Official symbol | TGFB1 |
Gene id | 7040 |
Organism | Homo sapiens |
Official full symbol | transforming growth factor beta 1 |
Gene type | protein-coding |
Also known as | CED, DPD1, IBDIMDE, LAP, TGF-beta1, TGFB, TGFbeta |
Summary | 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. |
Genomic regions | Chromosome 19 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
TGFB1-201 | ENST00000221930.6 | 2780 | 390aa | Protein coding | CCDS33031 | A0A499FJK2 | NM_000660.7 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
TGFB1-204 | ENST00000600196.2 | 1250 | 370aa | Protein coding | - | - | - | TSL:5, GENCODE basic, |
TGFB1-205 | ENST00000677934.1 | 1084 | 306aa | Protein coding | - | - | - | GENCODE basic, |
TGFB1-203 | ENST00000598758.5 | 559 | No protein | Processed transcript | - | - | - | TSL:5, |
TGFB1-202 | ENST00000597453.1 | 392 | No protein | Retained intron | - | - | - | TSL:1, |
Target Gene | TGFB1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene TGFB1 had been KO in hela cell line. |
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