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FLASH GENE

Symbol

YWHAE

contributors: mct/ - updated : 19-09-2019

HGNC name	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
HGNC id	12851

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL17P13D chromosome 17p13 deletion, distal to PAFAH1B1 involving YWHAE. DUP17P13 chromosome 17p13.3 microduplications MDS Miller-Dieker lissencephaly syndrome
Location	17p13.3      Physical location : 1.247.835 - 1.303.556
Synonym name	14-3-3 epsilon protein
	mitochondrial import stimulation factor L subunit
	protein kinase C inhibitor protein-1
Synonym symbol(s)	14-3-3-E, KCIP-1, MDCR, FLJ45465, HEL2, FLJ53559

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	55.72 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006761 6 - 1827 NP_006752 29 255 - 2019 30651536

EXPRESSION

Type	ubiquitous

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       highly Mus musculus Fetal   vessel       predominantly Digestive esophagus       highly   intestine small intestine     moderately   liver       moderately   mouth tongue     moderately Endocrine parathyroid       moderately Nervous brain       moderately Reproductive female system uterus cervix   moderately Visual eye retina     predominantly Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone       Muscular striatum cardiac     Mus musculus Fetal

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Mus musculus Fetal Visual rod photoreceptor Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to rattus Ywhae (98.8pc)
	ortholog to murine Ywhae (99.6pc)

Homologene

FAMILY

14-3-3 family

CATEGORY

adaptor , regulatory , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus,chromatin/chromosome,kinetochore
	intracellular,nucleus,nucleolus

basic FUNCTION	inhibitor of apoptosis through inhibiting the activation of p38 MAP kinase
	multifunctional regulator required for cytoplasmic dynein function, neuronal migration and brain development
	implicated in the regulation of a large spectrum of both general and specialized signaling pathway
	playing a crucial role in neronal development by sustaining the effects of CDK5 phosphorylation
	involved in the proper localization of NDEL1 and PAFAH1B1 in axons
	YWHAE and DISC1, two schizophrenia susceptibility factors have been implicated in the regulation of spine density
	is a key component of a DDX58 translocon required for innate antiviral immunity
	may act as an important regulator in modulating tumor metastasis by promoting EMT as well as cell migration
	subchondral bone soluble mediator altering cartilage homeostasis
	CDK5, YWHAE, and CDK5 cofactor C2CD5 together promote NDEL1 phosphorylation and are essential for force adaptation

CELLULAR PROCESS	cell life, antiapoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	complex LIS1/CDK5/NDEL1/YWHAE, pathway in neuronal migration and development
	HDAC7 directly binds to beta-catenin and forms a complex with YWHAE, YWHAZ, and YWHAH proteins

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	p38 MAP kinase
	LIS1 and NDEL1 (maintaining phosphorylation of NDEL1)
	KCNH2 (to control the membrane excitability and cardiac rhythm)
	HCV core protein
	forms a complex with DISC1 (both DISC1 and YWHAE are required for neuronal development via transport of the NUDEL/LIS1 complex
	interaction with YWHAB, ATXN1, YWHAH, YWHAZ mediated by AKT1 to modulate the neurotoxicity of SCA1
	regulates cardiogenesis and growth of the compact ventricular myocardium by modulating the cardiomyocyte cell cycle via both CCNE1 and CDKN1B
	interaction between NAV2 and YWHAE could provide insight into the mechanism by which NAV2 participates in promoting cell migration and neuronal elongation
	YWHAE interacts with the kinase domain of MAP3K5 in close proximity to its active site, thus indicating this interaction might block its accessibility and/or affect its conformation
	YWHAE-BHMT interaction is lost in the presence of low salt concentrations, whereas the BHMT2-BHMT interaction remains stable
	YWHAE-induced expression of ZNF479, a novel potential transcriptional regulator by gene expression profiling and ZNF479 contributed to YWHAE-suppressed MT1A expression

cell & other

REGULATION

activated by

Cl-channel with CLCA1

ASSOCIATED DISORDERS

corresponding disease(s)

MDS , DEL17P13D , DUP17P13

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in gastric cancer tumoral   deletion     in small cell lung cancer constitutional     --low   synaptic reduction of DISC1 and YWHAE is developmentally correlated with the age-dependent decrease in striatal spine density

Susceptibility

to schizophrenia

Variant & Polymorphism SNP	SNP which influence the expression of 14-3-3 epsilon RNA and protein, is associated with schizophrenia and seems to work protectively

Candidate gene
Marker	may serve as a novel prognostic biomarker for hepatocellular carcinoma (HCC)
Therapy target
	System Type Disorder Pubmed immunology inflammatory   YWHAE/ANPEP interaction could be a new therapeutic target in osteoarthritis cancer digestive stomach may serve as a therapeutic target for hepatocellular carcinoma (HCC)

ANIMAL & CELL MODELS

Ywhae knockout mouse is useful for pathophysiological analyses of neuropsychiatric disorders caused by defects during neurodevelopment 7)