TGFB1

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]

Description

Transforming growth factor beta 1

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Cytosol

Predicted location

Secreted to blood

Protein family

Human disease related genes
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (41301587 - 41353922)

Ensembl ID

ENSG00000105329  (ver. 103.38)

Orthologs

Mouse Tgfb1: ENSMUSG00000002603

UniProt

 

neXtProt

 

Human splice variants
Mouse splice variants

Protein structure