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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TGFB1 Gene

protein-coding   GIFtS: 74
GCID: GC19M041837

Transforming Growth Factor, Beta 1


(Previous symbols: TGFB, DPD1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transforming Growth Factor, Beta 11 2     LAP2
TGFB1 2 3     TGFbeta2
DPD11 2 5     Latency-Associated Peptide2
TGF-beta-12 3     TGF-Beta 1 Protein2
CED2 5     Transforming Growth Factor Beta-12
Camurati-Engelmann Disease1     

External Ids:    HGNC: 117661   Entrez Gene: 70402   Ensembl: ENSG000001053297   OMIM: 1901805   UniProtKB: P011373   

Export aliases for TGFB1 gene to outside databases

Previous GC identifers: GC19M042475 GC19M042227 GC19M046484 GC19M046528 GC19M038268


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TGFB1 Gene:
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)

GeneCards Summary for TGFB1 Gene: 
TGFB1 (transforming growth factor, beta 1) is a protein-coding gene. Diseases associated with TGFB1 include camurati-engelmann disease, and communicating hydrocephalus, and among its related super-pathways are ACE Inhibitor Pathway and Cell cycle. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell
types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates
many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of
osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts

Gene Wiki entry for TGFB1 (TGF beta 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TGFB1 gene promoter:
         AhR   MAZR   p53   Nkx2-5   AP-2gamma   Arnt   PPAR-gamma1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGFB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TGFB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGFB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

TGFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFB1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041837:  view genomic region     (about GC identifiers)

Start:
41,807,492 bp from pter      End:
41,859,831 bp from pter
Size:
52,340 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137 (See protein sequence)
Recommended Name: Transforming growth factor beta-1 precursor  
Size: 390 amino acids; 44341 Da
Subunit: Homodimer; disulfide-linked, or heterodimer with TGFB2 (By similarity). Secreted and stored as a
biologically inactive form in the extracellular matrix in a 290 kDa complex (large latent TGF-beta1 complex)
containing the TGFB1 homodimer, the latency-associated peptide (LAP), and the latent TGFB1 binding protein-1
(LTBP1). The complex without LTBP1 is known as the'small latent TGF-beta1 complex'. Dissociation of the TGFB1
from LAP is required for growth factor activation and biological activity. Release of the large latent TGF-beta1
complex from the extracellular matrix is carried out by the matrix metalloproteinase MMP3 (By similarity). May
interact with THSD4; this interaction may lead to sequestration by FBN1 microfibril assembly and attenuation of
TGFB signaling. Interacts with the serine proteases, HTRA1 and HTRA3: the interaction with either inhibits
TGFB1-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity).
Latency-associated peptide interacts with NREP; the interaction results in a decrease in TGFB1 autoinduction (By
similarity). Interacts with CD109, DPT and ASPN
Subcellular location: Secreted, extracellular space, extracellular matrix
4 PDB 3D structures from and Proteopedia for TGFB1:
1KLA (3D)        1KLC (3D)        1KLD (3D)        3KFD (3D)    
Secondary accessions: A8K792 Q9UCG4

Explore the universe of human proteins at neXtProt for TGFB1: NX_P01137

Explore proteomics data for TGFB1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • UniProtKB: The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to mature TGF-beta-1
    rendering it inactive
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01137

  • TGFB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TGFB1 Protein Expression
    REFSEQ proteins: NP_000651.3  
    ENSEMBL proteins: 
     ENSP00000472767   ENSP00000221930  
    Reactome Protein details: P01137
    Human Recombinant Protein Products for TGFB1: 
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    R&D Systems Recombinant & Natural Proteins for TGFB1 (TGF-beta 1)
    Enzo Life Sciences proteins for TGFB1
    OriGene Purified Protein for TGFB1
    OriGene Protein Over-expression Lysate for TGFB1
    OriGene MassSpec for TGFB1 
    OriGene Custom Protein Services for TGFB1
    GenScript Custom Purified and Recombinant Proteins Services for TGFB1
    Novus Biologicals TGFB1 Proteins
    Novus Biologicals TGFB1 Lysates
    Sino Biological Recombinant Protein for TGFB1
    Sino Biological Cell Lysate for TGFB1 
    ProSpec Recombinant Protein for TGFB1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ISS--
    GO:0005615extracellular space IDA19734317
    GO:0005634nucleus IDA18040277
    GO:0005737cytoplasm IDA18040277

    TGFB1 for ontologies           About GeneDecksing



    TGFB1 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR001111 TGF-b_N
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS
     IPR015615 TGF-beta-rel
     IPR003939 TGFb1

    Graphical View of Domain Structure for InterPro Entry P01137

    ProtoNet protein and cluster: P01137

    5 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature
    IPB003911 Transforming growth factor beta precursor signature
    IPB003939 Transforming growth factor beta 1 precursor signature


    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Domain: The 'straitjacket' and 'arm' domains encircle the growth factor monomers and are fastened together by
    strong bonding between Lys-56 and Tyr-103/Tyr-104. Activation of TGF-beta1 requires the binding of integrin
    alpha-V to an RGD sequence in the prodomain and exertion of force on this domain, which is held in the
    extracellular matrix by latent TGF-beta binding proteins. The sheer physical force unfastens the straitjacket and
    releases the active growth factor dimer (By similarity)
    Similarity: Belongs to the TGF-beta family


    TGFB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGFB1_HUMAN, P01137
    Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell
    types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates
    many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of
    osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts
    Induction: Activated in vitro at pH below 3.5 and over 12.5

         Genatlas biochemistry entry for TGFB1:
    transforming growth factor,beta 1,152.6kDa,homodimerizing,expressed by
    fibroblast,platelet,monocyte,chondrocyte,osteoblasts,stimulating articular chondrocyte cell growth through MAPK3
    activation,including the latency associated peptide (LAP),involved in the growth inhibition suppression by the
    complex Rb/Bog,may be implicated in susceptibility to atherosclerosis,bone diseases or various forms of
    cancer,regarding the presence of particular alleles at the locus

         Summary:
    During embryonic development, TGFB1 as signaling molecule is secreted from the following cells: Early Ameloblasts in Dental Enamel, Extraembryonic Angioblasts in Extraembryonic Blood Islands (see all 8).

    It affects the following cells: Ameloblasts in Dental Enamel, Extraembryonic Mural Cells in Extraembryonic Mesoderm (see all 12).

    TGFB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Chondrocytes from Cartilage, Smooth muscle-like cells from Smooth Muscle (see all).

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005114type II transforming growth factor beta receptor binding IPI1333888
    GO:0005160transforming growth factor beta receptor binding ----
    GO:0005515protein binding IPI10092230
    GO:0008083growth factor activity IEA--
    GO:0019899enzyme binding IPI19366691
         
    TGFB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TGFB1:
     Decreased viability with pacli 

         15/22 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Tgfb1) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    TGFB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TGFB1: Tgfb1tm1Doe Tgfb1tm1N

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TGFB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TGFB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGFB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGFB1 

    miRNA
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    miRTarBase miRNAs that target TGFB1:
    hsa-mir-24 (MIRT005918)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFB1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFB1:
    hsa-miR-663 hsa-miR-3180-3p hsa-miR-1908 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmidTGFB1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for TGFB1
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    GenScript: all cDNA clones in your preferred vector: TGFB1 (NM_000660)
    Sino Biological Human cDNA Clone for TGFB1
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                         Customized lentivirus expression plasmids for stable overexpression of TGFB1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TGFB1 About   (see all 94)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway0.85
    ACE Inhibitor Pathway, Pharmacodynamics0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.85
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    4PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    Cytokine-cytokine receptor interaction0.43
    5Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for TGFB1
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Development TGF-beta receptor signaling
    Translation Regulation activity of EIF4F
    Cell adhesion Plasmin signaling

    5/6 R&D Systems Pathways for TGFB1 (see all 6)
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation
    TGF-beta Signaling Pathways

    5/69 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TGFB1 (see all 69)
        Telomerase Components in Cell Signaling
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    2 Cell Signaling Technology (CST) Pathways for TGFB1
        Angiogenesis
    TGF-beta/Smad Signaling

    5/6 GeneGo (Thomson Reuters) Pathways for TGFB1 (see all 6)
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Cell adhesion Plasmin signaling
    Cytokine production by Th17 cells in CF (Mouse model)
    Translation Regulation of EIF4F activity

    5/26 BioSystems Pathways for TGFB1 (see all 26)
        ACE Inhibitor Pathway
    MAPK signaling pathway
    Cytokines and Inflammatory Response
    MicroRNAs in cardiomyocyte hypertrophy
    Senescence and Autophagy

    1 Sino Biological Pathway for TGFB1 
        TGF-beta Signaling Pathway

    18/19        Reactome Pathways for TGFB1 (see all 19) (see first 5)
        TGF-beta receptor signaling activates SMADs
    Elastic fibre formation
    Response to elevated platelet cytosolic Ca2+
    Disease
    Host Interactions with Influenza Factors
    ECM proteoglycans
    Molecules associated with elastic fibres
    Extracellular matrix organization
    Platelet degranulation
    Signal Transduction
    Syndecan interactions
    TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
    Downregulation of TGF-beta receptor signaling
    Hemostasis
    Influenza Infection
    Influenza Virus Induced Apoptosis
    Signaling by TGF-beta Receptor Complex
    Platelet activation, signaling and aggregation

    3 PharmGKB Pathways for TGFB1
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    5/27         Kegg Pathways  (Kegg details for TGFB1) (see all 27):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    Cell cycle
    Endocytosis
    TGF-beta signaling pathway


    TGFB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGFB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/188 Interacting proteins for TGFB1 (P011371, 2, 3 ENSP000002219304) via UniProtKB, MINT, STRING, and/or I2D (see all 188)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371731, 2, 3, ENSP000003519054EBI-779636,EBI-296151 MINT-7990932 MINT-8044787 I2D: score=5 STRING: ENSP00000351905
    DIP2AQ146892, 3, ENSP000003920664MINT-7990981 MINT-7991013 I2D: score=1 STRING: ENSP00000392066
    APPP050671, 3, ENSP000002849814EBI-779636,EBI-77613 I2D: score=3 STRING: ENSP00000284981
    TGFBR3Q031671, 3, ENSP000002123554EBI-779636,EBI-2852679 I2D: score=3 STRING: ENSP00000212355
    DAXXQ9UER73, ENSP000003968764I2D: score=1 STRING: ENSP00000396876
    About this table

    Gene Ontology (GO): 5/161 biological process terms (GO ID links to tree view) (see all 161):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IDA--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000165MAPK cascade IMP--
    GO:0001657ureteric bud development IEA--
    GO:0001666response to hypoxia IEA--

    TGFB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TGFB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TGFB1

    1 DrugBank Compound for TGFB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HyaluronidaseHYAL-1 (see all 5)488712-31-8targetinhibitor9850732 11327694 7648625 9435505

    10/122 Novoseek inferred chemical compound relationships for TGFB1 gene (see all 122)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 96.8 3587 11882926 (15), 12174377 (12), 9628655 (11), 16686283 (11) (see all 99)
    vegf 72.2 717 18048965 (8), 19180561 (8), 20193458 (7), 17088559 (7) (see all 99)
    procollagen 68.8 92 7717995 (6), 11040229 (4), 9401768 (2), 1900574 (2) (see all 53)
    thymidine 62.4 128 10786820 (4), 10420148 (3), 8856846 (2), 11330966 (2) (see all 90)
    glycosaminoglycan 55.7 59 1613437 (4), 2120082 (4), 15133980 (3), 19840848 (3) (see all 25)
    tranilast 55 32 9622270 (4), 19282654 (3), 11082441 (2), 16284627 (2) (see all 13)
    il 10 54.5 41 20404426 (3), 15367225 (3), 12668154 (3), 16287542 (2) (see all 24)
    cycloheximide 53 63 11032362 (3), 1655396 (1), 9145908 (1), 9537840 (1) (see all 48)
    pd 98,059 50.3 53 19862801 (3), 16598650 (2), 16547158 (2), 18346908 (2) (see all 35)
    rantes 50.2 73 10336000 (9), 16564576 (7), 10925048 (3), 11931377 (3) (see all 41)

    Search CenterWatch for drugs/clinical trials and news about TGFB1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TGFB1 gene: 
    NM_000660.4  

    Unigene Cluster for TGFB1:

    Transforming growth factor, beta 1
    Hs.645227  [show with all ESTs]
    Unigene Representative Sequence: X02812
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598758 ENST00000221930(uc002oqh.2) ENST00000600196 ENST00000597453

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-663 hsa-miR-3180-3p hsa-miR-1908 hsa-miR-744
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    Inhib. RNA
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    OriGene clones in human, mouse for TGFB1 (see all 7)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1
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    Additional mRNA sequence: 

    AK291907.1 AK307742.1 AY820829.1 BC000125.1 BC001180.1 BC022242.1 BT007245.1 M38449.1 
    X02812.1 

    16 DOTS entries:

    DT.100797270  DT.95265833  DT.113054  DT.100833261  DT.95144033  DT.92410325  DT.92433717  DT.100031024 
    DT.100797272  DT.91811260  DT.99954228  DT.99961298  DT.92414144  DT.95265834  DT.100797271  DT.92466233 

    24/334 AceView cDNA sequences (see all 334):

    BM555996 BM469326 BM553137 AI656715 BI029228 AI089904 BM738551 T28993 
    AI954807 CA432581 CR601792 H13845 BQ675698 BU633535 CF132703 BU527422 
    BU625377 CA426391 BX349319 BQ222205 CA503085 BC022242 CD674839 BQ054305 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TGFB1 expression in normal human tissues (normalized intensities)      TGFB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGCTGTAT
    TGFB1 Expression
    About this image


    TGFB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 24 entries
             Hypertrophic Chondrocytes Lumbar Vertebrae
             Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 16 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Exocrine Progenitor Cells Dorsal Pancreatic Bud
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Regulatory T cells

    See TGFB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGFB1

    SOURCE GeneReport for Unigene cluster: Hs.645227

    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is
    increased in osteoarthritis (OA). Co-localizes with ASPN in chondrocytes within OA lesions of articular cartilage

        SABiosciences Expression via Pathway-Focused PCR Arrays including TGFB1 (see all 38): 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TGFB1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfb11 , 5 transforming growth factor, beta 11, 5 85.38(n)1
    90(a)1
      7 (13.98 cM)5
    218031  NM_011577.11  NP_035707.11 
     256870025 
    lizard
    (Anolis carolinensis)
    Reptilia TGFB16
    Uncharacterized protein
    50(a)
    1 ↔ 1
    LGf(3763499-3801964)
    zebrafish
    (Danio rerio)
    Actinopterygii tgfb1a1 transforming growth factor, beta 1a 55.4(n)
    47.96(a)
      359834  NM_182873.1  NP_878293.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta daw6
    dawdle
    14(a)
    1 → many
    2L(2805518-2812147)


    ENSEMBL Gene Tree for TGFB1 (if available)
    TreeFam Gene Tree for TGFB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGFB1 gene
    GDF112  MSTN2  INHBE2  TGFB22  INHBB2  TGFB32  INHBC2  INHBA2  
    9 SIMAP similar genes for TGFB1 using alignment to 8 protein entries:     TGFB1_HUMAN (see all proteins):
    DKFZp686A06204    BMP2    BMP6    BMP7    BMP8A    GDF8
    TGFB2    TGFB3    BMP3

    TGFB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Polymorphism: In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis
    than in controls


    10/765 SNPs in TGFB1 are shown (see all 765)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0176094
    Camurati-Engelmann disease (CE)4--see VAR_0176092 R H mis40--------
    VAR_0176084
    Camurati-Engelmann disease (CE)4--see VAR_0176082 R C mis40--------
    VAR_0176114
    Camurati-Engelmann disease (CE)4--see VAR_0176112 C R mis40--------
    VAR_0176074
    Camurati-Engelmann disease (CE)4--see VAR_0176072 Y H mis40--------
    VAR_0673044
    Camurati-Engelmann disease (CE)4--see VAR_0673042 C R mis40--------
    VAR_0673034
    Camurati-Engelmann disease (CE)4--see VAR_0673032 C G mis40--------
    VAR_0176104
    Camurati-Engelmann disease (CE)4--see VAR_0176102 H D mis40--------
    rs18004721,2,4
    C,F,Hnon-pathogenic142036126(-) GGCCAC/TCCCGC 2 T I mis1 ese329Minor allele frequency- T:0.02MN NA EU NS EA 15162
    rs72584451,2
    C,F,A,Hnon-pathogenic142043777(+) AAATTA/GGCCAG 1 -- int112Minor allele frequency- G:0.32NA EU WA CSA 110
    rs22417151,2
    C,F,A,Hnon-pathogenic142045148(-) GGTCCG/TGTTGC 1 -- int130Minor allele frequency- T:0.41EA NS NA WA CSA 4699

    HapMap Linkage Disequilibrium report for TGFB1 (41807492 - 41859831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TGFB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv911769CNV Loss21882294
    nsv521311CNV Gain19592680


    Human Gene Mutation Database (HGMD): TGFB1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TGFB1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 190180   
    OMIM disorders: 131300  219700  
    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
  • Camurati-Engelmann disease (CE) [MIM:131300]: Autosomal dominant disorder characterized by hyperostosis
    and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain,
    muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis,
    hearing difficulties and loss of vision. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/470 diseases for TGFB1 (see all 470):    About MalaCards
    camurati-engelmann disease    communicating hydrocephalus    kidney hypertrophy    dacryoadenitis
    cystic fibrosis lung disease, modifier of    hypertrophic scars    cftr-related disorders    peyronie's disease
    peyronies disease    spinal cord injury    diffuse scleroderma    oligoarticular juvenile arthritis
    macular corneal dystrophy    craniodiaphyseal dysplasia    keloids    scleroderma
    posterior urethral valves    posterior urethral valve    geleophysic dysplasia    esophagus squamous cell carcinoma

    20/38 diseases from the University of Copenhagen DISEASES database for TGFB1 (see all 38):
    Kidney disease     Pulmonary fibrosis     Ureteral disease     Hypersensitivity reaction type II disease
    Arthritis     Asthma     Breast cancer     Carcinoma
    Hereditary hemorrhagic telangiectasia     Eye disease     Diabetes mellitus     Hypertension
    Liver disease     Connective tissue disease     Pneumonia     Heart disease
    Prostate cancer     Colorectal cancer     Atherosclerosis     Camurati-Engelmann disease

    TGFB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/98 Novoseek inferred disease relationships for TGFB1 gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal fibrosis 78.6 59 19536084 (2), 15313011 (2), 19858036 (2), 18266088 (2) (see all 40)
    liver fibrosis 71.8 161 11412388 (6), 17456311 (5), 14642613 (5), 9727721 (5) (see all 75)
    camurati-engelmann disease 69.9 29 19654961 (2), 11810278 (2), 12493741 (2), 12843182 (1) (see all 15)
    necrosis 69.1 569 1587858 (2), 9633531 (2), 17622749 (2), 10417853 (2) (see all 99)
    scars hypertrophic 69.1 86 12560674 (5), 11955370 (5), 7963657 (4), 9682679 (4) (see all 34)
    diabetic nephropathies 67.6 106 16734145 (5), 12500218 (4), 8691733 (4), 17319955 (4) (see all 56)
    tumors 66.7 1477 12720300 (8), 9721065 (6), 18176914 (6), 11505481 (6) (see all 99)
    pulmonary fibrosis 66.3 67 11413354 (3), 18583319 (2), 8630262 (2), 9490651 (2) (see all 46)
    glomerulosclerosis 66.2 52 12417087 (3), 11728950 (2), 9052888 (2), 17494887 (2) (see all 40)
    keloid 66 134 11838050 (7), 12560674 (5), 12640331 (4), 11368663 (4) (see all 43)

    GeneTests: TGFB1
    GeneReviews: TGFB1
    Genetic Association Database (GAD): TGFB1
    Human Genome Epidemiology (HuGE) Navigator: TGFB1 (742 documents)
    Tumor Gene Database (TGDB): TGFB1

    Export disorders for TGFB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TGFB1 gene, integrated from 9 sources (see all 6180):
    (articles sorted by number of sources associating them with TGFB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (PubMed id 12843182)1, 2, 4, 9 McGowan N.W.... Helfrich M.H. (2003)
    2. A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. (PubMed id 12202987)1, 2, 4, 9 Watanabe Y.... Yoshiura K. (2002)
    3. Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women. (PubMed id 9783545)1, 2, 4, 9 Yamada Y.... Ikeda K. (1998)
    4. [Effect of polymorphism of transforming growth factor beta1 gene on HBV-induced liver cirrhosis] (PubMed id 16029542)1, 4, 9 Yang Z.X....Zhao W.J. (2005)
    5. Transforming growth factor beta-1 and gene polymorphisms in oriental ankylosing spondylitis. (PubMed id 15479754)1, 4, 9 Howe H.S....Leung B.P. (2005)
    6. TGF-beta1 genotype and phenotype in breast cancer and their associations with IGFs and patient survival. (PubMed id 18827819)1, 4, 9 Mu L....Yu H. (2008)
    7. Association between a TGFbeta1 promoter polymorphism and rhinosinusitis in aspirin-intolerant asthmatic patients. (PubMed id 16916603)1, 4, 9 Kim S.H....Park C.S. (2007)
    8. Serum levels and genetic variation of TGF-beta1 are not associated with Alzheimer's disease. (PubMed id 17986101)1, 4, 9 Rodriguez-Rodriguez E....Combarros O. (2007)
    9. [The relationship between the gene polymorphism of TGF-beta1 and early renal injury in patients with essential hypertension, and the effect of the gene polymorphism of TGF- beta1 on the individual treatment with valsartan] (PubMed id 17680535)1, 4, 9 Zhao C....Zhang Q.Y. (2007)
    10. TGFbeta1 haplotypes and asthma in Indian populations. (PubMed id 15753900)1, 4, 9 Nagpal K....Ghosh B. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7040 HGNC: 11766 AceView: TGFB1 Ensembl:ENSG00000105329 euGenes: HUgn7040
    ECgene: TGFB1 Kegg: 7040 H-InvDB: TGFB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TGFB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFB1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFB1
    Wikipedia http://en.wikipedia.org/wiki/TGF_beta_1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TGFB1 gene:
    Search GeneIP for patents involving TGFB1

    Licensable Technologies for TGFB1 gene:
     Tufts University:  Use of miRNAs to selectively modulate TGF-beta/BMP signaling to treat TGF-beta/BMP mediated disorders
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 28 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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