EML1 (EMAP like 1)

2007-03-01 Affiliation

Identity

HGNC

EML1

LOCATION

14q32.2

LOCUSID

2009

ALIAS

BH,ELP79,EMAP,EMAP-1,EMAPL

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000066629	ENST00000262233	O00423
ENSG00000066629	ENST00000327921	F8W717
ENSG00000066629	ENST00000334192	O00423
ENSG00000066629	ENST00000553720	G3V5C8
ENSG00000066629	ENST00000554386	H0YJY3
ENSG00000066629	ENST00000554479	G3V3N9
ENSG00000066629	ENST00000554553	H0YJK4
ENSG00000066629	ENST00000555096	G3V3J1
ENSG00000066629	ENST00000555145	G3V538
ENSG00000066629	ENST00000556199	G3V4U5
ENSG00000066629	ENST00000556714	G3V500
ENSG00000066629	ENST00000556835	G3V497
ENSG00000066629	ENST00000556947	G3V4H6
ENSG00000066629	ENST00000557313	H0YJD8
ENSG00000066629	ENST00000557741	H0YJS9
ENSG00000066629	ENST00000649352	A0A3B3IU69

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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)