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FLASH GENE

Symbol

EML1

contributors: mct - updated : 08-06-2022

HGNC name	echinoderm microtubule associated protein like 1
HGNC id	3330

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001008707 23 - 4517 NP_001008707 - 834 - 2019 31710781 NM_004434 22 - 4460 NP_004425 - 815 - 2019 31710781 NM_001375411 22 - 4468 NP_001362340 - 802 - 2019 31710781 NM_001375412 22 - 4328 NP_001362341 - 771 - 2019 31710781

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Endocrine parathyroid       highly Nervous nerve cranial nerve     highly Respiratory lung       lowly Urinary kidney       lowly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain, kidney, lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a basic N terminal
	an acidic C terminal composed of a series of 10 imperfect WD repeats
	a coiled-coil domain

HOMOLOGY

interspecies

homolog to C.elegans C24A1.2

intraspecies

homolog to echinoderm microtubule-associated protein (EMAP)

Homologene

FAMILY

EMAP family of WD repeat proteins

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nuclear envelope,ext
text	binds to the microtubule complex

basic FUNCTION	may modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic
	ligand sensitivity of cGMP-gated (CNG) ion channels in cone photoreceptors is modulated by EML1, a Ca(2+)-binding protein
	likely functions early in eye development and is crucial for proper retinal lamination during cellular proliferation and development
	plays likely an important role in retina development but does not modulate phototransduction in mammalian rods and cones

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OVGRH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       in a T-cell acute lymphoblastic leukemia patient with a cryptic t(9;14)(q34;q32) associated with deletion of CDKN2A (p16) and expression of TLX1 (HOX11) constitutional       loss of function impairs apical progenitor spindle length and soma shape in the developing cerebral cortex

Susceptibility

Variant & Polymorphism

Candidate gene	for USH1A
Marker	EML1 rs10151787 A>G and H4C5 rs2069018 T>C are independent prognostic biomarkers for cutaneous melanoma-specific survival (CMSS)
Therapy target	novel therapeutic target of imatinib, in T- ALL

ANIMAL & CELL MODELS

nonsense mutation in the Eml1 gene in a novel murine model, tvrm360, displaying subcortical heterotopia, hydrocephalus and disorganization of retinal architecture