======= EML1 ======= == Gene Information == * **Official Symbol**: EML1 * **Official Name**: EMAP like 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2009|2009]] * **UniProt**: [[https://www.uniprot.org/uniprot/O00423|O00423]] * **Interactions**: [[https://thebiogrid.org/search.php?search=EML1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EML1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/602033|Open OMIM]] == Function Summary == * **Entrez Summary**: Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. * **UniProt Summary**: Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se. {ECO:0000250|UniProtKB:Q05BC3}. |HELP| |mitotic spindle midzone| |mitotic spindle pole| |microtubule associated complex| |neuroblast proliferation| |stem cell proliferation| |tubulin binding| |neural precursor cell proliferation| |mitotic spindle organization| |mitotic spindle| |hematopoietic progenitor cell differentiation| |microtubule cytoskeleton organization involved in mitosis| |microtubule cytoskeleton| |spindle organization| |microtubule binding| |microtubule| |microtubule cytoskeleton organization| |cell population proliferation| |hemopoiesis| |mitotic cell cycle process| |hematopoietic or lymphoid organ development| |immune system development| |microtubule-based process| |mitotic cell cycle| |perinuclear region of cytoplasm| |calcium ion binding| |brain development| |head development| |central nervous system development| |cell cycle process| |cytoskeleton organization| |cell cycle| |generation of neurons| |neurogenesis| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|1.81| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 13200 * **Expression level (log2 read counts)**: 2.71 {{:chemogenomics:nalm6 dist.png?nolink |}}