ENSG00000108953


Homo sapiens

Features
Gene ID: ENSG00000108953
  
Biological name :YWHAE
  
Synonyms : P62258 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon / YWHAE
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.3
Gene start: 1344272
Gene end: 1400378
  
Corresponding Affymetrix probe sets: 210317_s_at (Human Genome U133 Plus 2.0 Array)   210996_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464883
Ensembl peptide - ENSP00000461766
Ensembl peptide - ENSP00000466324
Ensembl peptide - ENSP00000264335
Ensembl peptide - ENSP00000458386
Ensembl peptide - ENSP00000460712
Ensembl peptide - ENSP00000461762
NCBI entrez gene - 7531     See in Manteia.
OMIM - 605066
RefSeq - XM_017025005
RefSeq - NM_006761
RefSeq - XM_005256784
RefSeq Peptide - NP_006752
swissprot - K7EM20
swissprot - B4DJF2
swissprot - P62258
swissprot - V9HW98
swissprot - I3L0W5
swissprot - K7EIT4
swissprot - I3L3T1
Ensembl - ENSG00000108953
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ywhae1ENSDARG00000006399Danio rerio
 YWHAEENSGALG00000002661Gallus gallus
 YwhaeENSMUSG00000020849Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
YWHAZ / P63104 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zetaENSG0000016492466
YWHAB / P31946 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein betaENSG0000016691364
YWHAQ / P27348 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein thetaENSG0000013430863
YWHAH / Q04917 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein etaENSG0000012824560
YWHAG / P61981 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gammaENSG0000017002760
SFN / P31947 / stratifinENSG0000017579358


Protein motifs (from Interpro)
Interpro ID Name
 IPR000308  14-3-3 protein
 IPR023409  14-3-3 protein, conserved site
 IPR023410  14-3-3 domain
 IPR036815  14-3-3 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0000165 MAPK cascade IDA
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0003064 regulation of heart rate by hormone NAS
 biological_processGO:0006605 protein targeting IEA
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0021762 substantia nigra development HEP
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0034605 cellular response to heat IDA
 biological_processGO:0035308 negative regulation of protein dephosphorylation IEA
 biological_processGO:0035329 hippo signaling TAS
 biological_processGO:0035556 intracellular signal transduction TAS
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process TAS
 biological_processGO:0046827 positive regulation of protein export from nucleus IDA
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IDA
 biological_processGO:0060306 regulation of membrane repolarization IDA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0086013 membrane repolarization during cardiac muscle cell action potential IC
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IC
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 biological_processGO:1900034 regulation of cellular response to heat TAS
 biological_processGO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
 biological_processGO:1901016 regulation of potassium ion transmembrane transporter activity IDA
 biological_processGO:1901020 negative regulation of calcium ion transmembrane transporter activity IDA
 biological_processGO:1902309 negative regulation of peptidyl-serine dephosphorylation IDA
 biological_processGO:1905913 negative regulation of calcium ion export across plasma membrane IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005871 kinesin complex IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane TAS
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0090724 central region of growth cone IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005246 calcium channel regulator activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015459 potassium channel regulator activity IDA
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0023026 MHC class II protein complex binding HDA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0050815 phosphoserine residue binding IPI
 molecular_functionGO:0051219 phosphoprotein binding IPI
 molecular_functionGO:0097110 scaffold protein binding IPI


Pathways (from Reactome)
Pathway description
Activation of BAD and translocation to mitochondria
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Signaling by Hippo
NADE modulates death signalling
Regulation of PLK1 Activity at G2/M Transition
Regulation of HSF1-mediated heat shock response
HSF1 activation
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases activate PKNs
TP53 Regulates Metabolic Genes
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
AURKA Activation by TPX2
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimers disease models
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000023 Inguinal hernia 
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 HP:0000098 Increased body height 
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000177 Abnormality of upper lip "An abnormality of the `upper lip` (FMA:59817)." [HPO:probinson]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000445 Broad nose 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000470 Short neck 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000960 Sacral dimple "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001339 Lissencephaly "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators]
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 HP:0001374 Congenital hip dislocation 
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 HP:0001510 Growth retardation 
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 HP:0001539 Omphalocele 
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 HP:0001561 Polyhydramnios 
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0008736 Hypoplasia of penis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000064300 NGFR / P08138 / nerve growth factor receptor  / reaction / complex
 ENSG00000057608 GDI2 / P50395 / GDP dissociation inhibitor 2  / reaction
 ENSG00000188419 CHM / P24386 / CHM, Rab escort protein 1  / reaction
 ENSG00000111737 RAB35 / Q15286 / RAB35, member RAS oncogene family  / reaction
 ENSG00000203668 CHML / P26374 / CHM like, Rab escort protein 2  / reaction
 ENSG00000203879 GDI1 / P31150 / GDP dissociation inhibitor 1  / reaction
 ENSG00000108953 YWHAE / P62258 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon  / complex
 ENSG00000158402 CDC25C / P30307 / cell division cycle 25C  / complex / reaction
 ENSG00000166681 BEX3 / Q00994 / brain expressed X-linked 3  / complex / reaction
 ENSG00000018408 WWTR1 / Q9GZV5 / WW domain containing transcription regulator 1  / complex / reaction
 ENSG00000119522 Q8TEH3 / DENND1A / DENN domain containing 1A  / complex / reaction
 ENSG00000134259 NGF / P01138 / nerve growth factor  / reaction / complex
 ENSG00000185122 HSF1 / Q00613 / heat shock transcription factor 1  / complex / reaction






 

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