TEAD1 gene

TEA domain transcription factor 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]

From UniProt:

Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif.

From NCBI Gene:

  • Sveinsson chorioretinal atrophy

From UniProt:

Sveinsson chorioretinal atrophy (SCRA): Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid. [MIM:108985]

Cytogenetic Location: 11p15.3, which is the short (p) arm of chromosome 11 at position 15.3

Molecular Location: base pairs 12,674,421 to 12,944,737 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 11p15.3, which is the short (p) arm of chromosome 11 at position 15.3
  • AA
  • NTEF-1
  • REF1
  • TCF-13
  • TCF13
  • TEAD-1
  • TEF-1