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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEML1, ELP79, EMAP, EMAPL, HuEMAP, echinoderm microtubule associated protein like 1, BH, EMAP like 1, EMAP-1
External IDsOMIM: 602033 MGI: 1915769 HomoloGene: 20931 GeneCards: EML1
Orthologs
SpeciesHumanMouse
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

Location (UCSC)Chr 14: 99.74 – 99.94 MbChr 12: 108.37 – 108.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. GRCh38: Ensembl release 89: ENSG00000066629 - Ensembl, May 2017
  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.
  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.
  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.
  7. "Entrez Gene: EML1 echinoderm microtubule associated protein like 1".

Further reading


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