PROP1: Paired-Like Homeodomain Transcription Factor 1
Key regulator of pituitary gland development and hormone production
Gene Information Card
| Symbol | PROP1 |
|---|---|
| Full Name | PROP paired-like homeobox 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 5626 ncbi.nlm.nih.gov/gene/5626 |
| Ensembl ID | ENSG00000175329 |
| UniProt ID | O75360 |
| OMIM ID | 601538 |
| HGNC ID | 9455 |
| Aliases | CPHD2, PROP-1, Pit-1 paired homeodomain transcription factor |
Description
PROP1 (PROP paired-like homeobox 1) encodes a homeodomain transcription factor essential for the development of the anterior pituitary gland. It regulates the expression of POU1F1 (PIT1) and is required for the differentiation of somatotrophs, lactotrophs, and thyrotrophs. Mutations in PROP1 are a common cause of combined pituitary hormone deficiency (CPHD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Pituitary Hormone Deficiency 2 (CPHD2) | Loss-of-function mutations impair PROP1 DNA binding, disrupting POU1F1 activation and pituitary cell differentiation | OMIM #262600; multiple reports in ClinVar |
| Pituitary Stalk Interruption Syndrome (PSIS) | Rare PROP1 variants may contribute to pituitary stalk agenesis | Case reports in NCBI PubMed |
| Isolated Growth Hormone Deficiency (IGHD) | Some PROP1 mutations present with isolated GH deficiency before evolving to CPHD | Clinical evidence in OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary Gland | 0.0 (fetal) | Not detected in adult; transient fetal expression |
| Brain (cerebellum) | 0.0 | Not expressed |
| Testis | 0.0 | Not expressed |
| Thyroid | 0.0 | Not expressed |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | No detectable expression |
| K562 | 0.0 | No detectable expression |
| HepG2 | 0.0 | No detectable expression |
| hESC-derived pituitary cells | Variable | Transient expression during differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301_302delAG | Frameshift deletion | Common (founder in Eastern Europe) | Loss of function; truncated protein |
| c.109_111delTCT | In-frame deletion | Rare | Loss of DNA binding |
| c.124C>T (p.Arg42Cys) | Missense | Rare | Reduced transactivation |
| c.358C>T (p.Arg120Cys) | Missense | Rare | Impaired nuclear localization |
Mutation functional classification
Loss of Function (LOF)
Most PROP1 mutations are loss-of-function, leading to reduced or absent DNA binding and transactivation of target genes (e.g., POU1F1).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by dimerizing with wild-type PROP1, though recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978) | • DNA-binding transcription factor activity (GO:0000981) |
| • nucleus (GO:0005634) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • animal organ morphogenesis (GO:0009887) | • anterior pituitary gland development (GO:0030093) |
Pathways
• Pituitary gland development (Reactome: R-HSA-5617472)
• Transcriptional regulation of pituitary cell differentiation
Protein Summary
PROP1 is a 226-amino acid homeodomain transcription factor that binds DNA as a dimer. It is transiently expressed in the developing anterior pituitary and activates POU1F1 expression, which in turn drives differentiation of hormone-producing cell types. The protein contains a paired-like homeodomain and a C-terminal transactivation domain. Loss-of-function mutations cause combined pituitary hormone deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PROP1 Knockout HEK293 Cell Line | EDJ-KQ5544 | Human | 5626 | Details Get a Quote |
| PROP1 Knockout HeLa Cell Line | EDJ-KQ54224 | Human | 5626 | Details Get a Quote |
| PROP1 Knockout A-549 Cell Line | EDJ-KQ62718 | Human | 5626 | Details Get a Quote |
| PROP1 Knockout HCT 116 Cell Line | EDJ-KQ71190 | Human | 5626 | Details Get a Quote |
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