Seroatlas · Human Serome Atlas

YWHAE

14-3-3 protein epsilon

Also known as: 1433E_HUMAN, FLJ45465

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P62258
Gene: YWHAE
Ensembl: ENSG00000108953
Chromosome: 17
Canonical length: 255 aa
Protein class: Cancer-related genes, Plasma proteins, Predicted intracellular proteins, Transporters
Subcellular location: Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

255 residues, UniProt reviewed canonical sequence.

>P62258|YWHAE
     1  MDDREDLVYQ AKLAEQAERY DEMVESMKKV AGMDVELTVE ERNLLSVAYK NVIGARRASW
    61  RIISSIEQKE ENKGGEDKLK MIREYRQMVE TELKLICCDI LDVLDKHLIP AANTGESKVF
   121  YYKMKGDYHR YLAEFATGND RKEAAENSLV AYKAASDIAM TELPPTHPIR LGLALNFSVF
   181  YYEILNSPDR ACRLAKAAFD DAIAELDTLS EESYKDSTLI MQLLRDNLTL WTSDMQGDGE
   241  EQNKEALQDV EDENQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against YWHAE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 655 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 655 nTPM
spinal cord: 592 nTPM
amygdala: 548 nTPM
midbrain: 532 nTPM
cerebral cortex: 502 nTPM
hippocampal formation: 469 nTPM

Single-cell type

late spermatids: 238 nCPM
megakaryocytes: 192 nCPM
renal collecting duct intercalated cells: 173 nCPM
proximal tubule cells: 169 nCPM
loop of henle epithelial cells: 163 nCPM
platelets: 160 nCPM

Immune cell

myeloid DC: 180 nTPM
intermediate monocyte: 153 nTPM
total PBMC: 150 nTPM
non-classical monocyte: 145 nTPM
classical monocyte: 137 nTPM
plasmacytoid DC: 134 nTPM

Brain region

white matter: 391 nTPM
spinal cord: 358 nTPM
hypothalamus: 350 nTPM
medulla oblongata: 335 nTPM
cerebral cortex: 334 nTPM
cerebellum: 325 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about YWHAE.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 91 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

See cases
YWHAE-associated disorder
Miller Dieker syndrome

Disease | ImmuneIEDB

Conditions an epitope on YWHAE was assayed in.

Timothy grass allergy T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.24
gnomAD pLI: 0.98
gnomAD missense Z: 2.83
DepMap mean gene effect: -0.39
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of YWHAE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads YWHAE as an antibody target. Whether an autoantibody or antibody against YWHAE could matter depends on whether native YWHAE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

YWHAE is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label YWHAE as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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