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

    Gene ID: 7040, updated on 15-May-2013
    Official Symbol
    TGFB1provided by HGNC
    Official Full Name
    transforming growth factor, beta 1provided by HGNC
    Primary source
    HGNC:11766
    See related
    HPRD:01821; MIM:190180
    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; TGFbeta
    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]
    Location :
    19q13.1
    Sequence :
    Chromosome: 19; NC_000019.9 (41836812..41859831, complement)
    See TGFB1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein U-like 1 Neighboring gene coiled-coil domain containing 97 Neighboring gene B9 protein domain 2 Neighboring gene transmembrane protein 91 Neighboring gene exosome component 5

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

    Cystic fibrosis

    Summary from GeneReviews: CFTR-Related Disorders Go to GeneReviews

    Disease Characteristics
    CFTR-related disorders include cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF. Affected individuals have lower airway inflammation and chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage (bronchiectasis, cysts, and abscesses) and fibrosis of lung parenchyma. Meconium ileus occurs at birth in 15%-20% of newborns with CF. Pancreatic insufficiency with malabsorption occurs in the great majority of individuals with CF. More than 95% of males with CF are infertile as a result of azoospermia caused by absent, atrophic, or fibrotic Wolffian duct structures. CAVD occurs in men without pulmonary or gastrointestinal manifestations of CF. Affected men have azoospermia and are thus infertile.
    Diagnosis Testing
    Most commonly the diagnosis of cystic fibrosis (CF) is established in individuals with one or more characteristic phenotypic features of CF plus evidence of an abnormality in cystic fibrosis transmembrane conductance regulator (CFTR) function based on one of the following: presence of two disease-causing mutations in the CFTR gene or two abnormal quantitative pilocarpine iontophoresis sweat chloride values (>60 mEq/L) or transepithelial nasal potential difference (NPD) measurements characteristic of CF. The CFTR mutation detection rate varies by test method and ethnic background. In some symptomatic individuals, only one or neither disease-causing mutation is detectable; in some carriers, the disease-causing mutation is not detectable. The diagnosis of CFTR-related CAVD is established in males with azoospermia, low volume of ejaculated semen, absence of vas deferens on clinical or ultrasound examination, and at least one disease-causing mutation in CFTR.
    Genetic Counseling
    CFTR-related disorders are inherited in an autosomal recessive manner. Sibs of a proband with cystic fibrosis and brothers of a proband with CAVD have a 25% chance of being affected, a 50% chance of being asymptomatic carriers, and a 25% chance of being unaffected and not carriers. Molecular genetic testing for disease-causing mutation(s) in the CFTR gene is used for carrier detection in population screening programs. Prenatal testing is available for pregnancies at increased risk for CFTR-related disorders if the disease-causing mutations in the family are known.
    References

    Diaphyseal dysplasia

    Summary from GeneReviews: Camurati-Engelmann Disease Go to GeneReviews

    Disease Characteristics
    Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
    Diagnosis Testing
    Diagnosis of CED is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. Bone and muscle histology are nonspecific. TGFB1 is the only gene in which mutations are known to cause CED. Sequence analysis identifies mutations in TGFB1 in approximately 90% of affected individuals and is available clinically.
    Genetic Counseling
    CED is inherited in an autosomal dominant manner. Penetrance is reduced. The incidence of de novo mutations is unknown. Each child of an individual with CED has a 50% chance of inheriting the TGFB1 mutation. Prenatal diagnosis for pregnancies at increased risk is possible for families in which the disease-causing mutation has been identified.
    References
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein 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
    Envelope surface glycoprotein gp120 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
    Tat, p14 tat HIV-1 Tat and TGF-beta secretion enhance parasite entry in human macrophages by upregulating surface expression of CD91/LRP-1 PubMed
    tat HIV-1 Tat protein permits the survival and replication of a non-pathogenic trypanosomatid in macrophages through TGF-beta1 production 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, p15 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
    capsid 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 Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000651.1 NP_000475.1 APP    BIND  PubMed TGF-beta-1 interacts with Amyloid-beta. This interaction was modelled on a demonstrated interaction between TGF-beta-1 from an unspecified species and consensus Amyloid-beta peptides. 
    NP_000651.2 NP_004603.1 TGFBR1    BIND  PubMed TGF-beta-1 interacts with TGF-beta-R-I. This interaction was modeled on a demonstrated interaction between TGF-beta-1 from an unspecified species and human TGF-beta-R-I. 
    NP_000651.2 NP_003233.3 TGFBR2    BIND  PubMed TGF-beta-1 interacts with TGF-beta-R-II. This interaction was modeled on a demonstrated interaction between TGF-beta-1 from an unspecified species and human TGF-beta-R-II. 
    P01137 P37023 ACVRL1    HPRD  PubMed  
    P01137 P05067 APP    HPRD  PubMed  
    P01137 P21810 BGN    HPRD  PubMed  
    P01137 P12643 BMP2    HPRD  PubMed  
    P01137 P12645 BMP3    HPRD  PubMed  
    P01137 P10147 CCL3    HPRD  PubMed  
    P01137 P02458 COL2A1    HPRD  PubMed  
    P01137 P29279 CTGF    HPRD  PubMed  
    P01137 Q9UER7 DAXX    HPRD  PubMed  
    P01137 P07585 DCN    HPRD  PubMed  
    P01137 Q07507 DPT    HPRD  PubMed  
    P01137 Q13347 EIF3I    HPRD  PubMed  
    P01137 P17813 ENG    HPRD  PubMed  
    P01137 O00602 FCN1    HPRD  PubMed  
    P01137 Q06828 FMOD    HPRD  PubMed  
    P01137 P49354 FNTA    HPRD  PubMed  
    P01137 P06756 ITGAV    HPRD  PubMed  
    P01137 P18564 ITGB6    HPRD  PubMed  
    P01137 P26012 ITGB8    HPRD  PubMed  
    P01137 Q9NS15 LTBP3    HPRD  PubMed  
    P01137 Latent TGF beta binding protein 4 LTBP4    HPRD  PubMed  
    P01137 P08253 MMP2    HPRD  PubMed  
    P01137 P20742 PZP    HPRD  PubMed  
    P01137 P34741 SDC2    HPRD  PubMed  
    P01137 P09486 SPARC    HPRD  PubMed  
    P01137 P01137 TGFB1    HPRD  PubMed  
    P01137 P61812 TGFB2    HPRD  PubMed  
    P01137 P36897 TGFBR1    HPRD  PubMed  
    P01137 P37173 TGFBR2    HPRD  PubMed  
    P01137 Q03167 TGFBR3    HPRD  PubMed  
    P01137 P07996 THBS1    HPRD  PubMed  
    P01137 Q6EMK4 VASN    HPRD  PubMed  
    P01137 P04004 VTN    HPRD  PubMed  
    P01137 P62258 YWHAE    HPRD  PubMed  
    BioGRID:112898 BioGRID:106609 ACVRL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:107102 BGN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:107677 COL2A1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:108002 DCN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:114217 EIF3I    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:112898 BioGRID:108513 FCN1    BioGRID  PubMed Co-purification 
    BioGRID:112898 BioGRID:108570 FKBP1A    BioGRID  PubMed Two-hybrid 
    BioGRID:112898 BioGRID:108618 FMOD    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:108625 FNTA    BioGRID  PubMed Two-hybrid 
    BioGRID:112898 BioGRID:110106 LAMB1    BioGRID  PubMed Two-hybrid 
    BioGRID:112898 BioGRID:110230 LTBP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112898 BioGRID:110457 MMP2    BioGRID  PubMed Biochemical Activity 
    BioGRID:112898 BioGRID:110461 MMP9    BioGRID  PubMed Biochemical Activity 
    BioGRID:112898 BioGRID:119157 PARD6A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:111796 PZP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:110262 SMAD2    BioGRID  PubMed Co-localization 
    BioGRID:112898 BioGRID:110263 SMAD3    BioGRID  PubMed Co-localization 
    BioGRID:112898 BioGRID:110267 SMAD7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:122864 SNIP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:112900 TGFB2    BioGRID  PubMed Two-hybrid 
    BioGRID:112898 BioGRID:112904 TGFBR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:112906 TGFBR2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:112907 TGFBR3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:114792 TGFBRAP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112898 BioGRID:112915 THBS1    BioGRID  PubMed Co-purification 
    BioGRID:112898 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:112898 BioGRID:125406 VASN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:113287 VTN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112898 BioGRID:113363 YWHAE    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • RXR and RAR heterodimerization with other nuclear receptor, organism-specific biosystem (from Pathway Interaction Database)
      RXR and RAR heterodimerization with other nuclear receptor, organism-specific biosystem
      RXR and RAR heterodimerization with other nuclear receptor
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Renal cell carcinoma, organism-specific biosystem (from KEGG)
      Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Renal cell carcinoma, conserved biosystem (from KEGG)
      Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
      Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
    • Syndecan-1-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-1-mediated signaling events, organism-specific biosystem
      Syndecan-1-mediated signaling events
    • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-2-mediated signaling events, organism-specific biosystem
      Syndecan-2-mediated signaling events
    • TCR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TCR Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...
    • TFs Regulate miRNAs related to cardiac hypertrophy, organism-specific biosystem (from WikiPathways)
      TFs Regulate miRNAs related to cardiac hypertrophy, organism-specific biosystemTranscription Factors that possibly regulate the expression of microRNAs related to cardiac hypertrophy. Interactions found by using TransMir. MicroRNAs are represented by a purple color and a rounde...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling activates SMADs, organism-specific biosystemBinding of transforming growth factor beta 1 (TGF beta 1, i.e. TGFB1) to TGF beta receptor type 2 (TGFBR2) activates TGF beta receptor signaling cascade. TGFB1 is posttranslationally processed by fur...
    • TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystemIn normal cells and in the early stages of cancer development, signaling by TGF-beta plays a tumor suppressive role, as SMAD2/3:SMAD4-mediated transcription inhibits cell division by downregulating M...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Transcriptional Regulation of White Adipocyte Differentiation, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation of White Adipocyte Differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    eukaryotic cell surface binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    type II transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type II transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
     
    SMAD protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    active induction of host immune response by virus TAS
    Traceable Author Statement
    more info
     
    adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    branch elongation involved in mammary gland duct branching IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell death IEA
    Inferred from Electronic Annotation
    more info
     
    cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
     
    chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    common-partner SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
     
    connective tissue replacement involved in inflammatory response wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    defense response to fungus, incompatible interaction IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    embryo development IEA
    Inferred from Electronic Annotation
    more info
     
    endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    evasion or tolerance of host defenses by virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    frontal suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    germ cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic progenitor cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hyaluronan catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    induction of apoptosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inflammatory response IDA
    Inferred from Direct Assay
    more info
     
    inner ear development IEA
    Inferred from Electronic Annotation
    more info
     
    lens fiber cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    lipopolysaccharide-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
     
    lymph node development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    macrophage derived foam cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    mammary gland branching involved in thelarche IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mononuclear cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    myelination IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of blood vessel endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of hyaluronan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of immune response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macrophage cytokine production IDA
    Inferred from Direct Assay
    more info
     
    negative regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of skeletal muscle tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    ossification involved in bone remodeling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphate-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NAD+ ADP-ribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of NF-kappaB transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of blood vessel endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of bone mineralization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell cycle arrest IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cellular protein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition NAS
    Non-traceable Author Statement
    more info
     
    positive regulation of exit from mitosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of fibroblast migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone deacetylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-17 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of isotype switching to IgA isotypes IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase B signaling cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of superoxide anion generation IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-dependent ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation vascular endothelial growth factor production TAS
    Traceable Author Statement
    more info
    PubMed 
    protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein import into nucleus, translocation IDA
    Inferred from Direct Assay
    more info
     
    protein kinase B signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
     
    protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of branching involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of striated muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulatory T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to laminar fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to progesterone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    salivary gland morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    tolerance induction to self antigen IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    viral infectious cycle TAS
    Traceable Author Statement
    more info
     
    virus-host interaction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    proteinaceous extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    transforming growth factor beta-1
    Names
    transforming growth factor beta-1
    TGF-beta-1
    TGF-beta 1 protein
    latency-associated peptide

    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

    1. NG_013364.1 RefSeqGene

      Range
      5001..28020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000660.4NP_000651.3  transforming growth factor beta-1 precursor

      Status: REVIEWED

      Source sequence(s)
      AI304490, BC022242, BP267938, DA935180
      Consensus CDS
      CCDS33031.1
      UniProtKB/Swiss-Prot
      P01137
      Conserved Domains (2) summary
      pfam00019
      Location:290390
      Blast Score: 336
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:28261
      Blast Score: 311
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p10 Primary Assembly

      Range
      41836812..41859831, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      38268902..38291920, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018930.1 Alternate CHM1_1.0

      Range
      42025070..42048093, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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