TGFB1

TGFB1 Gene Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]

Details

Type
Processed Transcript
Official Symbol
TGFB1
Official Name
transforming growth factor beta 1 [Source:HGNC Symbol;Acc:HGNC:11766]
Ensembl ID
ENSG00000105329
Bio databases IDs NCBI: 7040 Ensembl: ENSG00000105329
Aliases transforming growth factor beta 1, Camurati-Engelmann disease, prepro-transforming growth factor beta-1, Diaphyseal dysplasia 1, progressive
Synonyms
Beta Ig-h3,CED,DPD1,IBDIMDE,LAP,TGFB,TGFbeta,TGF-beta1,TGF-β,TGF-β1,tgf-β(1),transforming beta-1 growth factor,transforming growth factor beta 1,transforming growth factor, beta 1,transforming growth factor-β 1,Transforming growth factor-β(1),transforming growth factor, β 1,transforming β-1 growth factor,β Ig-h3
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • punt binding
  • TGF_beta_SF
  • RGD motif
  • Transforming growth factor beta like domain
  • signal peptide
  • enzyme binding
  • antigen binding
  • protein binding
  • cytokine
  • protease activator
  • identical protein binding
  • growth factor
  • protein kinase activator
  • FAS1 domain
  • binding protein
  • transforming growth factor-beta receptor binding
  • TGF-beta propeptide

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • HSP90AB1
  • STUB1
  • DIP2A
  • IGFL3
  • DDX3X
  • FSTL4
  • TGFBR2
  • ZNF32
  • APP
  • TGFBR
disease
  • delayed hypersensitive reaction
  • neoplasia
  • allodynia
  • metastasis
  • demyelination
  • epithelial cancer
  • epithelial neoplasia
  • cancer
  • tumorigenesis
  • experimental autoimmune encephalomyelitis
regulated by
  • NIST SRM 1648
  • ethanol
  • A549 cells
  • APOE
  • ABCG1
  • D-4F
  • insulin
  • mitochondrial DNA
  • INS
  • L-triiodothyronine
regulates
  • Ca2+
  • PRKCA
  • APOB
  • cholesterol
  • HSP90AA1
  • PDGFRA
  • KIT
  • CXCR2
  • histone H3
  • H2AX
role in cell
  • accumulation in
  • acetylation in
  • apoptosis
  • colony formation by
  • expression in
  • invasion by
  • cell viability
  • peroxidation in
  • migration
  • proliferation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Golgi lumen
  • extracellular vesicles
  • blood microparticle
  • Cytoplasm
  • cell surface
  • intracellular space
  • perinuclear region
  • Nucleus
  • Plasma Membrane
  • Mitochondria
  • trans Golgi network
  • nuclear rim
  • alpha granules
  • secretory granules
  • extracellular matrix
  • microvilli
  • perikaryon
  • axons
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the TGFB1 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • retina vasculature development in camera-type eye
  • frontal suture morphogenesis
  • regulation of branching involved in mammary gland duct morphogenesis
  • endoderm development
  • negative regulation of cell-cell adhesion
  • response to progesterone stimulus
  • extracellular matrix assembly
  • hemopoietic progenitor cell differentiation
  • heart valve morphogenesis
  • positive regulation of protein metabolic process
  • positive regulation of collagen biosynthetic process
  • epithelial cell proliferation
  • negative regulation of neuroblast proliferation
  • tolerance induction to self antigen
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • negative regulation of skeletal muscle tissue development
  • positive regulation of primary miRNA processing
  • negative regulation of cell growth
  • negative regulation of macrophage cytokine production
  • odontoblast differentiation
  • negative regulation of biomineral tissue development
  • positive regulation of endothelial cell apoptotic process
  • positive regulation of protein secretion
  • defense response to fungus
  • positive regulation of epithelial cell proliferation
  • neuron apoptotic process
  • response to cholesterol
  • regulation of protein import into nucleus
  • positive regulation of protein import into nucleus
  • branch elongation involved in mammary gland duct branching
  • aortic valve morphogenesis
  • cell morphogenesis
  • positive regulation of inflammatory response
  • germ cell migration
  • protein export from nucleus
  • positive regulation of vascular permeability
  • positive regulation of branching involved in ureteric bud morphogenesis
  • connective tissue replacement involved in inflammatory response wound healing
  • response to laminar fluid shear stress
  • regulation of actin cytoskeleton organization
  • negative regulation of myoblast differentiation
  • negative regulation of epithelial cell proliferation
  • epithelial to mesenchymal transition
  • positive regulation of protein dephosphorylation
  • positive regulation of protein kinase B signaling cascade
  • cellular response to low-density lipoprotein particle stimulus
  • negative regulation of cell proliferation
  • positive regulation of cell proliferation
  • extrinsic apoptotic signaling pathway
  • negative regulation of cell cycle
  • positive regulation of I-kappaB kinase/NF-kappaB cascade
  • chondrocyte differentiation
  • myelination
  • lymph node development
  • adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
  • response to xenobiotic stimulus
  • positive regulation of transcription from RNA polymerase II promoter
  • surfactant homeostasis
  • columnar/cuboidal epithelial cell maturation
  • positive regulation of smooth muscle cell proliferation
  • heart development
  • positive regulation of cell division
  • positive regulation of fibroblast proliferation
  • stem cell proliferation
  • negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target
  • positive regulation of mononuclear cell migration
  • positive regulation of SMAD protein import into nucleus
  • negative regulation of interleukin-17 production
  • regulation of interleukin-23 production
  • positive regulation of protein complex assembly
  • positive regulation of peptidyl-tyrosine phosphorylation
  • negative regulation of blood vessel endothelial cell migration
  • membrane protein intracellular domain proteolysis
  • negative regulation of release of sequestered calcium ion into cytosol
  • positive regulation of MAPK cascade
  • phosphate-containing compound metabolic process
  • positive regulation of blood vessel endothelial cell migration
  • regulation of enamel mineralization
  • cellular response to mechanical stimulus
  • ureteric bud development
  • positive regulation of smooth muscle cell differentiation
  • negative regulation of protein phosphorylation
  • cellular response to dexamethasone stimulus
  • positive regulation of fibroblast migration
  • positive regulation of superoxide anion generation
  • neural tube development
  • inner ear development
  • ventricular cardiac muscle tissue morphogenesis
  • transforming growth factor beta receptor signaling pathway
  • sprouting angiogenesis
  • phospholipid homeostasis
  • face morphogenesis
  • T cell homeostasis
  • lung alveolus development
  • receptor catabolic process
  • cellular response to glucose stimulus
  • digestive tract development
  • positive regulation of tumor necrosis factor production
  • cellular response to hypoxia
  • positive regulation vascular endothelial growth factor production
  • positive regulation of protein localization to nucleus
  • positive regulation of canonical Wnt receptor signaling pathway
  • regulation of blood vessel remodeling
  • cell-cell junction organization
  • bronchiole development
  • positive regulation of cardiac muscle cell differentiation
  • positive regulation of isotype switching to IgA isotypes
  • negative regulation of gene expression
  • cellular response to transforming growth factor beta stimulus
  • Notch signaling pathway
  • positive regulation of gene expression
  • regulatory T cell differentiation
  • response to estradiol stimulus
  • gene expression
  • macrophage derived foam cell differentiation
  • response to immobilization stress
  • regulation of cell migration
  • positive regulation of interleukin-6 production
  • regulation of striated muscle tissue development
  • positive regulation of chemotaxis
  • positive regulation of cell migration
  • hyaluronan catabolic process
  • negative regulation of phagocytosis
  • oligodendrocyte development
  • regulation of cartilage development
  • muscle cell homeostasis
  • response to vitamin D
  • positive regulation of epidermal growth factor receptor signaling pathway
  • response to wounding
  • odontogenesis of dentin-containing tooth
  • vasculogenesis
  • mammary gland branching involved in thelarche
  • salivary gland morphogenesis
  • negative regulation of transcription from RNA polymerase II promoter
  • positive regulation of regulatory T cell differentiation
  • positive regulation of epithelial to mesenchymal transition
  • positive regulation of exit from mitosis
  • neural tube closure
  • negative regulation of cell differentiation
  • positive regulation of odontogenesis
  • negative regulation of extracellular matrix disassembly
  • cellular response to ionizing radiation
  • positive regulation of interleukin-17 production
  • canonical Wnt receptor signaling pathway
  • lens fiber cell differentiation
  • negative regulation of fat cell differentiation
  • female pregnancy
  • negative regulation of hyaluronan biosynthetic process
  • ATP biosynthetic process
  • regulation of cell proliferation
  • cellular calcium ion homeostasis
  • osteoclast differentiation
  • regulation of sodium ion transport
  • negative regulation of T cell proliferation
  • T cell proliferation
  • positive regulation of ERK1 and ERK2 cascade
  • positive regulation of chemokine (C-X-C motif) ligand 2 production
  • negative regulation of ossification
  • positive regulation of microglia differentiation

CELLULAR COMPONENT

Where in the cell the gene product is active
  • platelet alpha granule lumen
  • neuronal cell body
  • Golgi lumen
  • extracellular region
  • plasma membrane
  • cell surface
  • nucleus
  • extracellular space
  • microvillus
  • cytoplasm
  • blood microparticle
  • extracellular matrix
  • axon

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • identical protein binding
  • growth factor activity
  • protein serine/threonine kinase activator activity
  • protein binding
  • antigen binding
  • ubiquitin-specific protease activator activity
  • cytokine activity
  • type III transforming growth factor beta receptor binding
  • type II transforming growth factor beta receptor binding
  • type I transforming growth factor beta receptor binding
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.