PHC1

Polyhomeotic-like protein 1 is a protein that in humans is encoded by the PHC1 gene.^[5][6]

PHC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L8E
Identifiers
Aliases	PHC1, EDR1, HPH1, MCPH11, RAE28, polyhomeotic homolog 1
External IDs	OMIM: 602978; MGI: 103248; HomoloGene: 107079; GeneCards: PHC1; OMA:PHC1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.31 Start 8,913,896 bp[1] End 8,941,467 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 F1|6 57.52 cM Start 122,294,690 bp[2] End 122,317,520 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube anterior pituitary right hemisphere of cerebellum ganglionic eminence ventricular zone canal of the cervix body of uterus left ovary right lobe of thyroid gland right testis Top expressed in seminiferous tubule epiblast genital tubercle tail of embryo medulla of thymus Gonadal ridge primitive streak mandibular prominence maxillary prominence internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding zinc ion binding metal ion binding protein binding Cellular component PcG protein complex PRC1 complex nucleus nucleoplasm Biological process multicellular organism development histone ubiquitination negative regulation of G0 to G1 transition Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1911 13619 Ensembl ENSG00000111752 ENSMUSG00000040669 UniProt P78364 Q64028 RefSeq (mRNA) NM_004426 NM_001042623 NM_001271579 NM_007905 NM_001355215 RefSeq (protein) NP_004417 NP_001036088 NP_001258508 NP_031931 NP_001342144 NP_001395176 NP_001395177 NP_001395178 NP_001395179 Location (UCSC) Chr 12: 8.91 – 8.94 Mb Chr 6: 122.29 – 122.32 Mb PubMed search [3] [4]
Wikidata
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Function

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMI1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share two highly conserved domains, named homology domains I and II. These domains are involved in protein–protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein.^[6]

Mutations in this gene have been associated to cases of primary microcephaly.^[7]

Interactions

PHC1 has been shown to interact with BMI1^[5][8] and PHC2.^[5][9]