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TGFB1 transforming growth factor, beta 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000660 Homo sapiens transforming growth factor, beta 1 (TGFB1), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol TGFB1
Entrez Gene ID 7040
Full Name transforming growth factor, beta 1
Synonyms CED, DPD1, LAP, TGFB, TGFbeta
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.1

Summary This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types. Many cells have TGFB receptors, and the protein positively and negatively regulates many other growth factors. The secreted protein is cleaved into a latency-associated peptide (LAP) and a mature TGFB1 peptide, and is found in either a latent form composed of a TGFB1 homodimer, a LAP homodimer, and a latent TGFB1-binding protein, or in an active form composed of a TGFB1 homodimer. The mature peptide may also form heterodimers with other TGFB family members. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease.[provided by RefSeq, Oct 2009].
Disorder

MIM: 190180

Camurati-Engelmann disease, 131300 (3); {Cystic fibrosis lung

mRNA Protein Product Sequence Price Select
NM_000660, 551411950 NP_000651, 63025222 transforming growth factor beta-1 precursor ORF Sequence $400.00
KEGG
hsa04110Cell cycle
hsa04010MAPK signaling pathway
hsa04060Cytokine-cytokine receptor interaction
hsa04350TGF-beta signaling pathway
hsa05211Renal cell carcinoma
hsa05212Pancreatic cancer
hsa05200Pathways in cancer
hsa05210Colorectal cancer
hsa05220Chronic myeloid leukemia
hsa04144Endocytosis
hsa04672Intestinal immune network for IgA production
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05142Chagas disease (American trypanosomiasis)
hsa05140Leishmaniasis
hsa05145Toxoplasmosis
hsa05144Malaria
hsa05146Amoebiasis
hsa05323Rheumatoid arthritis
hsa05166HTLV-I infection
hsa04380Osteoclast differentiation
hsa05152Tuberculosis
hsa05161Hepatitis B
hsa04390Hippo signaling pathway
hsa05205Proteoglycans in cancer
hsa05321Inflammatory bowel disease (IBD)
hsa04932Non-alcoholic fatty liver disease (NAFLD)
hsa04068FoxO signaling pathway
WikiPathways
WP554ACE Inhibitor Pathway
WP382MAPK signaling pathway
WP1559TFs Regulate miRNAs related to cardiac hypertrophy
WP1544MicroRNAs in cardiomyocyte hypertrophy
WP366TGF-beta Receptor Signaling Pathway
WP615Senescence and Autophagy
WP474Endochondral Ossification
WP560TGF Beta Signaling Pathway
WP530Cytokines and Inflammatory Response
WP179Cell cycle
WP710DNA damage response (only ATM dependent)
WP236Adipogenesis
WP69TCR Signaling Pathway
WP2332Interleukin-11 Signaling Pathway
WP2377Integrated Pancreatic Cancer Pathway
WP2406Cardiac Progenitor Differentiation
WP2431Spinal Cord Injury
WP2355Corticotropin-releasing hormone
Pathway Interaction Database
il27pathwayIL27-mediated signaling events
il12_stat4pathwayIL12 signaling mediated by STAT4
telomerasepathwayRegulation of Telomerase
rxr_vdr_pathwayRXR and RAR heterodimerization with other nuclear receptor
alk1pathwayALK1 signaling events
syndecan_1_pathwaySyndecan-1-mediated signaling events
tgfbrpathwayTGF-beta receptor signaling
syndecan_2_pathwaySyndecan-2-mediated signaling events
glypican_1pathwayGlypican 1 network
Reactome
REACT_798Platelet activation, signaling and aggregation
REACT_604Hemostasis
REACT_318Platelet degranulation
REACT_6167Influenza Infection
REACT_6213Influenza Virus Induced Apoptosis
REACT_1280Response to elevated platelet cytosolic Ca2+
REACT_6323Host Interactions with Influenza Factors
REACT_6844Signaling by TGF-beta Receptor Complex
REACT_27161Transcriptional regulation of white adipocyte differentiation
REACT_111045Developmental Biology
REACT_111102Signal Transduction
REACT_116125Disease
REACT_118779Extracellular matrix organization
REACT_120726TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
REACT_120850TGF-beta receptor signaling activates SMADs
REACT_120727Downregulation of TGF-beta receptor signaling
REACT_163906ECM proteoglycans
REACT_163942Syndecan interactions
REACT_163874Non-integrin membrane-ECM interactions
REACT_150366Elastic fibre formation
REACT_150331Molecules associated with elastic fibres
REACT_169103SMAD2/3 Phosphorylation Motif Mutants in Cancer
REACT_169192TGFBR2 MSI Frameshift Mutants in Cancer
REACT_169440TGFBR2 Kinase Domain Mutants in Cancer
REACT_169165SMAD2/3 MH2 Domain Mutants in Cancer
REACT_169107SMAD4 MH2 Domain Mutants in Cancer
REACT_169311Loss of Function of TGFBR1 in Cancer
REACT_169122Signaling by TGF-beta Receptor Complex in Cancer
REACT_169263TGFBR1 KD Mutants in Cancer
REACT_169435Loss of Function of TGFBR2 in Cancer
REACT_169219Loss of Function of SMAD4 in Cancer
REACT_169398Loss of Function of SMAD2/3 in Cancer
REACT_169445TGFBR1 LBD Mutants in Cancer
Homo sapiens (human)TGFB1NP_000651.3
Pan troglodytes (chimpanzee)TGFB1XP_512687.2
Canis lupus familiaris (dog)TGFB1NP_001003309.1
Bos taurus (cattle)TGFB1NP_001159540.1
Mus musculus (house mouse)Tgfb1NP_035707.1
Rattus norvegicus (Norway rat)Tgfb1NP_067589.1
Danio rerio (zebrafish)LOC563884XP_692338.3
Danio rerio (zebrafish)tgfb1aNP_878293.1
Xenopus (Silurana) tropicalis (western clawed frog)tgfb1XP_002939433.1
Process
IDNameEvidence
GO:0000060protein import into nucleus, translocationIDA
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA
GO:0000165MAPK cascadeIMP
GO:0001657ureteric bud developmentIEA
GO:0001666response to hypoxiaIEA
GO:0001837epithelial to mesenchymal transitionIEA
GO:0001933negative regulation of protein phosphorylationIDA
GO:0001934positive regulation of protein phosphorylationIDA
GO:0002028regulation of sodium ion transportIEA
GO:0002062chondrocyte differentiationIDA
GO:0002244hematopoietic progenitor cell differentiationIDA
GO:0002248connective tissue replacement involved in inflammatory response wound healingTAS
GO:0002460adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domainsIEA
GO:0002513tolerance induction to self antigenIEA
GO:0002576platelet degranulationTAS
GO:0006468protein phosphorylationISS
GO:0006611protein export from nucleusIDA
GO:0006754ATP biosynthetic processIDA
GO:0006796phosphate-containing compound metabolic processIDA
GO:0006874cellular calcium ion homeostasisIEA
GO:0006954inflammatory responseIDA
GO:0007050cell cycle arrestIDA
GO:0007093mitotic cell cycle checkpointIDA
GO:0007173epidermal growth factor receptor signaling pathwayIDA
GO:0007179transforming growth factor beta receptor signaling pathwayIDA
GO:0007179transforming growth factor beta receptor signaling pathwayTAS
GO:0007182common-partner SMAD protein phosphorylationIDA
GO:0007183SMAD protein complex assemblyIDA
GO:0007184SMAD protein import into nucleusIDA
GO:0007406negative regulation of neuroblast proliferationIEA
GO:0007435salivary gland morphogenesisIEP
GO:0007492endoderm developmentIEA
GO:0007565female pregnancyIEA
GO:0007568agingIEA
GO:0007596blood coagulationTAS
GO:0008156negative regulation of DNA replicationIMP
GO:0008284positive regulation of cell proliferationIDA
GO:0008285negative regulation of cell proliferationIDA
GO:0008354germ cell migrationIEA
GO:0009314response to radiationIEA
GO:0009611response to woundingIEP
GO:0009749response to glucoseIEA
GO:0009790embryo developmentIEA
GO:0009817defense response to fungus, incompatible interactionIEA
GO:0010575positive regulation vascular endothelial growth factor productionTAS
GO:0010628positive regulation of gene expressionIDA
GO:0010629negative regulation of gene expressionIDA
GO:0010716negative regulation of extracellular matrix disassemblyIC
GO:0010718positive regulation of epithelial to mesenchymal transitionIDA
GO:0010718positive regulation of epithelial to mesenchymal transitionNAS
GO:0010742macrophage derived foam cell differentiationIC
GO:0010763positive regulation of fibroblast migrationIDA
GO:0010800positive regulation of peptidyl-threonine phosphorylationIDA
GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylationIDA
GO:0010936negative regulation of macrophage cytokine productionIDA
GO:0016049cell growthIEA
GO:0016202regulation of striated muscle tissue developmentISS
GO:0017015regulation of transforming growth factor beta receptor signaling pathwayIDA
GO:0019048modulation by virus of host morphology or physiologyTAS
GO:0019049evasion or tolerance of host defenses by virusIDA
GO:0019058viral life cycleTAS
GO:0022408negative regulation of cell-cell adhesionIDA
GO:0030168platelet activationTAS
GO:0030198extracellular matrix organizationTAS
GO:0030214hyaluronan catabolic processIDA
GO:0030279negative regulation of ossificationIEA
GO:0030308negative regulation of cell growthIDA
GO:0030334regulation of cell migrationTAS
GO:0030335positive regulation of cell migrationIDA
GO:0030501positive regulation of bone mineralizationIEP
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathwayTAS
GO:0031065positive regulation of histone deacetylationIEA
GO:0031100organ regenerationIEA
GO:0031334positive regulation of protein complex assemblyIDA
GO:0031536positive regulation of exit from mitosisIEA
GO:0031663lipopolysaccharide-mediated signaling pathwayIDA
GO:0032270positive regulation of cellular protein metabolic processIDA
GO:0032355response to estradiolIDA
GO:0032570response to progesteroneIDA
GO:0032740positive regulation of interleukin-17 productionIDA
GO:0032801receptor catabolic processIDA
GO:0032930positive regulation of superoxide anion generationIDA
GO:0032943mononuclear cell proliferationIEA
GO:0032967positive regulation of collagen biosynthetic processIDA
GO:0032967positive regulation of collagen biosynthetic processIMP
GO:0033138positive regulation of peptidyl-serine phosphorylationIDA
GO:0033280response to vitamin DIEA
GO:0034616response to laminar fluid shear stressIEA
GO:0035066positive regulation of histone acetylationIEA
GO:0035307positive regulation of protein dephosphorylationIDA
GO:0042130negative regulation of T cell proliferationIEA
GO:0042306regulation of protein import into nucleusISS
GO:0042307positive regulation of protein import into nucleusIDA
GO:0042482positive regulation of odontogenesisIEA
GO:0042493response to drugIEA
GO:0042552myelinationIEA
GO:0043011myeloid dendritic cell differentiationIEA
GO:0043029T cell homeostasisIEA
GO:0043065positive regulation of apoptotic processIEA
GO:0043406positive regulation of MAP kinase activityIDA
GO:0043491protein kinase B signalingIMP
GO:0043536positive regulation of blood vessel endothelial cell migrationIDA
GO:0043537negative regulation of blood vessel endothelial cell migrationIDA
GO:0043552positive regulation of phosphatidylinositol 3-kinase activityIDA
GO:0043932ossification involved in bone remodelingIEP
GO:0045066regulatory T cell differentiationIEA
GO:0045216cell-cell junction organizationIDA
GO:0045599negative regulation of fat cell differentiationIDA
GO:0045662negative regulation of myoblast differentiationIDA
GO:0045786negative regulation of cell cycleIDA
GO:0045892negative regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedISS
GO:0045930negative regulation of mitotic cell cycleIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0046732active induction of host immune response by virusTAS
GO:0048298positive regulation of isotype switching to IgA isotypesIDA
GO:0048535lymph node developmentISS
GO:0048565digestive tract developmentIEA
GO:0048642negative regulation of skeletal muscle tissue developmentIDA
GO:0048839inner ear developmentIEA
GO:0050679positive regulation of epithelial cell proliferationIEA
GO:0050680negative regulation of epithelial cell proliferationIDA
GO:0050680negative regulation of epithelial cell proliferationIMP
GO:0050714positive regulation of protein secretionIDA
GO:0050765negative regulation of phagocytosisIEA
GO:0050777negative regulation of immune responseIEA
GO:0050921positive regulation of chemotaxisIDA
GO:0051092positive regulation of NF-kappaB transcription factor activityIEA
GO:0051098regulation of bindingISS
GO:0051101regulation of DNA bindingISS
GO:0051152positive regulation of smooth muscle cell differentiationIEA
GO:0051280negative regulation of release of sequestered calcium ion into cytosolIEA
GO:0051781positive regulation of cell divisionIEA
GO:0051897positive regulation of protein kinase B signalingIDA
GO:0060312regulation of blood vessel remodelingIC
GO:0060325face morphogenesisIEA
GO:0060364frontal suture morphogenesisIEA
GO:0060389pathway-restricted SMAD protein phosphorylationIDA
GO:0060391positive regulation of SMAD protein import into nucleusIDA
GO:0060744mammary gland branching involved in thelarcheIEA
GO:0060751branch elongation involved in mammary gland duct branchingIEA
GO:0060762regulation of branching involved in mammary gland duct morphogenesisIEA
GO:0061035regulation of cartilage developmentIEA
GO:0070306lens fiber cell differentiationIEA
GO:0070723response to cholesterolIDA
GO:0071158positive regulation of cell cycle arrestIEA
GO:0071407cellular response to organic cyclic compoundIDA
GO:0071549cellular response to dexamethasone stimulusIEA
GO:0071560cellular response to transforming growth factor beta stimulusIDA
GO:0085029extracellular matrix assemblyIDA
GO:0090190positive regulation of branching involved in ureteric bud morphogenesisIEA
GO:0097191extrinsic apoptotic signaling pathwayIDA
GO:1900126negative regulation of hyaluronan biosynthetic processIDA
GO:1901203positive regulation of extracellular matrix assemblyIC
GO:1901666positive regulation of NAD+ ADP-ribosyltransferase activityIDA
GO:2000628regulation of miRNA metabolic processIDA
GO:2000679positive regulation of transcription regulatory region DNA bindingIDA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005578proteinaceous extracellular matrixISS
GO:0005615extracellular spaceIDA
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005796Golgi lumenTAS
GO:0005886plasma membraneTAS
GO:0005902microvillusIDA
GO:0009986cell surfaceIMP
GO:0030424axonIEA
GO:0031093platelet alpha granule lumenTAS
GO:0043025neuronal cell bodyIEA
GO:0072562blood microparticleIDA
Function
IDNameEvidence
GO:0001948glycoprotein bindingIPI
GO:0003823antigen bindingIPI
GO:0005114type II transforming growth factor beta receptor bindingIDA
GO:0005114type II transforming growth factor beta receptor bindingIPI
GO:0005125cytokine activityTAS
GO:0005515protein bindingIPI
GO:0008083growth factor activityIEA
GO:0019899enzyme bindingIPI
GO:0042803protein homodimerization activityIEA
GO:0046982protein heterodimerization activityIEA
GO:0047485protein N-terminus bindingIEA
GeneCards TGFB1
PDB 1KLA, 3KFD, 1KLD, 1KLC
UniProt P01137
MIM 190180
HGNC 11766
HPRD 01821

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TGFB1 gene?

The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, this protein is turned off (inactive) until it receives a chemical signal to become active.

Interactant

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