EML1

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the EML1 gene.^[5][6][7]

EML1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4CI8
Identifiers
Aliases	EML1, ELP79, EMAP, EMAPL, HuEMAP, echinoderm microtubule associated protein like 1, BH, EMAP like 1, EMAP-1
External IDs	OMIM: 602033; MGI: 1915769; HomoloGene: 20931; GeneCards: EML1; OMA:EML1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.2 Start 99,737,693 bp[1] End 99,942,060 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F1|12 59.46 cM Start 108,370,957 bp[2] End 108,539,617 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence gastric mucosa synovial joint epithelium of colon ventricular zone muscle layer of sigmoid colon Achilles tendon right lung amniotic fluid stromal cell of endometrium Top expressed in interventricular septum superior cervical ganglion muscle of thigh spinal ganglia lumbar spinal ganglion neural tube knee joint neural layer of retina ventricular zone skeletal muscle tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function tubulin binding calcium ion binding protein binding microtubule binding Cellular component cytoplasm perinuclear region of cytoplasm mitotic spindle midzone cytosol mitotic spindle pole microtubule cytoskeleton microtubule associated complex microtubule cytoskeleton mitotic spindle Biological process neuroblast proliferation mitotic spindle organization brain development hematopoietic progenitor cell differentiation microtubule cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2009 68519 Ensembl ENSG00000066629 ENSMUSG00000058070 UniProt O00423 Q05BC3 RefSeq (mRNA) NM_001008707 NM_004434 NM_001375411 NM_001375412 NM_001043335 NM_001043336 NM_001286346 NM_001286347 RefSeq (protein) NP_001008707 NP_004425 NP_001362340 NP_001362341 NP_001036800 NP_001036801 NP_001273275 NP_001273276 NP_001351122 NP_001351123 NP_001351124 NP_001351125 NP_001351126 NP_001351127 NP_001351128 Location (UCSC) Chr 14: 99.74 – 99.94 Mb Chr 12: 108.37 – 108.54 Mb PubMed search [3] [4]
Wikidata
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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 categorized 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.^[7]