EML1 (EMAP like 1)

2007-03-01  

Identity

HGNC
LOCATION
14q32.2
LOCUSID
ALIAS
BH,ELP79,EMAP,EMAP-1,EMAPL
FUSION GENES

Other Information

Locus ID:

NCBI: 2009
MIM: 602033
HGNC: 3330
Ensembl: ENSG00000066629

Variants:

dbSNP: 2009
ClinVar: 2009
TCGA: ENSG00000066629
COSMIC: EML1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066629ENST00000262233O00423
ENSG00000066629ENST00000327921F8W717
ENSG00000066629ENST00000334192O00423
ENSG00000066629ENST00000553720G3V5C8
ENSG00000066629ENST00000554386H0YJY3
ENSG00000066629ENST00000554479G3V3N9
ENSG00000066629ENST00000554553H0YJK4
ENSG00000066629ENST00000555096G3V3J1
ENSG00000066629ENST00000555145G3V538
ENSG00000066629ENST00000556199G3V4U5
ENSG00000066629ENST00000556714G3V500
ENSG00000066629ENST00000556835G3V497
ENSG00000066629ENST00000556947G3V4H6
ENSG00000066629ENST00000557313H0YJD8
ENSG00000066629ENST00000557741H0YJS9
ENSG00000066629ENST00000649352A0A3B3IU69

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
247068292014Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical β-propeller domain.30
248592002014Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.27
257403112015Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain.15
285564112017The genetic landscape of familial congenital hydrocephalus.13
317107812019EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.1

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)