POU1F1 gene

POU class 1 homeobox 1

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

From NCBI 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]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Pituitary hormone deficiency, combined, 1

From UniProt:

Pituitary hormone deficiency, combined, 1 (CPHD1): Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature. [MIM:613038]

Cytogenetic Location: 3p11.2, which is the short (p) arm of chromosome 3 at position 11.2

Molecular Location: base pairs 87,259,404 to 87,276,584 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 3p11.2, which is the short (p) arm of chromosome 3 at position 11.2
  • CPHD1
  • GHF-1
  • Pit-1
  • PIT1
  • POU1F1a