TGFBR1 - transforming growth factor beta receptor 1 Gene

Also Known as AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7046

About TGFBR1

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:99,104,038-99,154,192 (from NCBI)

This gene has 13 transcripts (splice variants), 236 orthologues, 11 paralogues and is associated with 7 phenotypes. Ubiquitous expression in placenta (RPKM 13.6), gall bladder (RPKM 8.0) and 24 other tissues.

Summary

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, Aug 2008]

TGFBR1 Products (30)

mRNA	Protein	Name
NM_001407437.1	NP_001394366.1	TGF-beta receptor type-1 isoform 11 precursor
NM_001407426.1	NP_001394355.1	TGF-beta receptor type-1 isoform 7
NM_001407424.1	NP_001394353.1	TGF-beta receptor type-1 isoform 7
NM_001407438.1	NP_001394367.1	TGF-beta receptor type-1 isoform 10 precursor
NM_001407434.1	NP_001394363.1	TGF-beta receptor type-1 isoform 7
NM_001407417.1	NP_001394346.1	TGF-beta receptor type-1 isoform 5 precursor
NM_001407418.1	NP_001394347.1	TGF-beta receptor type-1 isoform 6
XM_011518949.3	XP_011517251.1	TGF-beta receptor type-1 isoform X2
NM_001407430.1	NP_001394359.1	TGF-beta receptor type-1 isoform 7
NM_001407423.1	NP_001394352.1	TGF-beta receptor type-1 isoform 7
NM_001407429.1	NP_001394358.1	TGF-beta receptor type-1 isoform 7
NM_001407432.1	NP_001394361.1	TGF-beta receptor type-1 isoform 7
NM_001407422.1	NP_001394351.1	TGF-beta receptor type-1 isoform 6
NM_001407436.1	NP_001394365.1	TGF-beta receptor type-1 isoform 9 precursor
NM_001407420.1	NP_001394349.1	TGF-beta receptor type-1 isoform 6
NM_001407427.1	NP_001394356.1	TGF-beta receptor type-1 isoform 7
NM_001306210.2	NP_001293139.1	TGF-beta receptor type-1 isoform 3 precursor
NR_176360.1
NM_001407435.1	NP_001394364.1	TGF-beta receptor type-1 isoform 8 precursor
NR_176362.1
NR_176361.1
NM_001130916.3	NP_001124388.1	TGF-beta receptor type-1 isoform 2 precursor
NM_001407425.1	NP_001394354.1	TGF-beta receptor type-1 isoform 7
NM_001407416.1	NP_001394345.1	TGF-beta receptor type-1 isoform 4 precursor
NM_004612.4	NP_004603.1	TGF-beta receptor type-1 isoform 1 precursor
NM_001407428.1	NP_001394357.1	TGF-beta receptor type-1 isoform 7
NM_001407433.1	NP_001394362.1	TGF-beta receptor type-1 isoform 7
NM_001407419.1	NP_001394348.1	TGF-beta receptor type-1 isoform 6
XM_011518948.3	XP_011517250.1	TGF-beta receptor type-1 isoform X1
NR_176363.1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12065756	GOA
enables I-SMAD binding	IPI IPI: Inferred from physical interaction	11278251	GOA
enables SMAD binding	IDA IDA: Inferred from direct assay	12065756	GOA
enables SMAD binding	IPI IPI: Inferred from physical interaction	8980228	GOA
contributes to growth factor binding	IPI IPI: Inferred from physical interaction	14517293	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8622651	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	19736306	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	12065756	GOA
contributes to transforming growth factor beta binding	IDA IDA: Inferred from direct assay	11157754	GOA
enables transforming growth factor beta binding	IDA IDA: Inferred from direct assay	14633705	GOA
contributes to transforming growth factor beta binding	IMP IMP: Inferred from mutant phenotype	1333888	GOA
enables transforming growth factor beta binding	IPI IPI: Inferred from physical interaction	1326540	GOA
enables transforming growth factor beta receptor activity	IDA IDA: Inferred from direct assay	12015308	GOA
contributes to transforming growth factor beta receptor activity	IMP IMP: Inferred from mutant phenotype	1333888	GOA
enables transforming growth factor beta receptor activity	IMP IMP: Inferred from mutant phenotype	18625725	GOA
enables transforming growth factor beta receptor activity, type I	IDA IDA: Inferred from direct assay	8752209	GOA
enables transmembrane receptor protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	12015308	GOA
enables type II transforming growth factor beta receptor binding	IDA IDA: Inferred from direct assay	11157754	GOA
enables type II transforming growth factor beta receptor binding	IPI IPI: Inferred from physical interaction	1333888	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	12151385	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell motility	IMP IMP: Inferred from mutant phenotype	18625725	GOA
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	19494318	GOA
involved in epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	15761148	GOA
involved in myofibroblast differentiation	IMP IMP: Inferred from mutant phenotype	28251559	GOA
acts upstream of negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	23424236	GOA
involved in negative regulation of extrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	18625725	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	15761148	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9311995	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	9311995	GOA
involved in positive regulation of SMAD protein signal transduction	IGI IGI: Inferred from genetic interaction	22714950	GOA
involved in positive regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	27693460	GOA
involved in positive regulation of apoptotic signaling pathway	IDA IDA: Inferred from direct assay	18758450	GOA
involved in positive regulation of cell growth	IDA IDA: Inferred from direct assay	18625725	GOA
involved in positive regulation of cell migration	IDA IDA: Inferred from direct assay	19736306	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	14633705	GOA
acts upstream of positive regulation of extracellular matrix assembly	IMP IMP: Inferred from mutant phenotype	28251559	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	27162619	GOA
involved in positive regulation of mesenchymal stem cell proliferation	IGI IGI: Inferred from genetic interaction	22714950	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	18625725	GOA
involved in positive regulation of vasculature development	IMP IMP: Inferred from mutant phenotype	27693460	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	14517293	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	15702480	GOA
involved in regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	18758450	GOA
involved in response to cholesterol	IDA IDA: Inferred from direct assay	17878231	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	14633705	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	1333888	GOA
involved in transforming growth factor beta receptor signaling pathway	IGI IGI: Inferred from genetic interaction	22714950	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	1333888	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in bicellular tight junction	IDA IDA: Inferred from direct assay	15761148	GOA
located in cell surface	IDA IDA: Inferred from direct assay	25893292	GOA
located in endosome	IDA IDA: Inferred from direct assay	26583432	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	25893292	GOA
located in nucleus	IDA IDA: Inferred from direct assay	26583432	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17878231	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	8774881	GOA
part of transforming growth factor beta ligand-receptor complex	IPI IPI: Inferred from physical interaction	18243111	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TGFBR1 Protein Structure

Activin_recp

TGF_beta_GS

Pkinase

0
100
200
300
400
503 a.a.

Protein Preferred Names	Protein Names
TGF-beta receptor type-1	activin A receptor type II-like kinase, 53kDa activin A receptor type II-like protein kinase of 53kD activin receptor-like kinase 5 mutant transforming growth factor beta receptor I serine/threonine-protein kinase receptor R4 transforming growth factor beta receptor I transforming growth factor-beta receptor type I

TGFBR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TGFBR1	P36897	FKBP1A	Homo sapiens	P62942	X-Ray Diffraction	10025408
Intra	TGFBR1	P36897	FKBP1A	Homo sapiens	P62942	Ub Reconstruction	24658140
Intra	TGFBR1	P36897	YWHAZ	Homo sapiens	P63104	IF	19732720
Intra	TGFBR1	P36897	YWHAZ	Homo sapiens	P63104	Pull Down	19732720
Cross	TGFBR1	P36897	Q99IB8-PRO_0000045599	Hepatitis C virus	Q99IB8-PRO_0000045599	Pull Down	24263861
Cross	TGFBR1	P36897	Q99IB8-PRO_0000045599	Hepatitis C virus	Q99IB8-PRO_0000045599	PLA	24263861
Cross	TGFBR1	P36897	Q99IB8-PRO_0000045599	Hepatitis C virus	Q99IB8-PRO_0000045599	Anti Tag CoIP	24263861

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TGFBR1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72453	TGFBR1/ALK-5 Protein, Human (HEK293, Fc)	P36897-1 (L34-E125)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P74522	TGFBR1/ALK-5 Protein, Human (Active, sf9, His-GST)	P36897-1 (T200-M503)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P74523	TGFBR1/ALK-5 Protein, Human (HEK293, His-Fc)	P36897-1 (L34-E125)	≥ 85%, as determined by reducing SDS-PAGE.
HY-P78525	TGFBR1/ALK-5 Protein, Human (HEK293, mFc-Avi)	P36897-1 (L34-E125)	≥ 95%, as determined by Bis-Tris PAGE.

TGFBR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85977	TGF β Receptor I Antibody (YA5669)	IHC-P, ICC/IF, ELISA	Human, Mouse, Rat, Bovin

Related Diseases

Diseases	Alias
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Gastric Cancer	Stomach Cancer Stomach Carcinoma Gastric Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Camurati-Engelmann Disease	Progressive Diaphyseal Dysplasia Ced Engelmann Disease Diaphyseal Dysplasia 1, Progressive Pdd Diaphyseal Dysplasia Dpd1 Camurati-Engelmann Syndrome CAEND Engelman'S Disease Diaphyseal Hyperostosis Diaphyseal Osteosclerosis
Pulsating Exophthalmos
Multiple Self-Healing Squamous Epithelioma	MSSE Ess1 Ferguson-Smith Type Epithelioma Ferguson-Smith Disease Self-Healing Squamous Epithelioma Type 1 Multiple Self-Healing Squamous Epithelioma, Susceptibility To Ferguson-Smith-Type Epithelioma Ess1, Formerly Multiple Self Healing Squamous Epithelioma Familial Primary Self-Healing Squamous Epithelioma Of The Skin, Ferguson-Smith Type Multiple Keratoacanthoma, Ferguson-Smith Type Epithelioma, Squamous, Multiple Self Healing
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Fibrodysplasia Ossificans Progressiva	Myositis Ossificans Progressiva Progressive Myositis Ossificans FOP Progressive Ossifying Myositis Myositis Ossificans Stone Man Syndrome Man Of Stone Myositis Ossificans Progressive Diffuse Progressive Ossifying Polymyositis Fibrodysplasia Ossificans Congenita Myositis Ossificans Progressiva, Site Unspecified Münchmeyer Disease Fop - [Fibrodysplasia Ossificans Progressiva] Progressive Myositis Ossificans Calcification
Microphthalmia, Syndromic 6	MCOPS6 Microphthalmia And Pituitary Anomalies Microphthalmia With Brain And Digit Anomalies Microphthalmia With Brain And Digit Developmental Anomalies Syndromic Microphthalmia Type 6 Syndromic Microphthalmia 6 Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia Bakrania-Ragge Syndrome Orofacial Cleft 11 Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia Microphthalmia Syndromic 6 Microphthalmia, Syndromic, 6 Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia Microphthalmia Syndromic, Type 6
Collagen Disease	Collagen Diseases Collagen Disorder
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Loeys-Dietz Syndrome 5	Rienhoff Syndrome LDS5 Rnhf Reinhoff Syndrome Loeys-Dietz Syndrome, Type 5
Loeys-Dietz Syndrome 1	Furlong Syndrome Loeys-Dietz Aortic Aneurysm Syndrome LDS1 Aat5 Loeys-Dietz Syndrome Type 1 Aortic Aneurysm, Familial Thoracic 5 Familial Throacic Aortic Aneurysm 5 Loeys-Dietz Syndrome Aortic Aneurysm Syndrome, Loeys-Dietz Type Familial Thoracic Aortic Aneurysm 5 Ldas Marfanoid Disorder-Craniosynostosis Syndrome Aneurysm, Aortic, Thoracic, Familial, Type 5 Loeys-Dietz Syndrome, Type 1 Loeys-Dietz Syndrome, Type 2a
Loeys-Dietz Syndrome 4	LDS4 Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations Loeys-Dietz Syndrome Type 4 Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations Loeys-Dietz Syndrome, Type 4
Breast Cancer	Breast Carcinoma Breast Cancer, Familial Malignant Neoplasm Of Breast Male Breast Cancer Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Mitral Valve Disease	Chronic Rheumatic Mitral Valve Rheumatic Mitral Insufficiency Disease Of Mitral Valve Mitral Rh Valve Dis. Rheumatic Disease Of Mitral Valve Rheumatic Mitral Valve Changes Rheumatic Mitral Valve Incompetence Rheumatic Mitral Valve Regurgitation Abnormality Of The Mitral Valve Diseases Of Mitral Valve Rheumatic Mitral Regurgitation
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Mitochondrial Dna Depletion Syndrome 12b
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Aortic Dissection
Orofacial Cleft	Cleft, Orofacial
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Adenocarcinoma	Adenocarcinomas Adenoacanthoma Of Unspecified Site Adenocarcinoid Of Unspecified Site Adenocarcinoid Tumour Of Unspecified Site Adenocarcinoma And Carcinoid Combined Of Unspecified Site Adenocarcinoma Nos
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Cryptogenic Fibrosing Alveolitis Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Cancer Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Loeys-Dietz Syndrome 3	LDS3 Aneurysms-Osteoarthritis Syndrome Loeys-Dietz Syndrome With Osteoarthritis Aneurysm-Osteoarthritis Syndrome Lds1c Loeys-Dietz Syndrome, Type 3 Loeys-Dietz Syndrome, Type 1c, Formerly Lds1c, Formerly Loeys-Dietz Syndrome Type 1c Loeys-Dietz Syndrome Type 3 Aneurysm - Osteoarthritis Syndrome Loeys-Dietz Syndrome, Type 1c Aos Loeys-Dietz Syndrome 1c
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Hepatitis	Chronic Hepatitis Chronic Persistent Hepatitis Acute Hepatitis Hepatitis, Chronic Acute And Subacute Liver Necrosis Acute/Subac. Necrosis Of Liver Animal Hepatitis Hepatitis Chronic Hepatitis A Hepatitis, Animal Hepatitis Due To Toxoplasmosis Hepatitis In Toxoplasmosis Toxoplasmal Hepatitis Chronic Hepatitis, Unspecified Chronic Active Hepatitis Nec Other Specified Chronic Hepatitis Chronic Persistent Hepatitis Nec Chronic Lobular Hepatitis Nec
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Telangiectasis	Telangiectasia
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Contractural Arachnodactyly, Congenital	Congenital Contractural Arachnodactyly Beals Syndrome CCA Beals-Hecht Syndrome Distal Arthrogryposis Type 9 Arthrogryposis, Distal, Type 9 Da9 Arachnodactyly, Contractural Beals Type Contractures, Multiple With Arachnodactyly Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis Arthrogyroposis, Distal, Type 9 Distal Arthrogyropsis Type 9 Cca Syndrome Arachnodactyly
Hepatitis C	Chronic Hepatitis C Hepatitis C Infection Hepatitis Nona Nonb Nanbh Viral Hepatitis C Hepatitis C Chronic Hepatitis C, Chronic Chronic Type C Viral Hepatitis Chronic Hcv - [Hepatitis C Virus] Infection Hepatitis C Nos Hepatitis C Infection Nos Hepatitis C-Related Cirrhosis Type C Viral Hepatitis Hep C Nos
Pancreatic Cancer	Pancreatic Carcinoma Familial Pancreatic Carcinoma Pancreatic Neoplasm Carcinoma Of Pancreas Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Cancer Of The Pancreas Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Loeys-Dietz Syndrome 2	LDS2 Aat3 Marfan Syndrome Type 2 Aortic Aneurysm, Familial Thoracic 3 Marfan Syndrome Type Ii Loeys-Dietz Syndrome Type 2 Mfs2 Marfan Syndrome, Type Ii, Formerly Familial Throacic Aortic Aneurysm 3 Familial Aortic Aneurysm Thoracic Type 3 Taad2 Thoracic Aortic Aneurysms And Dissection 2 Aneurysm, Aortic, Thoracic, Familial, Type 3 Loeys-Dietz Syndrome, Type 2
Tricuspid Valve Prolapse
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma Head And Neck Cancer Squamous Cell Carcinoma Of Lip Squamous Cell Carcinoma, Head And Neck, Somatic Carcinoma Of The Head And Neck Squamous Cell Carcinomas Of Head And Neck Scchn Squamous Cell Carcinoma Of The Hypopharynx Squamous Cell Carcinoma Of The Oropharynx Squamous Cell Carcinoma Of Salivary Glands Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses Squamous Cell Carcinoma Of The Oral Cavity Squamous Cell Carcinoma Of The Lip Carcinoma, Squamous Cell Of Head And Neck Lip Squamous Cell Carcinoma Cancer, Head/Neck Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
Classic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Classic Type Classical Ehlers-Danlos Syndrome Eds, Classic Type Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome Type 2 Classical Eds Ceds Ehlers-Danlos Syndrome, Type 2
Obstructive Nephropathy	Con Congenital Obstructive Nephropathy Nephropathy Obstructive
Arterial Tortuosity Syndrome	Arterial Tortuosity Ats ATORS Tortuosity, Arterial, Syndrome
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Aortic Aneurysm	Aortic Rupture Thoracoabdominal Aortic Aneurysm, Ruptured Ruptured Aortic Aneurysm Aortic Aneurysms Aortic Aneurysm Without Mention Of Rupture Nos Ruptured Abdominal Aortic Aneurysm Aortic Aneurysm, Ruptured Ruptured Thoracic Aortic Aneurysm
Renal Fibrosis
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Aortic Valve Insufficiency	Aortic Regurgitation Rheumatic Aortic Regurgitation Aortic Insufficiency Rheumatic Aortic Insufficiency Rheumatic Aortic Valve Insufficiency Aortic Incompetence Corrigan'S Disease Rheumatic Aortic Valve Regurgitation Aortic Valve Incompetency Ai - [Aortic Incompetence] Incompetent Aortic Valve Ar - [Aortic Regurgitation] Calcific Aortic Valve Regurgitation Myxomatous Aortic Valve Regurgitation Annular Incompetency Of Aortic Valve Austin Flint Murmur Flint Murmur Rheumatic Aortic Incompetence Rheumatic Ai - [Aortic Insufficiency]
Aortic Aneurysm, Familial Thoracic 4	AAT4 Faa4 Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus Familial Aortic Aneurysm 4 Non-Syndromic Thoracic Aortic Aneurysms And Dissection Taad Thoracic Aortic Aneurysms And Dissection Thoracic Aortic Aneurysms And Dissections Aneurysm, Aortic, Thoracic, Familial, Type 4
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Degeneration Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Aortic Disease	Aortic Diseases Aortic Disorder Disorder Of The Aorta
Hereditary Hemorrhagic Telangiectasia	Rendu-Osler-Weber Disease Hht Osler-Weber-Rendu Disease Telangiectasia, Hereditary Hemorrhagic Osler Hemorrhagic Telangiectasia Syndrome Orw Disease Osler Weber Rendu Syndrome Osler-Rendu-Weber Disease Osler-Weber-Rendu Syndrome Rendu-Osler Disease Telangiectasia Hereditary Hemorrhagic Telangiectasia Hemorrhagic, Hereditary Hht - [Hereditary Haemorrhagic Telangiectasia] Osler Haemorrhagic Telangiectasia Syndrome
Subclavian Artery Aneurysm	Aneurysm Of Subclavian Artery
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-136244	PF-06952229	Inhibitor	99.92%	Phase 1

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-164793	TGFBR1-IN-2		/	Unkown
HY-122856	AZ12601011	Inhibitor	99.78%	Unkown
HY-N7694	Isotoosendanin		99.51%	Unkown
HY-123900	AZ12799734	Inhibitor	98.67%	Unkown
HY-RS14444	TGFBR1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS14445	Tgfbr1 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS14446	TGFBR1 Rat Pre-designed siRNA Set A		/	Unkown
HY-174531	Human TGFBR1 mRNA		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TGFBR1	VGNC	VGNC:66135
Canis familiaris	TGFBR1	VGNC	VGNC:51764
Bos taurus	TGFBR1	VGNC	VGNC:35804
Macaca mulatta	TGFBR1	VGNC	VGNC:78337
Rattus norvegicus	TGFBR1	RGD	RGD:3852
Mus musculus	TGFBR1	MGD	MGI:98728
Others	TGFBR1	NCBI