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2024-04-26 10:22:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006761 1827 bp mRNA linear PRI 02-JUN-2013
DEFINITION Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase
activation protein, epsilon polypeptide (YWHAE), transcript variant
1, mRNA.
ACCESSION NM_006761 XM_935509
VERSION NM_006761.4 GI:195546907
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1827)
AUTHORS Molzan,M. and Ottmann,C.
TITLE Subcellular localization of full-length human myeloid leukemia
factor 1 (MLF1) is independent of 14-3-3 proteins
JOURNAL Cell. Mol. Biol. Lett. 18 (1), 137-148 (2013)
PUBMED 23271436
REMARK GeneRIF: The subcellular localization of full-length human MLF1 is
14-3-3epsilon-independent.
REFERENCE 2 (bases 1 to 1827)
AUTHORS Chang,B., Gorbea,C., Lezin,G., Li,L., Shan,L., Sakai,N., Kogaki,S.,
Otomo,T., Okinaga,T., Hamaoka,A., Yu,X., Hata,Y., Nishida,N.,
Yost,H.J., Bowles,N.E., Brunelli,L. and Ichida,F.
TITLE 14-3-3epsilon gene variants in a Japanese patient with left
ventricular noncompaction and hypoplasia of the corpus callosum
JOURNAL Gene 515 (1), 173-180 (2013)
PUBMED 23266643
REMARK GeneRIF: the -458G>T YWHAE variant contributes to the abnormal
myocardial morphogenesis characteristic of LVNC as well as abnormal
brain development, and implicate YWHAE as a novel candidate gene in
pediatric cardiomyopathies.
REFERENCE 3 (bases 1 to 1827)
AUTHORS Butt,A.Q., Ahmed,S., Maratha,A. and Miggin,S.M.
TITLE 14-3-3epsilon and 14-3-3sigma inhibit Toll-like receptor
(TLR)-mediated proinflammatory cytokine induction
JOURNAL J. Biol. Chem. 287 (46), 38665-38679 (2012)
PUBMED 22984265
REMARK GeneRIF: 14-3-3epsilon and 14-3-3sigma inhibit Toll-like receptor
(TLR)-mediated proinflammatory cytokine induction
REFERENCE 4 (bases 1 to 1827)
AUTHORS Liu,J., Li,Z.Q., Li,J.Y., Li,T., Wang,T., Li,Y., Xu,Y.F.,
Feng,G.Y., Shi,Y.Y. and He,L.
TITLE Polymorphisms and haplotypes in the YWHAE gene increase
susceptibility to bipolar disorder in Chinese Han population
JOURNAL J Clin Psychiatry 73 (10), E1276-E1282 (2012)
PUBMED 23140658
REMARK GeneRIF: results suggest that YWHAE does play a major role in
bipolar disorder in the Han Chinese population.
REFERENCE 5 (bases 1 to 1827)
AUTHORS Capra,V., Mirabelli-Badenier,M., Stagnaro,M., Rossi,A., Tassano,E.,
Gimelli,S. and Gimelli,G.
TITLE Identification of a rare 17p13.3 duplication including the BHLHA9
and YWHAE genes in a family with developmental delay and
behavioural problems
JOURNAL BMC Med. Genet. 13, 93 (2012)
PUBMED 23035971
REMARK GeneRIF: YWHAE gene contribute to the phenotype of small 17p13.3
chromosomal duplication in Miller-Dieker syndrome
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 1827)
AUTHORS Jin,D.Y., Lyu,M.S., Kozak,C.A. and Jeang,K.T.
TITLE Function of 14-3-3 proteins
JOURNAL Nature 382 (6589), 308 (1996)
PUBMED 8684458
REFERENCE 7 (bases 1 to 1827)
AUTHORS Conklin,D.S., Galaktionov,K. and Beach,D.
TITLE 14-3-3 proteins associate with cdc25 phosphatases
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (17), 7892-7896 (1995)
PUBMED 7644510
REFERENCE 8 (bases 1 to 1827)
AUTHORS Jones,D.H., Ley,S. and Aitken,A.
TITLE Isoforms of 14-3-3 protein can form homo- and heterodimers in vivo
and in vitro: implications for function as adapter proteins
JOURNAL FEBS Lett. 368 (1), 55-58 (1995)
PUBMED 7615088
REFERENCE 9 (bases 1 to 1827)
AUTHORS Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
TITLE Cell cycle regulation of the activity and subcellular localization
of Plk1, a human protein kinase implicated in mitotic spindle
function
JOURNAL J. Cell Biol. 129 (6), 1617-1628 (1995)
PUBMED 7790358
REFERENCE 10 (bases 1 to 1827)
AUTHORS Detlav,I.E.
TITLE [Anti-brain antibodies in serum and cerebrospinal fluid following
cranio-cerebral trauma]
JOURNAL Zh Nevropatol Psikhiatr Im S S Korsakova 76 (3), 344-348 (1976)
PUBMED 1266503
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC365395.1 and AY883089.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 5, 2008 this sequence version replaced gi:34304385.
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].
Transcript Variant: This variant (1) represents the protein-coding
transcript.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK128785.1, BC001440.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-548 DC365395.1 2-549
549-1827 AY883089.1 509-1787
FEATURES Location/Qualifiers
source 1..1827
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.3"
gene 1..1827
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/note="tyrosine 3-monooxygenase/tryptophan 5-monooxygenase
activation protein, epsilon polypeptide"
/db_xref="GeneID:7531"
/db_xref="HGNC:12851"
/db_xref="HPRD:05457"
/db_xref="MIM:605066"
exon 1..216
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/inference="alignment:Splign:1.39.8"
misc_feature 45..47
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/note="upstream in-frame stop codon"
CDS 153..920
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/note="mitochondrial import stimulation factor L subunit;
protein kinase C inhibitor protein-1; tyrosine
3/tryptophan 5 -monooxygenase activation protein, epsilon
polypeptide; 14-3-3 epsilon"
/codon_start=1
/product="14-3-3 protein epsilon"
/protein_id="NP_006752.1"
/db_xref="GI:5803225"
/db_xref="CCDS:CCDS11001.1"
/db_xref="GeneID:7531"
/db_xref="HGNC:12851"
/db_xref="HPRD:05457"
/db_xref="MIM:605066"
/translation="
MDDREDLVYQAKLAEQAERYDEMVESMKKVAGMDVELTVEERNLLSVAYKNVIGARRASWRIISSIEQKEENKGGEDKLKMIREYRQMVETELKLICCDILDVLDKHLIPAANTGESKVFYYKMKGDYHRYLAEFATGNDRKEAAENSLVAYKAASDIAMTELPPTHPIRLGLALNFSVFYYEILNSPDRACRLAKAAFDDAIAELDTLSEESYKDSTLIMQLLRDNLTLWTSDMQGDGEEQNKEALQDVEDENQ
"
misc_feature 153..155
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylmethionine; propagated from
UniProtKB/Swiss-Prot (P62258.1); acetylation site"
misc_feature 162..851
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/note="14-3-3 epsilon, an isoform of 14-3-3 protein;
Region: 14-3-3_epsilon; cd10020"
/db_xref="CDD:206757"
misc_feature order(168..170,180..182,189..194,198..200,228..230,
327..329,336..338,348..350,393..398,402..407,414..419,
426..428)
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/note="putative dimer interface [polypeptide binding];
other site"
/db_xref="CDD:206757"
misc_feature order(300..302,321..323,540..545,666..668,675..680,
687..689,696..701,807..812,819..821,831..833,840..845)
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/note="peptide binding site [polypeptide binding]; other
site"
/db_xref="CDD:206757"
misc_feature 300..302
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P62258.1); acetylation site"
misc_feature 321..323
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="Interaction with phosphoserine on interacting
protein; propagated from UniProtKB/Swiss-Prot (P62258.1);
other site"
misc_feature 357..359
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P62258.1); acetylation site"
misc_feature 504..506
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P62258.1); acetylation site"
misc_feature 519..521
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P62258.1); acetylation site"
misc_feature 540..542
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="Interaction with phosphoserine on interacting
protein; propagated from UniProtKB/Swiss-Prot (P62258.1);
other site"
misc_feature 780..782
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P62258.1); phosphorylation site"
variation 171
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="c"
/replace="g"
/db_xref="dbSNP:11552915"
exon 217..416
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/inference="alignment:Splign:1.39.8"
variation 277
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="g"
/db_xref="dbSNP:11552917"
variation 284
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11266764"
STS 311..420
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="D17S1499E"
/db_xref="UniSTS:151704"
variation 359
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="g"
/db_xref="dbSNP:11552916"
exon 417..523
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/inference="alignment:Splign:1.39.8"
exon 524..730
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/inference="alignment:Splign:1.39.8"
STS 549..820
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="RH70591"
/db_xref="UniSTS:88866"
exon 731..867
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/inference="alignment:Splign:1.39.8"
exon 868..1827
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/inference="alignment:Splign:1.39.8"
STS 940..1062
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="RH104444"
/db_xref="UniSTS:83931"
STS 1007..1734
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="YWHAE__1220"
/db_xref="UniSTS:277870"
variation 1195
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7266"
variation 1269
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9393"
STS 1273..1427
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="RH47135"
/db_xref="UniSTS:70855"
variation 1388
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1804637"
STS 1452..1573
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="STS-T60849"
/db_xref="UniSTS:2195"
STS 1460..1552
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="D17S1582"
/db_xref="UniSTS:152394"
variation 1479
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1804636"
STS 1523..1709
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="G19934"
/db_xref="UniSTS:20584"
STS 1523..1709
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/standard_name="RH66862"
/db_xref="UniSTS:85955"
variation 1699
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="g"
/replace="t"
/db_xref="dbSNP:15219"
variation 1718
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1804635"
variation 1721
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1804922"
polyA_signal 1788..1793
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
polyA_signal 1798..1803
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
variation 1806
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
/replace="a"
/replace="g"
/db_xref="dbSNP:3751905"
polyA_site 1827
/gene="YWHAE"
/gene_synonym="14-3-3E; KCIP-1; MDCR; MDS"
ORIGIN
tagagctgagcagttgtccgcgtgcgcaggcggaagtcccggattgaggcgccgccatttttgctgcccggacgcggagcgagaggctgagagagtcggagacactatccgcttccatccgtcgcgcagaccctgccggagccgctgccgctatggatgatcgagaggatctggtgtaccaggcgaagctggccgagcaggctgagcgatacgacgaaatggtggagtcaatgaagaaagtagcagggatggatgtggagctgacagttgaagaaagaaacctcctatctgttgcatataagaatgtgattggagctagaagagcctcctggagaataatcagcagcattgaacagaaagaagaaaacaagggaggagaagacaagctaaaaatgattcgggaatatcggcaaatggttgagactgagctaaagttaatctgttgtgacattctggatgtactggacaaacacctcattccagcagctaacactggcgagtccaaggttttctattataaaatgaaaggggactaccacaggtatctggcagaatttgccacaggaaacgacaggaaggaggctgcggagaacagcctagtggcttataaagctgctagtgatattgcaatgacagaacttccaccaacgcatcctattcgcttaggtcttgctctcaatttttccgtattctactacgaaattcttaattcccctgaccgtgcctgcaggttggcaaaagcagcttttgatgatgcaattgcagaactggatacgctgagtgaagaaagctataaggactctacacttatcatgcagttgttacgtgataatctgacactatggacttcagacatgcagggtgacggtgaagagcagaataaagaagcgctgcaggacgtggaagacgaaaatcagtgagacataagccaacaagagaaaccatctctgaccaccccctcctccccatcccaccctttggaaactccccattgtcactgagaaccaccaaatctgacttttacatttggtctcagaatttaggttcctgccctgttggttttttttttttttttttaaacagttttcaaaagttcttaaaggcaagagtgaatttctgtggattttactggtcccagcttttaggttctttaagacactaacaggactacatagaggctttttcagcattactgtgtcgtctccgtgccagatgtggcaagatcaccattagcaaatggaaattacatttgaaagccattagacttataggtgatgcaagcatctaagagagaggttaatcacactatagaggcataagtggtatcagttttcatttttctaattgtttaaactgtgttttataccagtgtttgcaagtaattgggtgttagcttgagatggttaaaggtggtttggggagggacttcgttgtaatggttttgctgtaaaaaatgtttccaactccgctgaaatgttgctgaaaagcatggtgctggtaacagttcaacaatccgtggctgctcattcttgcctactttactctcccactgaagcaggttagcgttgaaggtggtatggaaaagcctgcatgcctgttcaattcttttgtttcttctccttccccctccccctacctccttcccctcactcctcccctccttcgctcgctcaacctcttttgttcagtatgtgtaacttgaagctaatttgtactactggatatctgactggagccacagatacagaatctgtattgttcttactgaaacacagcatggaattaacattaaacttaaataaaacaaacctaaattaaaaatgccaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7531 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:7531 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI
GeneID:7531 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IEA
GeneID:7531 -> Molecular function: GO:0032403 [protein complex binding] evidence: IEA
GeneID:7531 -> Molecular function: GO:0042826 [histone deacetylase binding] evidence: IPI
GeneID:7531 -> Molecular function: GO:0050815 [phosphoserine binding] evidence: IPI
GeneID:7531 -> Molecular function: GO:0051219 [phosphoprotein binding] evidence: IPI
GeneID:7531 -> Biological process: GO:0000086 [G2/M transition of mitotic cell cycle] evidence: TAS
GeneID:7531 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:7531 -> Biological process: GO:0001764 [neuron migration] evidence: IEA
GeneID:7531 -> Biological process: GO:0006605 [protein targeting] evidence: IEA
GeneID:7531 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:7531 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:7531 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:7531 -> Biological process: GO:0021766 [hippocampus development] evidence: IEA
GeneID:7531 -> Biological process: GO:0021987 [cerebral cortex development] evidence: IEA
GeneID:7531 -> Biological process: GO:0035308 [negative regulation of protein dephosphorylation] evidence: IEA
GeneID:7531 -> Biological process: GO:0035329 [hippo signaling cascade] evidence: TAS
GeneID:7531 -> Biological process: GO:0035556 [intracellular signal transduction] evidence: TAS
GeneID:7531 -> Biological process: GO:0043281 [regulation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: TAS
GeneID:7531 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
GeneID:7531 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: TAS
GeneID:7531 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:7531 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS
GeneID:7531 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:7531 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:7531 -> Cellular component: GO:0005871 [kinesin complex] evidence: IEA
GeneID:7531 -> Cellular component: GO:0030659 [cytoplasmic vesicle membrane] evidence: TAS
GeneID:7531 -> Cellular component: GO:0042470 [melanosome] evidence: IEA
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