Aliases for POU1F1 Gene
External Ids for POU1F1 Gene
Previous HGNC Symbols for POU1F1 Gene
Previous GeneCards Identifiers for POU1F1 Gene
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for POU1F1 Gene
POU1F1 (POU Class 1 Homeobox 1) is a Protein Coding gene. Diseases associated with POU1F1 include pituitary hormone deficiency, combined, 1 and hypothyroidism due to deficient transcription factors involved in pituitary development or function. Among its related pathways are Glucocorticoid receptor regulatory network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is POU6F1.
UniProtKB/Swiss-Prot for POU1F1 Gene
Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5-TAAAT-3. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).