Target intelligence / Profile preview

Polyhomeotic-like protein 1 (PHC1)

Target
PHC1
Molecular classification
Epigenetic regulator, Polycomb group protein, Component of Polycomb repressive complex 1 (PRC1), Chromatin-associated protein, Other
01

Overview

Polyhomeotic-like protein 1 (PHC1) is a chromatin-associated protein encoded by the PHC1 gene in humans and is a conserved member of the Polycomb group (PcG) of proteins[1][3]. PHC1 acts as a core component of the Polycomb repressive complex 1 (PRC1), which regulates gene expression via chromatin remodeling and histone modification, particularly by monoubiquitination of histone H2A at lysine 119[3]. This epigenetic silencing is crucial for maintaining transcriptional repression of key developmental genes, including Hox genes, thus ensuring proper development and stem cell maintenance[3][2]. PHC1 mutations cause primary microcephaly and can impair DNA repair mechanisms[3][4]. PcG proteins, including PRC1 complexes with PHC1, are implicated in the control of cell fate, proliferation, and differentiation, and their dysregulation is associated with cancer and a range of neurodevelopmental disorders[2][3].

Other names
Polyhomeotic homolog 1PHC1EDR1PH1hPH1HPH1RAE28Early development regulatory protein 1MCPH11early development regulator 1 (homolog of polyhomeotic 1)polyhomeotic-like 1
02

Biological functions

Chromatin remodelingRegulation of gene expressionHistone modification (monoubiquitination of histone H2A Lys119)Maintenance of transcriptional repression (particularly of Hox genes)Regulation of cell proliferation and senescenceControl of neural developmentDNA binding and protein-protein interaction
03

Disease associations

CancerPrimary autosomal recessive microcephaly (including Microcephaly 11)Impaired DNA repairOther developmental disorders
04

Safety considerations

Potential for developmental toxicity (deficiency causes microcephaly)Possible roles in tumorigenicity if dysregulated
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Biomarkers

PHC1 mutations as biomarkers for primary microcephalyExpression changes as potential markers in cancer or developmental disorders

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