Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
MCPH1 microcephalin 1 MCT , BRIT1 Homo sapiens 23 protein-coding 607117

Summary

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

GeneOntology

Gene Loss events - MCPH1 (7 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_43YT4Y Mesoplodon densirostris Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7
GL_MAWAF7 Sousa chinensis Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7
GL_N0ZF4A Kogia sima Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7
GL_OAERMD Orcinus orca Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7
GL_T3E8MA Delphinapterus leucas Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7
GL_TVQI6U Physeter catodon Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7
GL_WP7EXL Grampus griseus Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/s12862-017-1051-7