FOXE1

This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4.

Full Name

Forkhead Box E1

Function

Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.

Biological Process

Anatomical structure morphogenesis Source: GO_Central
Cell differentiation Source: GO_Central
Cell migration Source: UniProtKB
Cranial skeletal system development Source: Ensembl
Embryonic organ morphogenesis Source: UniProtKB
Hair follicle morphogenesis Source: UniProtKB
Hard palate development Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Pharynx development Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: UniProtKB
Soft palate development Source: UniProtKB
Thymus development Source: UniProtKB
Thyroid gland development Source: UniProtKB
Thyroid hormone generation Source: UniProtKB

Cellular Location

Nucleus

Involvement in disease

Bamforth-Lazarus syndrome (BLS):
A disease characterized by thyroid agenesis, cleft palate and choanal atresia.
Thyroid cancer, non-medullary, 4 (NMTC4):
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.

PTM

Phosphorylated.