EML1

From Wikipedia, the free encyclopedia

Echinoderm microtubule associated protein like 1

Identifiers

EML1; ELP79; EMAP; EMAPL; FLJ45033; HuEMAP

External IDs

OMIM: 602033 MGI: 1915769 HomoloGene: 20931

Gene ontology
Molecular Function:	• acid phosphatase activity • calcium ion binding
Cellular Component:	• microtubule • microtubule associated complex
Biological Process:	• visual perception

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_001008707 (mRNA)
NP_001008707 (protein)

XM_001002730 (mRNA)
XP_001002730 (protein)

Location

Chr 14: 99.33 - 99.48 Mb

n/a

Pubmed search

[1]

[2]

Echinoderm microtubule associated protein like 1, also known as EML1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: EML1 echinoderm microtubule associated protein like 1.

[edit] 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. 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. PMID 9110174.
Eudy JD, Ma-Edmonds M, Yao SF, et al. (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. PMID 9226380.
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. PMID 9738858.
Lepley DM, Palange JM, Suprenant KA (1999). "Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2).". Gene 237 (2): 343-9. PMID 10521658.
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. 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.