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

Gene ID: 7040, updated on 2-Oct-2023

Summary

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Official Symbol: TGFB1provided by HGNC
Official Full Name: transforming growth factor beta 1provided by HGNC
Primary source: HGNC:HGNC:11766
See related: Ensembl:ENSG00000105329 MIM:190180; AllianceGenome:HGNC:11766
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CED; LAP; DPD1; TGFB; IBDIMDE; TGFbeta; TGF-beta1
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]
Expression: Broad expression in spleen (RPKM 38.0), bone marrow (RPKM 32.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

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See TGFB1 in Genome Data Viewer

Location:: 19q13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41330323..41353922, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (44151181..44174790, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41836228..41859827, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Secreted folate receptor gamma drives fibrogenesis in metabolic dysfunction-associated steatohepatitis by amplifying TGFbeta signaling in hepatic stellate cells.
Title: Secreted folate receptor γ drives fibrogenesis in metabolic dysfunction-associated steatohepatitis by amplifying TGFβ signaling in hepatic stellate cells.
Externalized histones fuel pulmonary fibrosis via a platelet-macrophage circuit of TGFbeta1 and IL-27.
Title: Externalized histones fuel pulmonary fibrosis via a platelet-macrophage circuit of TGFβ1 and IL-27.
ESRRB Inhibits the TGFbeta Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.
Title: ESRRB Inhibits the TGFβ Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.
Cullin 4B Ubiquitin Ligase Is Important for Cell Survival and Regulates TGF-beta1 Expression in Pleural Mesothelioma.
Title: Cullin 4B Ubiquitin Ligase Is Important for Cell Survival and Regulates TGF-β1 Expression in Pleural Mesothelioma.
LGR4 promotes tumorigenesis by activating TGF-beta1/Smad signaling pathway in multiple myeloma.
Title: LGR4 promotes tumorigenesis by activating TGF-β1/Smad signaling pathway in multiple myeloma.
Genetic Variations in IL-1beta, TNF-alpha, and TGF-beta Associated with the Severity of Chronic Cervical Spondylitis in Patients.
Title: Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients.
SPARC Is Highly Expressed in Young Skin and Promotes Extracellular Matrix Integrity in Fibroblasts via the TGF-beta Signaling Pathway.
Title: SPARC Is Highly Expressed in Young Skin and Promotes Extracellular Matrix Integrity in Fibroblasts via the TGF-β Signaling Pathway.
Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms.
Title: Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms.
Cancer-associated fibroblasts drive CXCL13 production in activated T cells via TGF-beta.
Title: Cancer-associated fibroblasts drive CXCL13 production in activated T cells via TGF-beta.
The Effects of Mesenchymal Stem Cells on the Gene Expression of TGF-beta and IFN-gamma in Patients with Rheumatoid Arthritis.
Title: The Effects of Mesenchymal Stem Cells on the Gene Expression of TGF-beta and IFN-gamma in Patients with Rheumatoid Arthritis.

Submit: New GeneRIF Correction See all GeneRIFs (4244)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cystic fibrosis MedGen: C0010674 OMIM: 219700 GeneReviews: Cystic Fibrosis	Compare labs
Diaphyseal dysplasia MedGen: C0011989 OMIM: 131300 GeneReviews: Camurati-Engelmann Disease	Compare labs
Inflammatory bowel disease, immunodeficiency, and encephalopathy MedGen: C4748708 OMIM: 618213 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 replication is restricted by TGFB1 and SMAD2 in Langerhans cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Recombinant HIV-1 Env (gp120) induces high levels of TGFB1 mRNA expression in CD34+ hematopoietic progenitor cells	PubMed
	env	HIV-1 gp120-induced downregulation of CD80 and upregulation of FCRL4 involve the TGF-beta1 signaling pathway in human B cells	PubMed
	env	Inactivated HIV or gp120 increases HCV replication and enhances HCV-regulated transforming growth factor (TGF)-beta1 expression	PubMed
	env	HIV-1 gp120-induced apoptosis in human proximal renal tubular cells is significantly enhanced by p300, and Smad7 and an anti-TGF-beta antibody inhibit this effect of p300	PubMed
	env	HIV-1 gp120 and p300 synergistically increase TGF-beta, ATF-2 and activating protein-1 (AP-1) expression leading to tubular cell apoptosis; in addition, HIV-1 gp120 treatment causes phosphorylation of Smad2 and downregulation of c-Jun	PubMed
	env	HIV-1 gp120-mediated suppression of CD34+ cell growth is entirely due to an upregulation of endogenous TGF-beta 1	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 induces TGF-beta production in human PBMC	PubMed
	env	HIV-1 gp160 and serum-free macrophage supernatant (MSP) enhance synthesis of type IV collagen by mesangial cells; anti-TGF-beta antibodies attenuate this gp160/MSP-induced collagen synthesis	PubMed
Tat	tat	Primary human Muller glia cells treated with both HIV-1 clade B and clade C Tat upregulate the expression of anti-inflammatory proteins IL-10 and TGF-beta	PubMed
	tat	HIV-1 Tat protein permits the survival and replication of a non-pathogenic trypanosomatid in macrophages through TGF-beta1 production	PubMed
	tat	HIV-1 Tat binds to GLI2 and GLI2 binds to the human TGFB1 promoter, suggesting a potential mechanism for TGFB1 induction in HIV-1 infection	PubMed
	tat	HIV-1 Tat and TGF-beta secretion enhance parasite entry in human macrophages by upregulating surface expression of CD91/LRP-1	PubMed
	tat	TGF-beta inhibits/down-modulates HIV-1 Tat-induced IL-8 production	PubMed
	tat	HIV-1 Tat upregulation of TGF-beta 1 is likely involved in the regulation of MCP-1 transcription by Tat and the interactions of Tat with Smad-3 and Smad-4, two transcription factors whose activities are induced by the TGF-beta 1 pathway	PubMed
	tat	HIV-1 Tat upregulates TGF-beta 1 expression in a manner involving IL-6, an effect mediated by Tat amino acids 1-48 and potentially associated with immunosuppression, nephropathy, hematopoietic suppression and glomerulosclerosis	PubMed
Vpr	vpr	HIV-1 Vpr impairs NK cell function through cytokine dysregulation, including diminshed expression of CD107a, reduced production of IFN-gamma, differential regulation of IL-12 and TGF-beta, and activation of the Smad3 signalling pathway	PubMed
Vpu	vpu	Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects	PubMed
	vpu	HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to activate release of transforming growth factor beta to culture supernatant, which correlates with increased activity of the AP-1 transcription factor	PubMed
capsid	gag	Treatment of monocyte-derived dendritic cells with TGF-beta1 significantly enhances their ability to capture HIV-1 particles measured by p24 levels in cells	PubMed
	gag	Transforming growth factor-beta1 is involved in the enhanced expression of HIV-1 by nicotine, as measured by p24 antigen levels in culture supernatants	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:624780 (e-PCR)
- UniSTS:158357

GDB:624783 (e-PCR)
- UniSTS:158358

TGFB1 (e-PCR), detects polymorphism
- UniSTS:498077

STS-X02812 (e-PCR)
- UniSTS:19102

RH76684 (e-PCR)
- UniSTS:90301

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine activity	TAS Traceable Author Statement more info	PubMed
enables deubiquitinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables growth factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables type I transforming growth factor beta receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables type I transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables type II transforming growth factor beta receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables type II transforming growth factor beta receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables type II transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables type III transforming growth factor beta receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables type III transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell junction organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to low-density lipoprotein particle stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chondrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in connective tissue replacement involved in inflammatory response wound healing	TAS Traceable Author Statement more info	PubMed
involved_in embryonic liver development	ISS Inferred from Sequence or Structural Similarity more info
involved_in epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular matrix assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic progenitor cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in hyaluronan catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lymph node development	ISS Inferred from Sequence or Structural Similarity more info
involved_in macrophage derived foam cell differentiation	IC Inferred by Curator more info	PubMed
involved_in membrane protein intracellular domain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in myofibroblast differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of biomineral tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of blood vessel endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of extracellular matrix disassembly	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of hyaluronan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macrophage cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of skeletal muscle tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube development	ISS Inferred from Sequence or Structural Similarity more info
involved_in odontoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphate-containing compound metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NAD+ ADP-ribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemokine (C-X-C motif) ligand 2 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of extracellular matrix assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of extracellular matrix assembly	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of fibroblast migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-17 production	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of isotype switching to IgA isotypes	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mesenchymal stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of microglia differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of primary miRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of receptor signaling pathway via STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of superoxide anion generation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of vascular permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood vessel remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of blood vessel remodeling	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell migration	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
NOT involved_in regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of striated muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cholesterol	IDA Inferred from Direct Assay more info	PubMed
involved_in response to estradiol	IDA Inferred from Direct Assay more info	PubMed
involved_in response to progesterone	IDA Inferred from Direct Assay more info	PubMed
involved_in response to wounding	IEP Inferred from Expression Pattern more info	PubMed
involved_in salivary gland morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in selective autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in blood microparticle	HDA more info	PubMed
located_in cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in extracellular space	IC Inferred by Curator more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transforming growth factor beta-1 proprotein

Names: TGF-beta-1; latency-associated peptide; prepro-transforming growth factor beta-1; transforming growth factor beta1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013364.1 RefSeqGene

Range

5005..28604

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000660.7 → NP_000651.3 transforming growth factor beta-1 proprotein preproprotein

See identical proteins and their annotated locations for NP_000651.3

Status: REVIEWED

Source sequence(s)

AC011462, BC000125, BM692012, X02812

Consensus CDS

CCDS33031.1

UniProtKB/Swiss-Prot

A8K792, P01137, Q9UCG4

UniProtKB/TrEMBL

A0A024R0P8, A0A499FJK2

Related

ENSP00000221930.4, ENST00000221930.6

Conserved Domains (2) summary

cd19384
Location:292 → 390

TGF_beta_TGFB1; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-1 (TGF-beta-1) and similar proteins

pfam00688
Location:30 → 261

TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

41330323..41353922 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527242.3 → XP_011525544.1 transforming growth factor beta-1 proprotein isoform X1

See identical proteins and their annotated locations for XP_011525544.1

UniProtKB/TrEMBL

A0A024R0P8

Conserved Domains (2) summary

cd19384
Location:293 → 391

TGF_beta_TGFB1; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-1 (TGF-beta-1) and similar proteins

pfam00688
Location:30 → 262

TGFb_propeptide; TGF-beta propeptide