POU1F1: POU Class 1 Homeobox 1
Pituitary-specific transcription factor; key regulator of growth hormone, prolactin, and TSH beta
Gene Information Card
| Symbol | POU1F1 |
|---|---|
| Full Name | POU class 1 homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p11.2 |
| NCBI Gene ID | 5449 ncbi.nlm.nih.gov/gene/5449 |
| Ensembl ID | ENSG00000179195 |
| UniProt ID | P28069 |
| OMIM ID | 173110 |
| HGNC ID | 9210 |
| Aliases | Pit-1, GHF-1, POU1F1a, POU1F1b |
Description
POU1F1 (POU class 1 homeobox 1) encodes a pituitary-specific transcription factor that binds to and activates promoters of growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone beta (TSHB) genes. It is essential for pituitary cell differentiation and hormone production. Mutations in POU1F1 cause combined pituitary hormone deficiency (CPHD) with deficiencies of GH, PRL, and TSH.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined pituitary hormone deficiency (CPHD) | Loss-of-function mutations in POU1F1 impair transactivation of GH, PRL, and TSHB promoters, leading to hormone deficiencies. | ClinVar, OMIM #173110 |
| Pituitary dwarfism | Deficient GH production due to POU1F1 mutations results in short stature. | OMIM #262600 |
| Hypothyroidism (central) | TSH deficiency secondary to POU1F1 mutation causes central hypothyroidism. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary gland | 27.8 | High |
| Brain (cerebellum) | 0.2 | Low |
| Thyroid | 0.1 | Not detected |
| Adrenal gland | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| Pituitary (primary) | High | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Cys) | Missense | Rare | Loss of DNA-binding activity; CPHD |
| c.811C>T (p.Arg271Trp) | Missense | Rare | Dominant-negative effect; CPHD |
| c.1085G>A (p.Arg362Gln) | Missense | Rare | Impaired transactivation; CPHD |
| c.150+1G>A | Splice site | Rare | Exon skipping; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most POU1F1 mutations (e.g., p.Arg72Cys) reduce or abolish DNA binding and transcriptional activation, leading to recessive CPHD.
Gain of Function (GOF)
Not described for POU1F1.
Dominant Negative (DN)
p.Arg271Trp acts as a dominant-negative mutant, interfering with wild-type POU1F1 function and causing autosomal dominant CPHD.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pituitary hormone synthesis and secretion
• Transcriptional regulation of pituitary development
Protein Summary
POU1F1 (Pit-1) is a 291-amino acid transcription factor containing a POU-specific domain and a POU homeodomain, which mediate sequence-specific DNA binding. It is expressed exclusively in the anterior pituitary and regulates the expression of GH, PRL, and TSHB. The protein also plays a role in pituitary cell proliferation and differentiation. Mutations disrupt its function, leading to combined pituitary hormone deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU1F1 Knockout HEK293 Cell Line | EDJ-KQ1946 | Human | 5449 | Details Get a Quote |
| POU1F1 Knockout HeLa Cell Line | EDJ-KQ54176 | Human | 5449 | Details Get a Quote |
| POU1F1 Knockout A-549 Cell Line | EDJ-KQ62671 | Human | 5449 | Details Get a Quote |
| POU1F1 Knockout HCT 116 Cell Line | EDJ-KQ71139 | Human | 5449 | Details Get a Quote |
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