Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7533
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol YWHAH   Gene   UCSC   Ensembl
Aliases YWHA1
Gene name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta
Alternate names 14-3-3 protein eta, 14-3-3 eta, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide,
Gene location 22q12.3 (31944492: 31957602)     Exons: 2     NC_000022.11
Gene summary(Entrez) 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 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]
OMIM 113508

Protein Summary

Protein general information Q04917  

Name: 14 3 3 protein eta (Protein AS1)

Length: 246  Mass: 28,219

Tissue specificity: Expressed mainly in the brain and present in other tissues albeit at lower levels.

Sequence MGDREQLLQRARLAEQAERYDDMASAMKAVTELNEPLSNEDRNLLSVAYKNVVGARRSSWRVISSIEQKTMADGN
EKKLEKVKAYREKIEKELETVCNDVLSLLDKFLIKNCNDFQYESKVFYLKMKGDYYRYLAEVASGEKKNSVVEAS
EAAYKEAFEISKEQMQPTHPIRLGLALNFSVFYYEIQNAPEQACLLAKQAFDDAIAELDTLNEDSYKDSTLIMQL
LRDNLTLWTSDQQDEEAGEGN
Structural information
Interpro:  IPR000308 IPR023409 IPR023410
Prosite:   PS00796 PS00797

Pfam:  
PF00244

PDB:  
2C63 2C74
PDBsum:   2C63 2C74

DIP:  
27566
MINT:   124456
STRING:   ENSP00000248975;
Other Databases GeneCards:  YWHAH;  Malacards:  YWHAH

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002028 regulation of sodium ion
transport
IDA biological_process
GO:0003779 actin binding
IEA molecular_function
GO:0005159 insulin-like growth facto
r receptor binding
ISS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
ISS cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006713 glucocorticoid catabolic
process
IDA biological_process
GO:0006886 intracellular protein tra
nsport
ISS biological_process
GO:0014704 intercalated disc
IC cellular_component
GO:0017080 sodium channel regulator
activity
IDA molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019904 protein domain specific b
inding
ISS molecular_function
GO:0021762 substantia nigra developm
ent
IEP biological_process
GO:0030659 cytoplasmic vesicle membr
ane
TAS cellular_component
GO:0035259 glucocorticoid receptor b
inding
IPI molecular_function
GO:0042921 glucocorticoid receptor s
ignaling pathway
IDA biological_process
GO:0044325 ion channel binding
IPI molecular_function
GO:0044325 ion channel binding
IPI molecular_function
GO:0045664 regulation of neuron diff
erentiation
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048167 regulation of synaptic pl
asticity
ISS biological_process
GO:0050774 negative regulation of de
ndrite morphogenesis
ISS biological_process
GO:0061024 membrane organization
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0086010 membrane depolarization d
uring action potential
IDA biological_process
GO:1900740 positive regulation of pr
otein insertion into mito
chondrial membrane involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:2000649 regulation of sodium ion
transmembrane transporter
activity
IDA biological_process
GO:0002028 regulation of sodium ion
transport
IDA biological_process
GO:0003779 actin binding
IEA molecular_function
GO:0005159 insulin-like growth facto
r receptor binding
ISS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
ISS cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006713 glucocorticoid catabolic
process
IDA biological_process
GO:0006886 intracellular protein tra
nsport
IEA biological_process
GO:0006886 intracellular protein tra
nsport
ISS biological_process
GO:0014704 intercalated disc
IC cellular_component
GO:0017080 sodium channel regulator
activity
IDA molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0019904 protein domain specific b
inding
ISS molecular_function
GO:0021762 substantia nigra developm
ent
IEP biological_process
GO:0030659 cytoplasmic vesicle membr
ane
TAS cellular_component
GO:0035259 glucocorticoid receptor b
inding
IPI molecular_function
GO:0042921 glucocorticoid receptor s
ignaling pathway
IDA biological_process
GO:0044325 ion channel binding
IEA molecular_function
GO:0044325 ion channel binding
IPI molecular_function
GO:0044325 ion channel binding
IPI molecular_function
GO:0045664 regulation of neuron diff
erentiation
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048167 regulation of synaptic pl
asticity
ISS biological_process
GO:0050774 negative regulation of de
ndrite morphogenesis
IEA biological_process
GO:0050774 negative regulation of de
ndrite morphogenesis
ISS biological_process
GO:0061024 membrane organization
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0086010 membrane depolarization d
uring action potential
IDA biological_process
GO:1900740 positive regulation of pr
otein insertion into mito
chondrial membrane involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:2000649 regulation of sodium ion
transmembrane transporter
activity
IDA biological_process
GO:0002028 regulation of sodium ion
transport
IDA biological_process
GO:0005159 insulin-like growth facto
r receptor binding
ISS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
ISS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006713 glucocorticoid catabolic
process
IDA biological_process
GO:0006886 intracellular protein tra
nsport
ISS biological_process
GO:0014704 intercalated disc
IC cellular_component
GO:0017080 sodium channel regulator
activity
IDA molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019904 protein domain specific b
inding
ISS molecular_function
GO:0021762 substantia nigra developm
ent
IEP biological_process
GO:0030659 cytoplasmic vesicle membr
ane
TAS cellular_component
GO:0035259 glucocorticoid receptor b
inding
IPI molecular_function
GO:0042921 glucocorticoid receptor s
ignaling pathway
IDA biological_process
GO:0044325 ion channel binding
IPI molecular_function
GO:0044325 ion channel binding
IPI molecular_function
GO:0045664 regulation of neuron diff
erentiation
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048167 regulation of synaptic pl
asticity
ISS biological_process
GO:0050774 negative regulation of de
ndrite morphogenesis
ISS biological_process
GO:0061024 membrane organization
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0086010 membrane depolarization d
uring action potential
IDA biological_process
GO:1900740 positive regulation of pr
otein insertion into mito
chondrial membrane involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:2000649 regulation of sodium ion
transmembrane transporter
activity
IDA biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa05169  Epstein-Barr virus infection
hsa05203  Viral carcinogenesis
hsa04390  Hippo signaling pathway
hsa04110  Cell cycle
hsa04114  Oocyte meiosis

Diseases

Associated diseases References
Endometriosis PMID: 16210010
Endometriosis INFBASE16210010
Parkinson's disease PMID: 12480176
Schizophrenia PMID: 11121172

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16210010 Endometrio
sis


RON
SOS
14-3-3 protein eta
KSR
PI3K
p85and uPAR
Show abstract