Homo sapiens Gene: EML1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-19843.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | EML1 | ||||||||||||||||||
Gene Name | echinoderm microtubule associated protein like 1 | ||||||||||||||||||
Synonyms | ELP79; EMAP; EMAPL; HuEMAP | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000066629 | ||||||||||||||||||
Encoded Proteins |
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
echinoderm microtubule associated protein like 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
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. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 14:99737693-99942060 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q32.2 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | G3V497 G3V4U5 G3V500 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 2009 | ||||||||||||||||||
UniGene | Hs.593191 Hs.608227 | ||||||||||||||||||
RefSeq | NM_001008707 NM_004434 XM_005267400 | ||||||||||||||||||
HUGO | HGNC:3330 | ||||||||||||||||||
OMIM | 602033 | ||||||||||||||||||
CCDS | CCDS32154 CCDS32155 | ||||||||||||||||||
HPRD | 03613 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AL133368 AL136000 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | 2009 | ||||||||||||||||||