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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)
 Explore 514 diseases affiliated with
TGFB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TGFB1    

Aliases
for TGFB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transforming Growth Factor, Beta 11 2     TGF-Beta-11
TGFB1 2 3     LAP2
CED1 2 5     Latency-Associated Peptide2
DPD11 2 5     TGF-Beta 1 Protein2
TGFbeta1 2     Transforming Growth Factor Beta-12

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


Summaries
for TGFB1 gene

(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:
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)

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)


Genomic Views
for TGFB1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
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:
 41,836,812 bp from pter      End:
 41,859,831 bp from pter
Size:
 23,020 bases      Orientation:
 minus strand

Proteins
for TGFB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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). 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

Post-translational modifications:

  • Glycosylated1
  • The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to mature TGF-beta-1
    • rendering it inactive1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01137

    • TGFB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000651.3  
    ENSEMBL proteins: 
     ENSP00000221930  
    Reactome Protein details: P01137
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant TGFB1 Protein
    R&D Systems Recombinant & Natural Proteins for TGFB1 (TGF-beta 1)
    Enzo Life Sciences proteins for TGFB1
    OriGene Purified Protein: TGFB1
    OriGene Protein Over-expression Lysate: 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
    ProSpec Recombinant Protein for TGFB1
    Uscn Proteins for TGFB1

    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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    Uscn ELISAs and CLIAs for TGFB1

    Protein Domains /
    Families
    for TGFB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TGFB1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR016319 TGF-beta
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry P01137

    ProtoNet protein and cluster: P01137

    5 Blocks protein families:
    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


    Function
    for TGFB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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: Extraembryonic Angioblasts in Extraembryonic Blood Islands, Extravillous Cytotrophoblast Cells in Extravillous Cytotrophoblast Layer (see all 5).

    It affects the following cells: Epicardium-Derived Cells in Epicardium, Extraembryonic Mural Cells in Extraembryonic Mesoderm (see all 11).

    TGFB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Chondrocyte pellets, Pigmented epithelium cell clusters (see all 9).

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    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 plasmid: TGFB1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFB1 (see all 7)
    OriGene shRNA RFP: TGFB1
    OriGene siRNA: TGFB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFB1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TGFB1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TGFB1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TGFB1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TGFB1 (NM_000660)
    Sino Biological Human cDNA Clone for TGFB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1 

    Cell Line
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    Search LifeMap BioReagents cell lines for TGFB1

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

    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:0005515protein binding IPI1326540
    GO:0008083growth factor activity IEA--
    GO:0019899enzyme binding IPI19366691
    GO:0042803protein homodimerization activity IEA--


    TGFB1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TGFB1:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-outs for TGFB1: Tgfb1tm1Doe Tgfb1tm1N
         15/22 MGI mutant phenotypes (inferred from 8 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


    Pathways & Interactions
    for TGFB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/86 super-pathways (see all 86) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/14 pathways (see all 14)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		ERK5 Signaling0.61
    		p53 Mediated Apoptosis0.84
    		eIF2 Pathway0.60
    		Mitochondrial Apoptosis0.73
    		Rac1 Pathway0.58
    		Telomerase Components in Cell Signaling0.72
    		Nuclear Receptor Activation by Vitamin-A0.57
    2GPCR Pathway
    		GPCR Pathway1.00
    		Estrogen Pathway0.55
    		Ras Pathway0.62
    		Pancreatic Adenocarcinoma0.55
    		Breast Cancer Regulation by Stathmin10.58
    		Paxillin Interactions0.53
    		NFAT in Immune Response0.58
    3Th17 Differentiation
    		Th17 Differentiation1.00
    		IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types0.47
    4Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    5TGF-Beta Pathway
    		TGF-Beta Pathway1.00
    		JAK-STAT Pathway0.57
    		MAPK Family Pathway0.60
    		JNK Pathway0.50

    Pathway sources
    See GeneCards unified pathways
    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

    5/25 BioSystems Pathways for TGFB1 (see all 25) 
        MAPK signaling pathway
    Cell cycle
    MicroRNAs in cardiomyocyte hypertrophy
    Cytokines and Inflammatory Response
    DNA damage response (only ATM dependent)

    5/18        Reactome Pathways for TGFB1 (see all 18)
        TGF-beta receptor signaling activates SMADs
    Elastic fibre formation
    Response to elevated platelet cytosolic Ca2+
    Disease
    Host Interactions with Influenza Factors

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

    5/21         Kegg Pathways  (Kegg details for TGFB1) (see all 21):
        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)

    5/183 Interacting proteins for TGFB1 (P011371, 2, 3 ENSP000002219304) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    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
    FSTL1Q128412, 3, ENSP000002956334MINT-7990941 MINT-7990813 I2D: score=1 STRING: ENSP00000295633
    About this table

    Gene Ontology (GO): 5/158 biological process terms (GO ID links to tree view) (see all 158):    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



    Drugs & Compounds
    for TGFB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for TGFB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000221930(uc002oqh.2)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: TGFB1
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    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 plasmid: TGFB1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFB1 (see all 7)
    OriGene shRNA RFP: TGFB1
    OriGene siRNA: TGFB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFB1
    Clone
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    GenScript: all cDNA clones in your preferred vector: TGFB1 (NM_000660)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TGFB1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TGFB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFB1

    Additional cDNA 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):

    BC022242 BQ021537 CA426391 BG978088 CA309731 BE312000 AI656715 BF223609 
    BI029229 BQ003136 BX349319 D58870 BI818841 CK904267 BU625377 T28993 
    BQ054305 AI369716 BM670402 BU632941 BM469326 BM699725 BQ576225 BU633535 

    GeneLoc Exon Structure


    Expression
    for TGFB1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGGCTGTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TGFB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/40 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 40) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod PerichondriumEndochondral PreosteoblastsBone
    BoneCervical VertebraeEndochondral PreosteoblastsBone
    BoneCervical VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneFacial SuturesFacial Fusing Suture CellsBone
    BoneLumbar VertebraeEndochondral PreosteoblastsBone
    BoneLumbar VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneRostral SuturesRostral Fusing Suture CellsBone
    BoneSacral VertebraeEndochondral PreosteoblastsBone
    BoneSacral VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneStylopod PerichondriumEndochondral PreosteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
    Definitive endoderm-like cells (A scalable, suspensi...)

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TGFB1
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFB1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1

    Orthologs
    for TGFB1 gene

    (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 chordates.

    Orthologs for TGFB1 gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia TGFB16
    		 --
    		 84(a)
    		 1 ↔ 1
    		 LGf(3766143-3767315)
    zebrafish
    (Danio rerio)    		 Actinopterygii tgfb1a1 transforming growth factor, beta 1a 55.4(n)
    47.96(a)    		   359834  NM_182873.1  NP_878293.1 


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

    Paralogs
    for TGFB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGFB1 gene
    GDF112  MSTN2  INHBE2  INHBB2  TGFB22  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



    Genomic Variants
    for TGFB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/624 NCBI SNPs in TGFB1 are shown (see all 624)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048947191,2
    		Cpathogenic41848114(-) GCTCCC/TGTGAC 2 R C mis10--------
    rs1048947221,2
    		Cpathogenic41848120(-) CCCACC/G/TGCTCC 3 R G C mis10--------
    rs1048947211,2
    		Cpathogenic41848135(-) GCTTTC/TGCCTT 2 R C mis10--------
    rs1872291991,2
    		--41836335(+) GGTCTC/TACTAT 1 -- ds50010--------
    rs1916871961,2
    		--41836374(+) ATTCAA/TGTAAT 1 -- ds50010--------
    rs1452978141,2
    		C,--41836692(+) TGCCTC/TGATGC 1 -- ds50010--------
    rs1999820591,2
    		--41837123(+) GCGGGC/TGGCGG 1 -- int10--------
    rs1838786181,2
    		--41837192(+) CCCACA/CCGCTA 1 -- int10--------
    rs1140762451,2
    		F,--41837378(+) TCATGG/CCTCGC 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1879268031,2
    		--41837441(+) TAGCTC/TCAACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TGFB1 (41836812 - 41859831 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TGFB1: --
    Human Gene Mutation Database (HGMD): TGFB1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TGFB1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFB1

    Disorders / Diseases
    for TGFB1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TGFB1 for disorders           About GeneDecksing

    OMIM gene information: 190180   
    OMIM disorders: 131300  219700  
    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
  • Defects in TGFB1 are the cause of Camurati-Engelmann disease (CE) [MIM:131300]; also known as progressive
    • diaphyseal dysplasia 1 (DPD1). CE is an 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

    20/514 diseases for TGFB1 (see all 514):    About MalaCards
    camurati-engelmann disease    ossification of posterior longitudinal ligament of spine    spinal-bulbar muscular atrophy    chronic active epstein-barr virus infection
    congenital bilateral absence of vas deferens    open-angle glaucoma    spinal stenosis    alpha 1-antitrypsin deficiency
    communicating hydrocephalus    denys-drash syndrome    spinal cord injury    adult-onset still's disease
    normal pressure hydrocephalus    epidermolysis bullosa acquisita    cystic fibrosis lung disease, modifier of    eosinophilia-myalgia syndrome
    extrinsic allergic alveolitis    middle ear cholesteatoma    mitral valve prolapse    lattice corneal dystrophy

    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     Breast cancer     Asthma     Carcinoma
    Diabetes mellitus     Liver disease     Eye disease     Hypertension
    Hereditary hemorrhagic telangiectasia     Connective tissue disease     Pneumonia     Heart disease
    Prostate cancer     Camurati-Engelmann disease     Colorectal cancer     Atherosclerosis

    10/98 Novoseek 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
    Camurati-Engelmann Disease

    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

    Publications
    for TGFB1 gene

    (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 6025):
    (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. Analysis of TGF-beta(1) gene polymorphisms in Hong Kong Chinese patients with asthma. (PubMed id 16387590)1, 4, 9 Mak J.C....Chan-Yeung M.M. (2006)
    6. Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis. (PubMed id 15841043)1, 4, 9 Bendicho M.T....Lemaire D.C. (2005)
    7. Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma. (PubMed id 14597484)1, 4, 9 Silverman E.S....Shore S.A. (2004)
    8. Genetic polymorphisms in the TGF-beta 1 gene and breast cancer survival: a report from the Shanghai Breast Cancer Study. (PubMed id 14871809)1, 4, 9 Shu X.O....Zheng W. (2004)
    9. Association of polymorphisms of the transforming growth factor-beta1 gene with the rate of progression of HCV-induced liver fibrosis. (PubMed id 11750277)1, 4, 9 Gewaltig J....Gressner A.M. (2002)
    10. Interleukin-6 and interferon-gamma gene polymorphisms in the development of bronchiolitis obliterans syndrome after lung transplantation. (PubMed id 12451269)1, 4, 9 Lu K.C....Mohanakumar T. (2002)

    External Searches for TGFB1 gene

    (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)

    Genome Databases showing TGFB1 gene

    (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

    Other Databases showing TGFB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TGFB1 gene

    (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

    Intellectual Property
    for TGFB1 gene

    (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-?/BMP signaling to treat TGF-?/BMP mediated disorders
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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