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YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [ Homo sapiens (human) ]

Gene ID: 7531, updated on 5-Jan-2020

Summary

Official Symbol
YWHAEprovided by HGNC
Official Full Name
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilonprovided by HGNC
Primary source
HGNC:HGNC:12851
See related
Ensembl:ENSG00000108953 MIM:605066
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MDS; HEL2; MDCR; KCIP-1; 14-3-3E
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]
Expression
Ubiquitous expression in brain (RPKM 317.4), kidney (RPKM 169.5) and 25 other tissues See more
Orthologs

Genomic context

See YWHAE in Genome Data Viewer
Location:
17p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (1344275..1400262, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1247833..1303669, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene basic helix-loop-helix family member a9 Neighboring gene trafficking regulator of GLUT4 (SLC2A4) 1 Neighboring gene Sharpr-MPRA regulatory region 4720 Neighboring gene CRK proto-oncogene, adaptor protein Neighboring gene myosin IC

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2014-06-19)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated (2014-06-19)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates expression of c-Myc, Max, and 14-3-3epsilon proteins, and decreases phosphorylation of ATP-dependent tyrosine kinases (Akt) at Ser-473 in human mesangial cells (HMC) PubMed
Vpr vpr HIV-1 Vpr inhibits insulin-induced association of 14-3-3 and Foxo3a in HeLa cells PubMed
vpr Interaction of HIV-1 Vpr with human 14-3-3 protein is presumed based on homology to yeast DNA damage checkpoint protein rad25 which enhances HIV-1 Vpr-induced G2 arrest in vitro, most likely through the inhibition of Cdc25 PubMed
integrase gag-pol HIV-1 IN is identified to have a physical interaction with 14-3-3 epsilon (YWHAE) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE; 14-3-3 protein epsilon) at amino acid residues 6-7 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45465, FLJ53559

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class II protein complex binding HDA PubMed 
RNA binding HDA PubMed 
cadherin binding HDA PubMed 
calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphoserine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to heat IDA
Inferred from Direct Assay
more info
PubMed 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
hippo signaling TAS
Traceable Author Statement
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
membrane repolarization during cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
negative regulation of calcium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of calcium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process TAS
Traceable Author Statement
more info
 
negative regulation of peptidyl-serine dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting IEA
Inferred from Electronic Annotation
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of heart rate by cardiac conduction IC
Inferred by Curator
more info
PubMed 
regulation of heart rate by hormone NAS
Non-traceable Author Statement
more info
PubMed 
regulation of membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
regulation of potassium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
substantia nigra development HEP PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
central region of growth cone IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
kinesin complex IEA
Inferred from Electronic Annotation
more info
 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
14-3-3 protein epsilon
Names
14-3-3 epsilon
epididymis luminal protein 2
mitochondrial import stimulation factor L subunit
protein kinase C inhibitor protein-1
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009233.1 RefSeqGene

    Range
    5041..60988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006761.5NP_006752.1  14-3-3 protein epsilon

    See identical proteins and their annotated locations for NP_006752.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AC032044, AY883089, DC365395
    Consensus CDS
    CCDS11001.1
    UniProtKB/Swiss-Prot
    P62258
    UniProtKB/TrEMBL
    V9HW98
    Related
    ENSP00000264335.8, ENST00000264335.13
    Conserved Domains (1) summary
    cd10020
    Location:4233
    14-3-3_epsilon; 14-3-3 epsilon, an isoform of 14-3-3 protein

RNA

  1. NR_024058.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1, that contains an in-frame stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AY883089, DC365395
    Related
    ENST00000571732.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    1344275..1400262 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025005.2XP_016880494.1  14-3-3 protein epsilon isoform X2

    Conserved Domains (1) summary
    cl02098
    Location:1211
    14-3-3; 14-3-3 domain
  2. XM_005256784.4XP_005256841.1  14-3-3 protein epsilon isoform X1

    See identical proteins and their annotated locations for XP_005256841.1

    Conserved Domains (1) summary
    cd10020
    Location:4233
    14-3-3_epsilon; 14-3-3 epsilon, an isoform of 14-3-3 protein

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    286301..342288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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