YWHAE - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Gene

Homo sapiens

Also known as MDS; HEL2; MDCR; KCIP-1; 14-3-3E

Gene ID: 7531 | Gene type: protein coding

About YWHAE

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,344,275-1,400,222 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 217 orthologues, 6 paralogues and is associated with 72 phenotypes. Ubiquitous expression in brain (RPKM 317.4), kidney (RPKM 169.5) and 25 other tissues.

Summary

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both Plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of Insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung Cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

YWHAE Products(1)

mRNA	Protein	Name
NM_006761.5	NP_006752.1	2014/3/3 protein epsilon

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium channel inhibitor activity	IDA IDA: Inferred from direct assay	18029012	GOA
enables calcium channel regulator activity	IDA IDA: Inferred from direct assay	18029012	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	10788521	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	10869435	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17085597	GOA
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	10869435	GOA
enables phosphoserine residue binding	IPI IPI: Inferred from physical interaction	10869435	GOA
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	11953308	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1266503	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	11953308	GOA
enables protein sequestering activity	IDA IDA: Inferred from direct assay	11118213	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	10409742	GOA
enables signaling adaptor activity	IDA IDA: Inferred from direct assay	22607805	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	11953308	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	19725078	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in MAPK cascade	IDA IDA: Inferred from direct assay	12917326	GOA
involved in cellular response to heat	IDA IDA: Inferred from direct assay	12917326	GOA
involved in cytoplasmic pattern recognition receptor signaling pathway	IDA IDA: Inferred from direct assay	22607805	GOA
involved in cytoplasmic sequestering of protein	IDA IDA: Inferred from direct assay	11118213	GOA
involved in negative regulation of calcium ion export across plasma membrane	IDA IDA: Inferred from direct assay	18029012	GOA
involved in negative regulation of toll-like receptor signaling pathway	IDA IDA: Inferred from direct assay	35343654	GOA
involved in positive regulation of hippo signaling	IDA IDA: Inferred from direct assay	11118213	GOA
involved in positive regulation of protein export from nucleus	IDA IDA: Inferred from direct assay	12917326	GOA
involved in protein localization to endoplasmic reticulum	IDA IDA: Inferred from direct assay	35343654	GOA
involved in protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	29769719	GOA
involved in regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	18029012	GOA
involved in regulation of membrane repolarization	IDA IDA: Inferred from direct assay	11953308	GOA
involved in regulation of potassium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	11953308	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in cytoplasm	IDA IDA: Inferred from direct assay	11118213	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12917326	GOA
located in cytosol	IDA IDA: Inferred from direct assay	31906564	GOA
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	35343654	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12917326	GOA
colocalizes with plasma membrane	IDA IDA: Inferred from direct assay	18029012	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

YWHAE Protein Structure

14-3-3

0
100
200
255 a.a.

Protein Preferred Names

Protein Names

14-3-3 protein epsilon

14-3-3 epsilon

Recombinant YWHAE Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7445	14-3-3 epsilon Protein, Human (GST)	P62258/NP_006752.1 (M1-Q255)	≥95%

Related Diseases

Diseases

Alias

Endometrial Stromal Sarcoma

Ess	Endometrial Stromal Sarcoma, High Grade
Undifferentiated Endometrial Sarcoma	Stromal Sarcoma Of The Corpus Uteri
Sarcoma Endometrial Stromal	Sarcoma, Endometrial Stromal
Undifferentiated Stromal Sarcoma

Kidney Clear Cell Sarcoma

Clear Cell Sarcoma Of Kidney	Childhood Kidney Clear Cell Sarcoma
Renal Clear Cell Sarcoma	Ccsk
Clear Cell Sarcoma Of The Kidney

Distal 17p13.3 Microdeletion Syndrome

Distal Del(17)(P13.3 )

Distal Monosomy 17p13.3

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome	17p13.3 Duplication Syndrome
17p13.3 Microduplication Syndrome	Trisomy 17p13.3
Chromosome 17p13.3 Centromeric Duplication Syndrome	Dup(17)(P13.3)

Endometrial Stromal Tumor

Endometrial Stromal Neoplasm

Endometrial Stromal Tumors

Endometrial Stromal Nodule

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Kidney Sarcoma

Renal Sarcoma

Sarcoma Of Kidney

Vaginal Endometrial Stromal Sarcoma

Vagina Sarcoma

Sarcoma Of The Vagina

Vaginal Sarcoma

Myxoid Leiomyosarcoma

Leiomyosarcoma, Myxoid

Lissencephaly 4

LIS4	Lissencephaly 4 With Microcephaly
Microlissencephaly	Lissencephaly, Type 4

Cellular Congenital Mesoblastic Nephroma

Adenosarcoma

Mullerian Adenosarcoma

Clear Cell Sarcoma

Sarcoma, Clear Cell	Adult Soft Part Clear Cell Sarcoma
Clear Cell Sarcoma Of Soft Parts	Malignant Melanoma Of Soft Parts
Malignant Melanoma Of Soft Tissues	Melanoma, Malignant, Of Soft Parts
Sarcoma Clear Cell

Congenital Mesoblastic Nephroma

Mesoblastic Nephroma

Nephroma, Mesoblastic

Lissencephaly 1

LIS1	Classic Lissencephaly
Ils	Subcortical Laminar Heterotopia
Lissencephaly Due To Lis1 Mutation	Lissencephaly Sequence, Isolated
Lissencephaly, Classic	Pafah1b1-Related Lissencephaly
Classical Lissencephaly	Lissencephaly Type 1
Lissencephaly-1	Subcortical Band Heterotopia
Double Cortex	Lissencephaly Classic
Lissencephaly Sequence Isolated	Isolated Lissencephaly Sequence
Type 1 Lissencephaly	Lissencephaly Syndrome Type 1
SBH	Sclh
Lissencephaly, Type 1	Type I Lissencephaly

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Kidney Fibrosarcoma

Fibrosarcoma Of The Kidney

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15941	YWHAE Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	YWHAE	VGNC	VGNC:37045
Rattus norvegicus	YWHAE	RGD	RGD:62000
Macaca mulatta	YWHAE	VGNC	VGNC:104677
Mus musculus	YWHAE	MGD	MGI:894689
Others	YWHAE	NCBI

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