POU1F1
Chr 3ADARPOU class 1 homeobox 1
Also known as: CPHD1, GHF-1, PIT1, POU1F1a, Pit-1
The protein is a transcription factor that specifies lactotrope, somatotrope, and thyrotrope cell types in the developing anterior pituitary by binding to specific DNA sequences and activating growth hormone and prolactin genes. Mutations cause combined pituitary hormone deficiency, typically presenting in infancy or early childhood with growth failure and multiple hormone deficiencies affecting the growth hormone, prolactin, and thyroid-stimulating hormone axes. Inheritance can be either autosomal dominant or autosomal recessive.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POU1F1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools