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

Gene ID: 7531, updated on 6-Sep-2022

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; AllianceGenome:HGNC:12851
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
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Genomic context

See YWHAE in Genome Data Viewer
Location:
17p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1344275..1400222, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1232983..1288946, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1247569..1303516, 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 14526 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
enables MHC class II protein complex binding HDA PubMed 
enables RNA binding HDA PubMed 
enables cadherin binding HDA PubMed 
enables calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables phosphoserine residue binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphoserine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase binding IEA
Inferred from Electronic Annotation
more info
 
enables scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to heat IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
involved_in negative regulation of calcium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of calcium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of peptidyl-serine dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein targeting IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of heart rate by cardiac conduction IC
Inferred by Curator
more info
PubMed 
involved_in regulation of heart rate by hormone NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of potassium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in substantia nigra development HEP PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in melanosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in 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)

NEW Try the new Transcript table

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, Q7M4R4
    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_024058.2 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)
    AC032044, AY883089, DC365395
    Related
    ENST00000571732.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1344275..1400222 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    286301..342248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1232983..1288946 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)