Version 5.4
Homo sapiens Gene: EML1
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
IDBP-19845
echinoderm microtubule associated protein like 1
IDBP-19847
echinoderm microtubule associated protein like 1
IDBP-19849
echinoderm microtubule associated protein like 1
IDBP-595833
echinoderm microtubule associated protein like 1
IDBP-585690
echinoderm microtubule associated protein like 1
IDBP-590311
echinoderm microtubule associated protein like 1
IDBP-602174
echinoderm microtubule associated protein like 1
IDBP-597996
echinoderm microtubule associated protein like 1
IDBP-583626
echinoderm microtubule associated protein like 1
IDBP-584404
echinoderm microtubule associated protein like 1
IDBP-586657
echinoderm microtubule associated protein like 1
IDBP-600646
echinoderm microtubule associated protein like 1
IDBP-593759
echinoderm microtubule associated protein like 1
IDBP-587886
echinoderm microtubule associated protein like 1
IDBP-602253
echinoderm microtubule associated protein like 1
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:99737693-99942060
Strand Forward strand
Band q32.2
Transcripts
ENST00000334192 ENSP00000334314
ENST00000262233 ENSP00000262233
ENST00000327921 ENSP00000327384
ENST00000554479 ENSP00000451346
ENST00000555145 ENSP00000452160
ENST00000556199 ENSP00000451991
ENST00000556835 ENSP00000451669
ENST00000555096 ENSP00000451269
ENST00000556714 ENSP00000452089
ENST00000553720 ENSP00000452292
ENST00000556947 ENSP00000451805
ENST00000556758
ENST00000557741 ENSP00000452063
ENST00000555277
ENST00000554553 ENSP00000451706
ENST00000554386 ENSP00000452474
ENST00000555812
ENST00000554111
ENST00000557313 ENSP00000451288
ENST00000553313
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0015631 tubulin binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0002244 hematopoietic progenitor cell differentiation
GO:0007052 mitotic spindle organization
GO:0007405 neuroblast proliferation
GO:0007420 brain development
Cellular Component
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0097431 mitotic spindle pole
GO:1990023 mitotic spindle midzone
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000058070
View Gene Order
ENSBTAG00000013491
Not yet available
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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca