emr-1 gene encodes a homolog of the human integral nuclear membrane protein emerin ; EMR-1 belongs to a family of proteins sharing the LEM-domain (LAP2-Emerin-MAN1 domain) that are generally conserved in metazoa and bind to lamin; EMR-1, along with another LEM-domain protein, LEM-2 is required for larval development, normal life-span, nuclear envelope and chromatin organization, chromosome segregation and cell division; emr-1 is also required for smooth muscle activity; emr-1 negatively regulates pha-4, the transcription factor required for pharynx identity; EMR-1 protein is found in the nuclear envelopes of all cell types except sperm and at all life stages; EMR-1 binds to lamin/LMN-1; emr-1 mutations also exhibit weak hypersensitivity to DNA damage.
Enables lamin binding activity. Involved in several processes, including mitotic cytokinesis; nuclear envelope organization; and response to X-ray. Located in nuclear inner membrane. Used to study Emery-Dreifuss muscular dystrophy. Is an ortholog of human LEMD1 (LEM domain containing 1).
Mutations in the human ortholog of emr-1, emerin, cause X-linked Emery-Dreifuss muscular dystrophy (EDMD); Emerin is a nuclear lamina protein and belongs to a family of LEM (LAP2-Emerin-MAN1) domain proteins that include MAN1, LEM2/NET25 and several others; LEM domain proteins bind lamin; mutations in human LMNA/lamin cause several laminopathic diseases including EDMD; much of the knowledge of the organization and assembly of the nuclear lamina has come from studies in elegans; studies in elegans have demonstrated the overlapping roles of emerin and lem-2 in embryogenesis, cell proliferation, lamin and heterochromatin organization; worm emerin and lem-2 are also involved in mitosis, smooth and striated muscle function, lifespan and meiotic progression, pointing to the many underlying processes that may affect disease phenotypes.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.