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Aliases for TGFB1 Gene

Aliases for TGFB1 Gene

  • Transforming Growth Factor Beta 1 2 3 5
  • Prepro-Transforming Growth Factor Beta-1 2 3
  • TGF-Beta-1 3 4
  • TGFB 3 4
  • Transforming Growth Factor, Beta 1 2
  • Camurati-Engelmann Disease 2
  • Latency-Associated Peptide 3
  • TGFbeta 3
  • DPD1 3
  • LAP 3
  • CED 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 cystic fibrosis. Among its related pathways are Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. 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. Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292).

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

Promoters for TGFB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TGFB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TGFB1 Gene

Chromosome:
19
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

Genes around TGFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 291
  • Glycosylation at Asn 82, Asn 136, and Asn 176
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Protein Products

No data available for DME Specific Peptides for TGFB1 Gene

Domains & Families for TGFB1 Gene

Gene Families for TGFB1 Gene

Graphical View of Domain Structure for InterPro Entry

P01137

UniProtKB/Swiss-Prot:

TGFB1_HUMAN :
  • 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).
  • Belongs to the TGF-beta family.
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. Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292).
UniProtKB/Swiss-Prot Induction:
Activated in vitro at pH below 3.5 and over 12.5.

LifeMap Function Summary for TGFB1 Gene

TGFB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
genes like me logo Genes that share phenotypes with TGFB1: view

Human Phenotype Ontology for TGFB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFB1 Gene

MGI Knock Outs for TGFB1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
nucleus 5
plasma membrane 5
cytoskeleton 3
cytosol 3
endoplasmic reticulum 2
endosome 2
lysosome 2
mitochondrion 2
peroxisome 2
vacuole 2

No data available for Gene Ontology (GO) - Cellular Components for TGFB1 Gene

Pathways & Interactions for TGFB1 Gene

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

Pathways by source for TGFB1 Gene

SIGNOR curated interactions for TGFB1 Gene

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:0001763 morphogenesis of a branching structure IEA --
genes like me logo Genes that share ontologies with TGFB1: view

Drugs & Compounds for TGFB1 Gene

(76) Drugs for TGFB1 Gene - From: Novoseek, DrugBank, PharmGKB, DGIdb, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronidase Approved, Investigational Pharma Target, inhibitor 0
rituximab Approved Pharma Therapeutic Antibodies 1582
Adjuvants, Immunologic Pharma 1783
Anti-Inflammatory Agents Pharma 8478
Contraceptives, Oral Pharma 3734

(56) Additional Compounds for TGFB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA 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 (x13.1).

Protein differential expression in normal tissues from HIPED for TGFB1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TGFB1: view

Protein tissue co-expression partners for TGFB1 Gene

- Elite partner

Primer Products

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
rs1800470 - 41,353,016(-) gctgc(C/G/T)gctgc reference, missense
rs1800471 - 41,352,971(-) TGGCC(C/G)GCCGG reference, missense
rs1800472 - 41,341,955(-) GGCCA(C/T)CCCGC reference, missense
VAR_017607 Camurati-Engelmann disease (CAEND)
VAR_017608 Camurati-Engelmann disease (CAEND)

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

Variation tolerance for TGFB1 Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGFB1 Gene

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

Disorders for TGFB1 Gene

MalaCards: The human disease database

(161) MalaCards diseases for TGFB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
camurati-engelmann disease
  • diaphyseal dysplasia
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
renal fibrosis
ureteral obstruction
hypertrophic scars
  • scars hypertrophic
- elite association - COSMIC cancer census association via MalaCards
Search TGFB1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TGFB1

Genetic Association Database (GAD)
TGFB1
Human Genome Epidemiology (HuGE) Navigator
TGFB1
Tumor Gene Database (TGDB):
TGFB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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. (PMID: 12202987) Watanabe Y. … Yoshiura K. (J. Hum. Genet. 2002) 3 4 48 67
  2. Functional polymorphisms in transforming growth factor-beta-1 (TGFbeta-1) and vascular endothelial growth factor (VEGF) genes modify risk of renal parenchymal scarring following childhood urinary tract infection. (PMID: 19861314) Hussein A. … Schaefer F. (Nephrol. Dial. Transplant. 2010) 3 23
  3. Hyaluronic acid modulates gene expression of connective tissue growth factor (CTGF), transforming growth factor-beta1 (TGF-beta1), and vascular endothelial growth factor (VEGF) in human fibroblast-like synovial cells from advanced-stage osteoarthritis in vitro. (PMID: 19890996) Lee Y.T. … Young T.H. (J. Orthop. Res. 2010) 3 23
  4. Association of TGFbeta1 polymorphisms involved in radiation toxicity with TGFbeta1 secretion in vitro. (PMID: 20144876) Kim d.e. .R. … Hubert T. (Cytokine 2010) 3 23
  5. All-trans-retinoic acid promotes trafficking of human concentrative nucleoside transporter-3 (hCNT3) to the plasma membrane by a TGF-beta1-mediated mechanism. (PMID: 20172853) FernA!ndez-Calotti P. … Pastor-Anglada M. (J. Biol. Chem. 2010) 3 23

Products for TGFB1 Gene

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