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Aliases for TGFB1 Gene

Aliases for TGFB1 Gene

  • Transforming Growth Factor, Beta 1 2 3
  • Prepro-Transforming Growth Factor Beta-1 2 3
  • TGF-Beta-1 3 4
  • TGFB 3 4
  • DPD1 3 6
  • CED 3 6
  • Transforming Growth Factor Beta-1 3
  • Camurati-Engelmann Disease 2
  • Latency-Associated Peptide 3
  • TGFbeta 3
  • LAP 3

External Ids for TGFB1 Gene

Previous HGNC Symbols for TGFB1 Gene

  • TGFB
  • DPD1

Previous GeneCards Identifiers for TGFB1 Gene

  • GC19M042475
  • GC19M042227
  • GC19M046484
  • GC19M046528
  • GC19M041837
  • GC19M038268

Summaries for TGFB1 Gene

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 kidney hypertrophy. Among its related pathways are MAPK signaling pathway and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is INHBB.

UniProtKB/Swiss-Prot for TGFB1 Gene

  • 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. Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner. At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development. At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells.

Gene Wiki entry for TGFB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFB1 Gene

Genomics for TGFB1 Gene

Regulatory Elements for TGFB1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TGFB1 Gene

Start:
41,301,587 bp from pter
End:
41,353,933 bp from pter
Size:
52,347 bases
Orientation:
Minus strand

Genomic View for TGFB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFB1 Gene

Proteins for TGFB1 Gene

  • Protein details for TGFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01137-TGFB1_HUMAN
    Recommended name:
    Transforming growth factor beta-1
    Protein Accession:
    P01137
    Secondary Accessions:
    • A8K792
    • Q9UCG4

    Protein attributes for TGFB1 Gene

    Size:
    390 amino acids
    Molecular mass:
    44341 Da
    Quaternary structure:
    • 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 thesmall 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.

    Three dimensional structures from OCA and Proteopedia for TGFB1 Gene

neXtProt entry for TGFB1 Gene

Proteomics data for TGFB1 Gene at MOPED

Post-translational modifications for TGFB1 Gene

  • Glycosylated.
  • The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to mature TGF-beta-1 rendering it inactive
  • Ubiquitination at Lys291
  • Glycosylation at Asn82, Asn136, and Asn176
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TGFB1 (TGFB1)

Protein Products

Assay Products

  • Enzo Life Sciences assays for TGFB1

No data available for DME Specific Peptides for TGFB1 Gene

Domains for TGFB1 Gene

Gene Families for TGFB1 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P01137

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).
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with TGFB1: view

Function for TGFB1 Gene

Molecular function for TGFB1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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. Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner. At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development. At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells.
UniProtKB/Swiss-Prot Induction:
Activated in vitro at pH below 3.5 and over 12.5

LifeMap Function Summary for TGFB1 Gene

Gene Ontology (GO) - Molecular Function for TGFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 15247411
GO:0003823 antigen binding IPI 16754747
GO:0005114 type II transforming growth factor beta receptor binding IPI 1333888
GO:0005125 cytokine activity TAS 24263861
GO:0005515 protein binding IPI 10092230
genes like me logo Genes that share ontologies with TGFB1: view
genes like me logo Genes that share phenotypes with TGFB1: view

Animal Models for TGFB1 Gene

MGI Knock Outs for TGFB1:

Animal Model Products

miRNA for TGFB1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGFB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TGFB1 Gene

Localization for TGFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFB1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGFB1 Gene COMPARTMENTS Subcellular localization image for TGFB1 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 4
cytoskeleton 3
plasma membrane 3
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
peroxisome 2
endosome 1

Gene Ontology (GO) - Cellular Components for TGFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix ISS --
GO:0005615 extracellular space IDA 19734317
GO:0005634 nucleus IDA 18040277
GO:0005737 cytoplasm IDA 18040277
genes like me logo Genes that share ontologies with TGFB1: view

Pathways for TGFB1 Gene

SuperPathways for TGFB1 Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 Loss of Function of SMAD2/3 in Cancer
3 GPCR Pathway
4 ERK Signaling
5 CREB Pathway
genes like me logo Genes that share pathways with TGFB1: view

Pathways by source for TGFB1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for TGFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation IDA 21390327
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000165 MAPK cascade IMP 21147091
GO:0001657 ureteric bud development IEA --
GO:0001666 response to hypoxia IEA --
genes like me logo Genes that share ontologies with TGFB1: view

Compounds for TGFB1 Gene

(1) Drugbank Compounds for TGFB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Hyaluronidase
  • HYAL-1
488712-31-8 target inhibitor

(122) Novoseek inferred chemical compound relationships for TGFB1 Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 96.8 798
vegf 72.2 352
procollagen 68.8 65
thymidine 62.4 106
glycosaminoglycan 55.7 40

(1) PharmGKB related drug/compound annotations for TGFB1 Gene

Drug/compound Annotation
rituximab CA
genes like me logo Genes that share compounds with TGFB1: view

Transcripts for TGFB1 Gene

Unigene Clusters for TGFB1 Gene

Transforming growth factor, beta 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGFB1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGFB1 Gene

No ASD Table

Relevant External Links for TGFB1 Gene

GeneLoc Exon Structure for
TGFB1
ECgene alternative splicing isoforms for
TGFB1

Expression for TGFB1 Gene

mRNA expression in normal human tissues for TGFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGFB1 Gene

This gene is overexpressed in Whole Blood (13.1).

Protein differential expression in normal tissues for TGFB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.8) and Platelet (23.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGFB1 Gene

SOURCE GeneReport for Unigene cluster for TGFB1 Gene Hs.645227

mRNA Expression by UniProt/SwissProt for TGFB1 Gene

P01137-TGFB1_HUMAN
Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is increased in osteoarthritis (OA). Colocalizes with ASPN in chondrocytes within OA lesions of articular cartilage.
genes like me logo Genes that share expressions with TGFB1: view

Expression partners for TGFB1 Gene

In Situ Assay Products

Orthologs for TGFB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TGFB1 35
  • 90.37 (n)
  • 94.82 (a)
TGFB1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFB1 35
  • 92.56 (n)
  • 94.36 (a)
mouse
(Mus musculus)
Mammalia Tgfb1 35
  • 85.38 (n)
  • 89.65 (a)
Tgfb1 16
Tgfb1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TGFB1 35
  • 99.83 (n)
  • 100 (a)
TGFB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfb1 35
  • 85.83 (n)
  • 89.92 (a)
oppossum
(Monodelphis domestica)
Mammalia TGFB1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 42 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TGFB1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfb1 35
  • 53.18 (n)
  • 51 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC563884 35
  • 53.16 (n)
  • 48.52 (a)
tgfb1a 36
  • 44 (a)
OneToMany
tgfb1b 36
  • 42 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6056 35
fruit fly
(Drosophila melanogaster)
Insecta daw 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for TGFB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGFB1 Gene

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

Paralogs for TGFB1 Gene

Paralogs for TGFB1 Gene

genes like me logo Genes that share paralogs with TGFB1: view

Variants for TGFB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TGFB1 Gene

P01137-TGFB1_HUMAN
In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis than in controls

Sequence variations from dbSNP and Humsavar for TGFB1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs747857 -- 41,331,842(-) AAAAA(C/T)GCAGA intron-variant
rs1549934 -- 41,344,053(-) gtgag(C/T)cataa intron-variant
rs1799753 -- 41,353,805(-) CCCCC(-/C)GGCTC utr-variant-5-prime
rs1800470 other, - 41,353,016(-) gctgc(C/T)gctgc reference, missense
rs1800471 Benign, - 41,352,971(-) TGGCC(C/G)GCCGG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for TGFB1 Gene

Variant ID Type Subtype PubMed ID
nsv911769 CNV Loss 21882294
nsv521311 CNV Gain 19592680

Relevant External Links for TGFB1 Gene

HapMap Linkage Disequilibrium report
TGFB1
Human Gene Mutation Database (HGMD)
TGFB1

Disorders for TGFB1 Gene

(2) OMIM Diseases for TGFB1 Gene (190180)

UniProtKB/Swiss-Prot

TGFB1_HUMAN
  • Camurati-Engelmann disease (CAEND) [MIM:131300]: 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. {ECO:0000269 PubMed:10973241, ECO:0000269 PubMed:11062463, ECO:0000269 PubMed:15103729}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(98) Novoseek inferred disease relationships for TGFB1 Gene

Disease -log(P) Hits PubMed IDs
renal fibrosis 78.6 46
liver fibrosis 71.8 122
camurati-engelmann disease 69.9 18
necrosis 69.1 115
scars hypertrophic 69.1 70

Relevant External Links for TGFB1

GeneTests
TGFB1
GeneReviews
TGFB1
Genetic Association Database (GAD)
TGFB1
Human Genome Epidemiology (HuGE) Navigator
TGFB1
Tumor Gene Database (TGDB):
TGFB1
genes like me logo Genes that share disorders with TGFB1: view

No data available for Genatlas for TGFB1 Gene

Publications for TGFB1 Gene

  1. Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women. (PMID: 9783545) Yamada Y. … Ikeda K. (J. Bone Miner. Res. 1998) 3 4 23 48
  2. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (PMID: 12843182) McGowan N.W. … Helfrich M.H. (J. Clin. Endocrinol. Metab. 2003) 3 4 23 48
  3. Association of transforming growth factor-beta1 gene polymorphisms with a hepatocellular carcinoma risk in patients with chronic hepatitis B virus infection. (PMID: 12858019) Kim Y.J. … Shin H.D. (Exp. Mol. Med. 2003) 3 23 48
  4. Transforming growth factor beta1 gene polymorphism in patients with systemic sclerosis. (PMID: 12858451) Sugiura Y. … Ueda R. (J. Rheumatol. 2003) 3 23 48
  5. Transforming growth factor beta1 genotype polymorphisms determine AV fistula patency in hemodialysis patients. (PMID: 12911563) Heine G.H. … Girndt M. (Kidney Int. 2003) 3 23 48

Products for TGFB1 Gene

  • Addgene plasmids for TGFB1

Sources for TGFB1 Gene

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