TGFBR1 transforming growth factor, beta receptor 1 [Homo sapiens (human)]

Summary
mRNA and Protein
Pathway
Homologues
Gene Ontology
Links to Other Databases

Gene Symbol	TGFBR1
Entrez Gene ID	7046
Full Name	transforming growth factor, beta receptor 1
Synonyms	AAT5, ACVRLK4, ALK-5, ALK5, LDS1A, LDS2A, SKR4, TGFR-1
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:9 Map Location:9q22
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].
Disorder	MIM: 190181 Loeys-Dietz syndrome, type 1A, 609192 (3); Loeys-Dietz syndrome,

mRNA	NM_001130916, 195963411
Protein	NP_001124388, 195963412
Product	TGF-beta receptor type-1 isoform 2 precursor
RefSeq Status	REVIEWED
mRNA	NM_004612, 66346739
Protein	NP_004603, 4759226
Product	TGF-beta receptor type-1 isoform 1 precursor
RefSeq Status	REVIEWED

KEGG

hsa04380	Osteoclast differentiation
hsa05210	Colorectal cancer
hsa04144	Endocytosis
hsa04010	MAPK signaling pathway
hsa05220	Chronic myeloid leukemia
hsa04350	TGF-beta signaling pathway
hsa04520	Adherens junction
hsa05212	Pancreatic cancer
hsa04060	Cytokine-cytokine receptor interaction
hsa05142	Chagas disease (American trypanosomiasis)
hsa05200	Pathways in cancer

WikiPathways

WP400	p38 MAPK Signaling Pathway
WP560	TGF Beta Signaling Pathway
WP366	TGF-beta Receptor Signaling Pathway
WP382	MAPK signaling pathway

Pathway Interaction Database

glypican_1pathway	Glypican 1 network
tgfbrpathway	TGF-beta receptor signaling
alk1pathway	ALK1 signaling events

Reactome

REACT_6844

Signaling by TGF beta

Homo sapiens (human)	TGFBR1	NP_004603.1
Pan troglodytes (chimpanzee)	TGFBR1	XP_001159299.1
Canis lupus familiaris (dog)	TGFBR1	XP_538750.2
Bos taurus (cattle)	TGFBR1	NP_777046.1
Mus musculus (house mouse)	Tgfbr1	NP_033396.1
Rattus norvegicus (Norway rat)	Tgfbr1	NP_036907.2
Gallus gallus (chicken)	TGFBR1	NP_989577.1
Danio rerio (zebrafish)	tgfbr1b	NP_001108531.1
Drosophila melanogaster (fruit fly)	babo	NP_476999.1

Process

ID	Name	Evidence
GO:0000186	activation of MAPKK activity	IDA
GO:0001501	skeletal system development	ISS
GO:0001666	response to hypoxia	IEA
GO:0001701	in utero embryonic development	ISS
GO:0001822	kidney development	ISS
GO:0001824	blastocyst development	IEA
GO:0006355	regulation of transcription, DNA-dependent	IDA
GO:0006355	regulation of transcription, DNA-dependent	IMP
GO:0006468	protein phosphorylation	IDA
GO:0006917	induction of apoptosis	IEA
GO:0007165	signal transduction	IDA
GO:0007179	transforming growth factor beta receptor signaling pathway	IC
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS
GO:0007507	heart development	ISS
GO:0007566	embryo implantation	IEA
GO:0007568	aging	IEA
GO:0008284	positive regulation of cell proliferation	IMP
GO:0008354	germ cell migration	ISS
GO:0009636	response to toxin	IEA
GO:0009790	embryo development	IEA
GO:0009791	post-embryonic development	IEA
GO:0009952	anterior/posterior pattern formation	ISS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0014070	response to organic cyclic compound	IEA
GO:0018105	peptidyl-serine phosphorylation	IDA
GO:0018107	peptidyl-threonine phosphorylation	IDA
GO:0030199	collagen fibril organization	ISS
GO:0030307	positive regulation of cell growth	IDA
GO:0030324	lung development	IEA
GO:0031100	organ regeneration	IEA
GO:0034695	response to prostaglandin E stimulus	IEA
GO:0043066	negative regulation of apoptosis	IEA
GO:0043393	regulation of protein binding	IEA
GO:0043627	response to estrogen stimulus	IEA
GO:0045602	negative regulation of endothelial cell differentiation	IEA
GO:0045885	positive regulation of survival gene product expression	IMP
GO:0045893	positive regulation of transcription, DNA-dependent	IDA
GO:0046777	protein autophosphorylation	IEA
GO:0048538	thymus development	ISS
GO:0048565	digestive tract development	IEA
GO:0048663	neuron fate commitment	ISS
GO:0048701	embryonic cranial skeleton morphogenesis	ISS
GO:0048705	skeletal system morphogenesis	ISS
GO:0048844	artery morphogenesis	ISS
GO:0048870	cell motility	IMP
GO:0051272	positive regulation of cellular component movement	IMP
GO:0051491	positive regulation of filopodium assembly	IEA
GO:0051602	response to electrical stimulus	IEA
GO:0051897	positive regulation of protein kinase B signaling cascade	IDA
GO:0060017	parathyroid gland development	ISS
GO:0060021	palate development	ISS
GO:0060037	pharyngeal system development	ISS
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA
GO:0060391	positive regulation of SMAD protein import into nucleus	IDA
GO:0070723	response to cholesterol	IDA

Component

ID	Name	Evidence
GO:0005886	plasma membrane	EXP
GO:0005886	plasma membrane	TAS
GO:0016021	integral to membrane	IEA
GO:0016323	basolateral plasma membrane	IEA
GO:0016324	apical plasma membrane	IEA
GO:0043235	receptor complex	IDA
GO:0044459	plasma membrane part	IDA
GO:0070022	transforming growth factor beta receptor complex	IC

Function

ID	Name	Evidence
GO:0000166	nucleotide binding	IEA
GO:0004674	protein serine/threonine kinase activity	IDA
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IDA
GO:0004872	receptor activity	IEA
GO:0005024	transforming growth factor beta receptor activity	IC
GO:0005024	transforming growth factor beta receptor activity	IDA
GO:0005024	transforming growth factor beta receptor activity	IMP
GO:0005024	transforming growth factor beta receptor activity	IMP
GO:0005025	transforming growth factor beta receptor activity, type I	IDA
GO:0005114	type II transforming growth factor beta receptor binding	IDA
GO:0005114	type II transforming growth factor beta receptor binding	IPI
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA
GO:0019838	growth factor binding	IPI
GO:0031625	ubiquitin protein ligase binding	IEA
GO:0032403	protein complex binding	IEA
GO:0046332	SMAD binding	IDA
GO:0046332	SMAD binding	IPI
GO:0046872	metal ion binding	IEA
GO:0046982	protein heterodimerization activity	IEA
GO:0050431	transforming growth factor beta binding	IDA
GO:0050431	transforming growth factor beta binding	IMP
GO:0050431	transforming growth factor beta binding	IPI
GO:0070411	I-SMAD binding	IPI

GeneCards	TGFBR1
PDB	3HMM, 2WOU, 2WOT, 1IAS, 3KCF, 2PJY, 3FAA, 2X7O, 1B6C, 1VJY, 1PY5, 1TBI, 3KFD, 3GXL, 1RW8
UniProt	Q5T7S2, Q6IR47, P36897
MIM	190181
Ensembl	ENSG00000106799
HGNC	11772
HPRD	01822

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RefSeq Accession	Definition	Sequence	Price	Select
NM_001130916	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA.	Full Length	$2809.80
NM_001130916		ORF Sequence	$371.49
NM_004612	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	Full Length	$2913.75
NM_004612		ORF Sequence	$438.48