Version: 8.0.0Date: Tue Jan 28 2025
Gene
TGFB1
- Species
- Homo sapiens
- Symbol
- TGFB1
- Name
- transforming growth factor beta 1
- Synonyms
- CED
- DPD1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including enzyme activator activity; receptor ligand activity; and transforming growth factor beta receptor binding activity. Involved in several processes, including positive regulation of signal transduction; regulation of cell migration; and regulation of macromolecule biosynthetic process. Acts upstream of or within negative regulation of gene expression and positive regulation of isotype switching to IgA isotypes. Located in several cellular components, including cell surface; extracellular space; and microvillus. Implicated in several diseases, including Behcet's disease; artery disease (multiple); bone disease (multiple); carcinoma (multiple); and lung disease (multiple). Biomarker of several diseases, including artery disease (multiple); autoimmune disease (multiple); hematologic cancer (multiple); lung disease (multiple); and pancreatic cancer (multiple).
- RGD Description
- This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11848
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr19:41301587...41353922 - (52.34 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.