EML1

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)
End	99,942,060 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	108,539,617 bp
RNA expression pattern
	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
	; ;
	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
	2009
	68519
	ENSG00000066629
	ENSMUSG00000058070
	O00423
	Q05BC3
	NM_001008707; NM_004434; NM_001375411; NM_001375412
	NM_001043335; NM_001043336; NM_001286346; NM_001286347
	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
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000066629 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000058070 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: EML1 echinoderm microtubule associated protein like 1".

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000066629 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000058070 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9226380-5] 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.

[pmid10521658-6] 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.

[entrez-7] "Entrez Gene: EML1 echinoderm microtubule associated protein like 1".

[5]

[6]

[7]

[1]

[2]

[3]

[4]

EML1

References

Further reading