EML1

Echinoderm microtubule associated protein like 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4CI8​
Identifiers
Symbols	EML1 ; ELP79; EMAP; EMAPL; HuEMAP
External IDs	OMIM: 602033 MGI: 1915769 HomoloGene: 20931 GeneCards: EML1 Gene
Gene ontology Molecular function • calcium ion binding • protein binding • microtubule binding • tubulin binding Cellular component • cytosol • microtubule • microtubule associated complex • perinuclear region of cytoplasm • mitotic spindle pole • mitotic spindle midzone Biological process • microtubule cytoskeleton organization • hematopoietic progenitor cell differentiation • mitotic spindle organization • neuroblast proliferation • brain development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2009	68519
Ensembl	ENSG00000066629	ENSMUSG00000058070
UniProt	O00423	Q05BC3
RefSeq (mRNA)	NM_001008707	NM_001043335
RefSeq (protein)	NP_001008707	NP_001036800
Location (UCSC)	Chr 14: 99.74 – 99.94 Mb	Chr 12: 108.37 – 108.54 Mb
PubMed search

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the EML1 gene.^[1][2][3]

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.^[3]

References

1. Eudy JD, Ma-Edmonds M, Yao SF, Talmadge CB, Kelley PM, Weston MD, Kimberling WJ, Sumegi J (Sep 1997). "Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32". Genomics 43 (1): 104–6. doi:10.1006/geno.1997.4779. PMID 9226380.
2. Lepley DM, Palange JM, Suprenant KA (Nov 1999). "Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)". Gene 237 (2): 343–9. doi:10.1016/S0378-1119(99)00335-2. PMID 10521658.
3. "Entrez Gene: EML1 echinoderm microtubule associated protein like 1".

Further reading

• Kaplan J, Gerber S, Bonneau D; et al. (1993). "A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.". Genomics 14 (4): 979–87. doi:10.1016/S0888-7543(05)80120-X. PMID 1478676.
• Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Schaefer GB, Bodensteiner JB, Thompson JN; et al. (1999). "Volumetric neuroimaging in Usher syndrome: evidence of global involvement". Am. J. Med. Genet. 79 (1): 1–4. doi:10.1002/(SICI)1096-8628(19980827)79:1<1::AID-AJMG1>3.0.CO;2-T. PMID 9738858.
• Ly CD, Roche KW, Lee HK, Wenthold RJ (2002). "Identification of rat EMAP, a delta-glutamate receptor binding protein". Biochem. Biophys. Res. Commun. 291 (1): 85–90. doi:10.1006/bbrc.2002.6413. PMID 11829466.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.