• Gene id: 7046

Gene Summary

• Gene Symbol: TGFBR1   Gene   UCSC   Ensembl
• Aliases: AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I
• Gene name: transforming growth factor beta receptor 1
• Alternate 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, tran,
• Gene location: 9q22.33 (99104037: 99154191)     Exons: 11     NC_000009.12
• Gene summary(Entrez): 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. Mutation
• OMIM: 190181

Protein Summary

• Protein general information: P36897  
  • Name: TGF beta receptor type 1 (TGFR 1) (EC 2.7.11.30) (Activin A receptor type II like protein kinase of 53kD) (Activin receptor like kinase 5) (ALK 5) (ALK5) (Serine/threonine protein kinase receptor R4) (SKR4) (TGF beta type I receptor) (Transforming growth
  • Length: 503  
  • Mass: 55960
  • Tissue specificity: Found in all tissues examined, most abundant in placenta and least abundant in brain and heart. Expressed in a variety of cancer cell lines (PubMed
• Sequence:

  MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEI
  DLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHN
  RTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR
  GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVE
  GMIKLALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGT
  KRYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKL
  RPNIPNRWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM

• Structural information:
  • Protein Domains: (175..20-)
    (/note="GS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00585-)
    (205..49-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000472  IPR003605  IPR011009  IPR000719  IPR017441   IPR008271  IPR000333  
  • Prosite: PS51256 PS00107 PS50011 PS00108
  • PDB: 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
  • 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
  • DIP: 5935
  • STRING: ENSP00000364133
• Other Databases: GeneCards:  TGFBR1  Malacards:  TGFBR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019838	growth factor binding	IPI	contributes to
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0048179	activin receptor complex	IBA	cellular component
GO:0043235	receptor complex	IBA	cellular component
GO:0048185	activin binding	IBA	molecular function
GO:0046332	SMAD binding	IBA	molecular function
GO:0032924	activin receptor signaling pathway	IBA	biological process
GO:0016361	activin receptor activity, type I	IBA	molecular function
GO:0007507	heart development	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005025	transforming growth factor beta receptor activity, type I	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0031396	regulation of protein ubiquitination	IDA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0048762	mesenchymal cell differentiation	TAS	biological process
GO:0043062	extracellular structure organization	TAS	biological process
GO:0042060	wound healing	TAS	biological process
GO:0007050	cell cycle arrest	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0040008	regulation of growth	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060317	cardiac epithelial to mesenchymal transition	ISS	biological process
GO:0010717	regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0001938	positive regulation of endothelial cell proliferation	ISS	biological process
GO:0042118	endothelial cell activation	ISS	biological process
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0032924	activin receptor signaling pathway	ISS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001824	blastocyst development	IEA	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0009791	post-embryonic development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0050431	transforming growth factor beta binding	IEA	molecular function
GO:0051491	positive regulation of filopodium assembly	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:0060017	parathyroid gland development	IEA	biological process
GO:0060043	regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0070723	response to cholesterol	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:1905075	positive regulation of tight junction disassembly	IEA	biological process
GO:1905223	epicardium morphogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0003223	ventricular compact myocardium morphogenesis	IEA	biological process
GO:0005024	transforming growth factor beta-activated receptor activity	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008354	germ cell migration	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043393	regulation of protein binding	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060978	angiogenesis involved in coronary vascular morphogenesis	IEA	biological process
GO:0060982	coronary artery morphogenesis	IEA	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0050431	transforming growth factor beta binding	IDA	contributes to
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IC	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005025	transforming growth factor beta receptor activity, type I	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IMP	contributes to
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IMP	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IMP	contributes to
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0070411	I-SMAD binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0070723	response to cholesterol	IDA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0001501	skeletal system development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	ISS	biological process
GO:0048705	skeletal system morphogenesis	ISS	biological process
GO:0048870	cell motility	IMP	biological process
GO:0051272	positive regulation of cellular component movement	IMP	biological process
GO:0060017	parathyroid gland development	ISS	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IC	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IDA	biological process
GO:0003342	proepicardium development	ISS	NOT|biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0060043	regulation of cardiac muscle cell proliferation	ISS	biological process
GO:1905075	positive regulation of tight junction disassembly	ISS	biological process
GO:0051496	positive regulation of stress fiber assembly	ISS	biological process
GO:1905223	epicardium morphogenesis	ISS	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0007507	heart development	ISS	biological process
GO:0008354	germ cell migration	ISS	biological process
GO:0030199	collagen fibril organization	ISS	biological process
GO:0032331	negative regulation of chondrocyte differentiation	ISS	biological process
GO:0048663	neuron fate commitment	ISS	biological process
GO:0048844	artery morphogenesis	ISS	biological process
GO:0060021	roof of mouth development	ISS	biological process
GO:0060037	pharyngeal system development	ISS	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0003223	ventricular compact myocardium morphogenesis	ISS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0060978	angiogenesis involved in coronary vascular morphogenesis	ISS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0060982	coronary artery morphogenesis	ISS	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:2001235	positive regulation of apoptotic signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa04144	Endocytosis
hsa04060	Cytokine-cytokine receptor interaction
hsa05166	Human T-cell leukemia virus 1 infection
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04371	Apelin signaling pathway
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa04926	Relaxin signaling pathway
hsa04068	FoxO signaling pathway
hsa04659	Th17 cell differentiation
hsa04350	TGF-beta signaling pathway
hsa05142	Chagas disease
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05212	Pancreatic cancer
hsa04520	Adherens junction

Diseases

Associated diseases	References
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Gastric cancer	KEGG:H00018
Loeys-Dietz syndrome	KEGG:H00800
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Gastric cancer	KEGG:H00018
Loeys-Dietz syndrome	KEGG:H00800
urinary bladder cancer	PMID:9363992
Lynch syndrome	PMID:17613544
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray