Identity
HGNC
LOCATION
14q32.2
LOCUSID
ALIAS
BH,ELP79,EMAP,EMAP-1,EMAPL
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2009
MIM: 602033
HGNC: 3330
Ensembl: ENSG00000066629
Variants:
dbSNP: 2009
ClinVar: 2009
TCGA: ENSG00000066629
COSMIC: EML1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35289477 | 2022 | Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation. | 12 |
| 35289477 | 2022 | Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation. | 12 |
| 34211111 | 2021 | A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects. | 2 |
| 34211111 | 2021 | A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects. | 2 |
| 31390572 | 2019 | Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia. | 19 |
| 31710781 | 2019 | EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. | 12 |
| 31390572 | 2019 | Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia. | 19 |
| 31710781 | 2019 | EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. | 12 |
| 28556411 | 2017 | The genetic landscape of familial congenital hydrocephalus. | 53 |
| 28556411 | 2017 | The genetic landscape of familial congenital hydrocephalus. | 53 |
| 25740311 | 2015 | Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain. | 45 |
| 25740311 | 2015 | Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain. | 45 |
| 24706829 | 2014 | Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical β-propeller domain. | 51 |
| 24859200 | 2014 | Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. | 52 |
| 24706829 | 2014 | Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical β-propeller domain. | 51 |
Citation
Dessen P
EML1 (EMAP like 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-03-01
Online version: http://atlasgeneticsoncology.org/gene/42966/eml1-(emap-like-1)
