EML1

Also known as EMAPL, ELP79, EMAP, HuEMAP, echinoderm microtubule associated protein like 1, BH, EMAP like 1, EMAP-1

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the EML1 gene.

In the Vinony graph

Vinony's link graph records 3 inbound references to EML1, and connects out to PubMed, human chromosome 14 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 14.

Vinony links it to 5 Wikipedia language editions.

Gene data

EML1

Name: EMAP like 1
Type: protein-coding
Position: 99,737,693–99,942,060 (+)
Aliases: BH, ELP79, EMAP, EMAP-1, EMAPL
Ensembl: ENSG00000066629
RefSeq RNA: NM_001008707.2, NM_001375411.1, NM_001375412.1, NM_001440375.1, NM_001440376.1
RefSeq protein: NP_001008707.1, NP_001362340.1, NP_001362341.1, NP_001427304.1, NP_001427305.1

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. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

EMAP like 1

Symbol: EML1
Biotype: Protein coding
Organism: Homo sapiens
Location: 14:99,737,693-99,942,060
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 20931
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/2009
genomic end: 100408397
genomic start: 100204030
chromosome: human chromosome 14
cytogenetic location: 14q32.2

Sources (4)

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Encyclopedic overview

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Contents

References
Further reading

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the EML1 gene.

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.

Excerpted from Wikipedia’s “EML1” article, available under the CC BY-SA 4.0 licence.