PHC1 gene

polyhomeotic homolog 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 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. [provided by RefSeq, Jul 2008]

From UniProt:

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression.

From NCBI Gene:

  • Primary autosomal recessive microcephaly 11

From UniProt:

Microcephaly 11, primary, autosomal recessive (MCPH11): A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. [MIM:615414]

Cytogenetic Location: 12p13, which is the short (p) arm of chromosome 12 at position 13

Molecular Location: base pairs 8,914,664 to 8,941,467 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13, which is the short (p) arm of chromosome 12 at position 13
  • EDR1
  • HPH1
  • MCPH11
  • RAE28