortic aneurysm familial thoracic type 5 (AAT5)

[MIM:608967]. Aneurysms and dissections of the aorta usually result from degenerative changes in

the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a

characteristic histologic appearance known as 'medial necrosis' in which there is degeneration and

fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic

ground substance

10/54 Novoseek disease relationships for TGFBR1 gene (see all 54 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
marfan syndrome	55.72	11	16799921 (2), 18377530 (1), 16596670 (1), 18721526 (1) (see all 7)
telangiectasia hereditary hemorrhagic	52.14	1	12384983 (1)
sclerosis systemic	41.41	4	15593186 (1), 16575856 (1), 16947635 (1)
renal fibrosis	38.54	1	17274978 (1)
tumors	34.76	20	7622234 (2), 10932976 (2), 8636304 (1), 8760600 (1) (see all 14)
telangiectasia	34.10	1	15385967 (1)
breast cancer	32.83	12	16428477 (2), 10416594 (2), 14760070 (1), 11221885 (1) (see all 10)
cancer	24.97	12	8760600 (2), 10416594 (2), 11746979 (1), 16038265 (1) (see all 9)
liver fibrosis	24.27	3	16628263 (2), 17274978 (1)
keloid	24.08	1	11496185 (1)

About this table

GeneTests: TGFBR1

Loeys-Dietz Syndrome

Human Gene Mutation Database: TGFBR1
Genetic Association Database: TGFBR1
Human Genome Epidemiology Navigator: TGFBR1 (39 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/478 PubMed articles for TGFBR1 gene (see all 478 ):

TGFBR1(*)6A is not associated with prostate cancer in men of European ancestry. (PubMed id 15505640)^{3, 4, 6} Suarez B.K.... Catalona W.J. (2005)
No major association between TGFBR1*6A and prostate cancer. (PubMed id 15385056)^{3, 4, 6} Kaklamani V.G.... Pasche B. (2004)
TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies. (PubMed id 12947057)^{3, 4, 6} Kaklamani V.G.... Pasche B. (2003)
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (PubMed id 16791849)^{1, 3, 4} Matyas G.... Steinmann B. (2006)
An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder. (PubMed id 15382067)^{1, 3, 6} Chen T....Carter J.H. (2004)
Identification of 1,5-naphthyridine derivatives as a novel series of potent and selective TGF-beta type I receptor inhibitors. (PubMed id 15317461)^{1, 3, 4} Gellibert F....Hartley D. (2004)
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. (PubMed id 16596670)^{1, 3, 4} Ades L.C.... Bennetts B. (2006)
Cloning and genomic organization of the human transforming growth factor-beta type I receptor gene. (PubMed id 9417915)^{1, 3, 4} Vellucci V.F. and Reiss M. (1997)
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. (PubMed id 12202987)^{1, 3, 6} Watanabe Y.... Yoshiura K. (2002)
Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer. (PubMed id 11746979)^{1, 3, 6} Samowitz W.S....Slattery M.L. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7046	HGNC: 11772	AceView: TGFBR1	Ensembl:ENSG00000106799	euGenes: HUgn7046
ECgene: TGFBR1	H-InvDB: TGFBR1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for TGFBR1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=TGFBR1
NIEHS-SNPs	http://egp.gs.washington.edu/data/tgfbr1/

Licensable Technologies for TGFBR1
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for TGFBR1:

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
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Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for TGFBR1-related products

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Antibodies & Assays for TGFBR1 (TGF-beta receptor I)

	Recombinant Proteins (TGF beta Receptor I)
	Antibodies (TGF beta Receptor I)

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	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Tocris compounds for TGFBR1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for TGFBR1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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TGFBR1 Gene at Home site.
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TGFBR1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for TGFBR1

Summaries
for TGFBR1

Genomic Location
for TGFBR1

Proteins
for TGFBR1

Protein Domains/
Families
for TGFBR1

Gene Function
for TGFBR1

Pathways & Interactions
for TGFBR1

Drugs & Compounds
for TGFBR1

Transcripts
for TGFBR1

Expression
for TGFBR1

Orthologs
for TGFBR1

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for TGFBR1

SNPs/Variants
for TGFBR1

Disorders & Mutations
for TGFBR1

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for TGFBR1

Publications
for TGFBR1

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Genome Databases showing TGFBR1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TGFBR1 (Gene Symbol)
AAT5
ACVRLK4
ALK-5
ALK5
EC 2.7.11.30
LDS1A
LDS2A
OTTHUMP00000021783
SKR4
TGFR-1
TbetaR-I
Activin receptor-like kinase 5
Serine/threonine-protein kinase receptor R4
TGF-beta receptor type I
TGF-beta type I receptor
Transforming growth factor-beta receptor type I
activin A receptor type II-like kinase, 53kD
activin A receptor type II-like kinase, 53kDa
transforming growth factor beta receptor I
transforming growth factor, beta receptor 1
transforming growth factor, beta receptor I
transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)

TGFBR1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor TGFBR1

Summariesfor TGFBR1

Genomic Locationfor TGFBR1

Proteinsfor TGFBR1

Protein Domains/Familiesfor TGFBR1

Gene Functionfor TGFBR1

Pathways & Interactionsfor TGFBR1

Drugs & Compoundsfor TGFBR1

Transcriptsfor TGFBR1

Expression for TGFBR1

Orthologsfor TGFBR1

Paralogsfor TGFBR1

SNPs/Variantsfor TGFBR1

Disorders & Mutationsfor TGFBR1

Medical Newsfor TGFBR1

Publicationsfor TGFBR1

Search for TGFBR1

Genome Databases showing TGFBR1

Other Databases showing TGFBR1

Specialized Databases showing TGFBR1

Licensable Technologiesfor TGFBR1

Servicesfor TGFBR1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TGFBR1

Summaries
for TGFBR1

Genomic Location
for TGFBR1

Proteins
for TGFBR1

Protein Domains/
Families
for TGFBR1

Gene Function
for TGFBR1

Pathways & Interactions
for TGFBR1

Drugs & Compounds
for TGFBR1

Transcripts
for TGFBR1

Expression
for TGFBR1

Orthologs
for TGFBR1

Paralogs
for TGFBR1

SNPs/Variants
for TGFBR1

Disorders & Mutations
for TGFBR1

Medical News
for TGFBR1

Publications
for TGFBR1

Licensable Technologies
for TGFBR1

Services
for TGFBR1