Tgfbr1 - transforming growth factor, beta receptor I Gene

Mus musculus

Also known as ALK5; ESK2; Alk-5; TGFR-1; TbetaRI; TbetaR-I

Gene ID: 21812 | Gene type: protein coding

About Tgfbr1

Chromosome 4: 47,353,222-47,414,931 forward strand.GRCm39:CM000997.3

This gene has 5 transcripts (splice variants), 236 orthologues, 11 paralogues and is associated with 33 phenotypes. Broad expression in CNS E11.5 (RPKM 19.6), placenta adult (RPKM 12.8) and 25 other tissues.

Summary

This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and Apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Tgfbr1 Products(3)

mRNA	Protein	Name
NM_001312868.1	NP_001299797.1	TGF-beta receptor type-1 isoform 2 precursor
NM_009370.3	NP_033396.1	TGF-beta receptor type-1 isoform 1 precursor
NM_001312869.1	NP_001299798.1	TGF-beta receptor type-1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SMAD binding	IDA IDA: Inferred from direct assay	12773577	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	12773577	MGI
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	25065622	MGI
enables transforming growth factor beta binding	IPI IPI: Inferred from physical interaction	17878231	MGI
enables transforming growth factor beta receptor activity	IDA IDA: Inferred from direct assay	15820682	MGI
enables transforming growth factor beta receptor activity	IGI IGI: Inferred from genetic interaction	17878231	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within angiogenesis	IMP IMP: Inferred from mutant phenotype	11285230	MGI
involved in angiogenesis involved in coronary vascular morphogenesis	IMP IMP: Inferred from mutant phenotype	18718461	MGI
acts upstream of or within anterior/posterior pattern specification	IGI IGI: Inferred from genetic interaction	16845371	MGI
acts upstream of apoptotic process	IMP IMP: Inferred from mutant phenotype	16806156	MGI
acts upstream of or within artery morphogenesis	IMP IMP: Inferred from mutant phenotype	17078885	MGI
acts upstream of or within blastocyst development	IDA IDA: Inferred from direct assay	9921650	MGI
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	19494318	MGI
acts upstream of or within collagen fibril organization	IMP IMP: Inferred from mutant phenotype	15993878	MGI
involved in coronary artery morphogenesis	IMP IMP: Inferred from mutant phenotype	18718461	MGI
acts upstream of or within embryo development	IMP IMP: Inferred from mutant phenotype	14729481	MGI
acts upstream of or within embryonic cranial skeleton morphogenesis	IMP IMP: Inferred from mutant phenotype	16806156	MGI
acts upstream of or within endothelial cell migration	IMP IMP: Inferred from mutant phenotype	11285230	MGI
acts upstream of endothelial cell proliferation	IGI IGI: Inferred from genetic interaction	21832243	MGI
involved in epicardium morphogenesis	IMP IMP: Inferred from mutant phenotype	18718461	MGI
acts upstream of filopodium assembly	IMP IMP: Inferred from mutant phenotype	16806156	MGI
acts upstream of or within germ cell migration	IMP IMP: Inferred from mutant phenotype	15993878	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	17078885	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	11285230	MGI
acts upstream of or within kidney development	IGI IGI: Inferred from genetic interaction	16845371	MGI
acts upstream of or within lens development in camera-type eye	IMP IMP: Inferred from mutant phenotype	11641223	MGI
acts upstream of or within male gonad development	IMP IMP: Inferred from mutant phenotype	23342175	MGI
acts upstream of or within negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	16806156	MGI
involved in negative regulation of chondrocyte differentiation	IMP IMP: Inferred from mutant phenotype	19494318	MGI
acts upstream of or within negative regulation of endothelial cell proliferation	IGI IGI: Inferred from genetic interaction	21832243	MGI
acts upstream of or within neuron fate commitment	IMP IMP: Inferred from mutant phenotype	15744664	MGI
acts upstream of or within parathyroid gland development	IMP IMP: Inferred from mutant phenotype	17078885	MGI
acts upstream of or within pharyngeal system development	IMP IMP: Inferred from mutant phenotype	17078885	MGI
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	24835278	MGI
involved in positive regulation of epithelial to mesenchymal transition	IGI IGI: Inferred from genetic interaction	18718461	MGI
involved in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IMP IMP: Inferred from mutant phenotype	18718461	MGI
acts upstream of or within positive regulation of filopodium assembly	IMP IMP: Inferred from mutant phenotype	16806156	MGI
involved in positive regulation of stress fiber assembly	IGI IGI: Inferred from genetic interaction	18718461	MGI
involved in positive regulation of tight junction disassembly	IGI IGI: Inferred from genetic interaction	18718461	MGI
acts upstream of or within post-embryonic development	IMP IMP: Inferred from mutant phenotype	16806156	MGI
NOT involved in proepicardium development	IMP IMP: Inferred from mutant phenotype	18718461	MGI
involved in regulation of cardiac muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	18718461	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	16806156	MGI
acts upstream of or within regulation of protein binding	IMP IMP: Inferred from mutant phenotype	16601693	MGI
involved in response to cholesterol	IDA IDA: Inferred from direct assay	17878231	MGI
acts upstream of or within roof of mouth development	IGI IGI: Inferred from genetic interaction	16845371	MGI
acts upstream of or within roof of mouth development	IMP IMP: Inferred from mutant phenotype	16806156	MGI
acts upstream of or within skeletal system development	IGI IGI: Inferred from genetic interaction	16845371	MGI
acts upstream of or within skeletal system morphogenesis	IGI IGI: Inferred from genetic interaction	16845371	MGI
acts upstream of or within thymus development	IMP IMP: Inferred from mutant phenotype	17078885	MGI
acts upstream of or within transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	14580334	MGI
involved in transforming growth factor beta receptor signaling pathway	IGI IGI: Inferred from genetic interaction	18718461	MGI
acts upstream of or within transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	11285230	MGI
involved in ventricular compact myocardium morphogenesis	IMP IMP: Inferred from mutant phenotype	18718461	MGI
involved in ventricular septum morphogenesis	IMP IMP: Inferred from mutant phenotype	18718461	MGI
involved in ventricular trabecula myocardium morphogenesis	IMP IMP: Inferred from mutant phenotype	18718461	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in endosome	IDA IDA: Inferred from direct assay	21266196	MGI

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

STKc_TGFbR1_ACVR1b_ACVR1c

0
100
200
300
400
503 a.a.

Protein Preferred Names

Protein Names

TGF-beta receptor type-1

TGF-beta receptor type I

transforming growth factor-beta receptor type I

Recombinant Tgfbr1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72454	TGFBR1/ALK-5 Protein, Mouse (HEK293, Fc)	Q64729 (L30-E125)	≥95%

Related Agents

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-123900	AZ12799734	Inhibitor	98.07%	Unkown
HY-122856	AZ12601011	Inhibitor	99.88%	Unkown
HY-129171	TGFBR1-IN-1	Inhibitor	/	Unkown
HY-RS14444	TGFBR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14445	Tgfbr1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14446	TGFBR1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Tgfbr1	NCBI	NCBI:7046

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