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H-InvDB_8.3 released on March 26, 2013.
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H-Invitational ID: HIT000030416 Accession number: BC001440 Created date: 26-Mar-2013 Last modified: 26-Mar-2013
Definition: 14-3-3 protein epsilon.
 
 

Transcript original information
Accession number BC001440.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:1250 IMAGE:3139004
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (YWHAE) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (YWHAE);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 1774[bp] (No. of exon:6)[A:528 T:480 G:398 C:368]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Placenta, choriocarcinoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1744(+) Signal: 1725-1729(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0013397
Genomic location  G-integra Help Chromosome 17
Location 17p13.3
Position 1247844- 1303482
Strand -
Possible duplicated location(s) NA
Gene structure 6 exon(s)
Database links RefSeq NM_006761NR_024058
Ensembl ENST00000264335ENST00000414131ENST00000466227ENST00000469398ENST00000486241ENST00000489287ENST00000496706ENST00000498643
Entrez Gene Entrez Gene ID:7531
KEGG GENES KEGG GENES(7531)
GeneCard GeneCardYWHAE*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000039637
Predicted CDS 79..846;  255[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.739
Database links RefSeq NP_006752
UniProt E2QWD6P62258P62259P62260P62261P62262Q4R4J3Q5SS40Q5ZMT0
CCDS CCDS11001

Motif information
ORF

length(255),orf(79:846)
MDDREDLVYQAKLAEQAERYDEMVESMKKVAGMDVELTVEERNLLSVAYK
NVIGARRASWRIISSIEQKEENKGGEDKLKMIREYRQMVETELKLICCDI
LDVLDKHLIPAANTGESKVFYYKMKGDYHRYLAEFATGNDRKEAAENSLV
AYKAASDIAMTELPPTHPIRLGLALNFSVFYYEILNSPDRACRLAKAAFD
DAIAELDTLSEESYKDSTLIMQLLRDNLTLWTSDMQGDGEEQNKEALQDV
EDENQ*
a.a.
length
InterPro Name
length(234), motif(1:234) 234 IPR000308 14-3-3 protein [Family]
length(244), motif(2:245) 244 IPR000308 14-3-3 protein [Family]
length(247), motif(2:248) 247 IPR000308 14-3-3 protein [Family]
length(231), motif(3:233) 231 IPR000308 14-3-3 protein [Family]
length(234), motif(4:237) 234 IPR000308 14-3-3 protein [Family]
length(242), motif(4:245) 242 IPR000308 14-3-3 protein [Family]
length(30), motif(36:65) 30 IPR000308 14-3-3 protein [Family]
length(11), motif(42:52) 11 IPR000308 14-3-3 protein [Family]
length(25), motif(85:109) 25 IPR000308 14-3-3 protein [Family]
length(23), motif(116:138) 23 IPR000308 14-3-3 protein [Family]
length(27), motif(151:177) 27 IPR000308 14-3-3 protein [Family]
length(27), motif(178:204) 27 IPR000308 14-3-3 protein [Family]
length(30), motif(205:234) 30 IPR000308 14-3-3 protein [Family]
length(20), motif(214:233) 20 IPR000308 14-3-3 protein [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000030416
H-Inv cluster ID Locus viewHIX0013397
Accession number BC001440.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition 14-3-3 protein epsilon.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_006752)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
Gene family/group Gene family H-Inv gene family/group ID HIF0000119
Gene family/group name 14-3-3 protein (IPR000308).
Evidence motif (InterPro) ID IPR000308
Gene symbol/name HGNC symbol YWHAE
HGNC aliases NA
HGNC name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
DDBJ YWHAE
UniProt NA
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000039637
No. of interaction 147
Interaction partner(s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
BIND 12745;  12751;  12752;  182702;  24478;  297420;  300600; 
DIP 119791E;  175801E;  185332E;  44908E;  474E;  476E; 
MINT MINT-16661;  MINT-16662;  MINT-17206;  MINT-17309;  MINT-17310;  MINT-17311;  MINT-17312;  MINT-1785035;  MINT-18624;  MINT-18625;  MINT-18626;  MINT-18746;  MINT-19303;  MINT-19304;  MINT-19397;  MINT-1958547;  MINT-25123;  MINT-3373613;  MINT-47986;  MINT-48273;  MINT-48369;  MINT-49078;  MINT-49183;  MINT-51046;  MINT-51047;  MINT-51048;  MINT-51066;  MINT-51067;  MINT-67035;  MINT-67554;  MINT-7188321;  MINT-7188418;  MINT-7300139;  MINT-77981;  MINT-7899812;  MINT-7900157;  MINT-7947479;  MINT-8004866;  MINT-8005105;  MINT-8005112;  MINT-8005139;  MINT-8005150;  MINT-8005157;  MINT-8005168;  MINT-8005175;  MINT-8005462;  MINT-8005469;  MINT-8005706;  MINT-8005857;  MINT-8005913;  MINT-8006004;  MINT-8006198;  MINT-8006361;  MINT-8006448;  MINT-8006742;  MINT-8007163;  MINT-8007186;  MINT-8007254;  MINT-8007424;  MINT-8007923;  MINT-8008017;  MINT-8008077;  MINT-8008092;  MINT-8008218;  MINT-8008314;  MINT-8008465;  MINT-8008665;  MINT-8008672;  MINT-8008686;  MINT-8008886;  MINT-8009303;  MINT-8009461;  MINT-8009509;  MINT-8009523; 
HPRD 00146;  00215;  00241;  00242;  00243;  00305;  00307;  00353;  00536;  00579;  00615;  00708;  00778;  00881;  00886;  00932;  00943;  01020;  01044;  01069;  01178;  01227;  01264;  01265;  01311;  01313;  01320;  01469;  01659;  01809;  01818;  01821;  01850;  01857;  01899;  02005;  02291;  02316;  02405;  02409;  02511;  02533;  02545;  02799;  02867;  02878;  02910;  02911;  03148;  03183;  03184;  03333;  03337;  03465;  03696;  03720;  03904;  03965;  04061;  04068;  04082;  04155;  04184;  04342;  04409;  04451;  05059;  05156;  05253;  05457;  05496;  05570;  05594;  05610;  05639;  05813;  05866;  05944;  06340;  06440;  07196;  07353;  07362;  07601;  08909;  08928;  08950;  09246;  09285;  09301;  09315;  09564;  09580;  09676;  10068;  10138;  10407;  10458;  10556;  10682;  10808;  11070;  11121;  11279;  11822;  11906;  11907;  11909;  11912;  12473;  13151;  13626;  15121;  15237;  15244;  16246;  16489;  19599; 
IntAct EBI-3913827;  EBI-3452747;  EBI-3452719;  EBI-3909965;  EBI-3894865;  EBI-3452740;  EBI-3452733;  EBI-3454013;  EBI-3452876;  EBI-3453496;  EBI-3895179;  EBI-3895195;  EBI-4311334;  EBI-3050465;  EBI-3964621;  EBI-3453044;  EBI-3929760;  EBI-3927302;  EBI-3452933;  EBI-3452919;  EBI-3452894;  EBI-3452908;  EBI-3452901;  EBI-3934432;  EBI-3453030;  EBI-3934182;  EBI-3452989;  EBI-3452940;  EBI-3952746;  EBI-3452954;  EBI-3452947;  EBI-3936196;  EBI-3934442;  EBI-3453005;  EBI-3951698;  EBI-3936387;  EBI-3951116;  EBI-3951158;  EBI-3951004;  EBI-757444;  EBI-593829;  EBI-540704;  EBI-476348;  EBI-702413;  EBI-755740;  EBI-702075;  EBI-3452682;  EBI-3452961;  EBI-2461111;  EBI-2211497;  EBI-1181753;  EBI-2512708;  EBI-3452829;  EBI-3048562;  EBI-3452968;  EBI-361791;  EBI-3452822;  EBI-3894854;  EBI-3894818;  EBI-1181636;  EBI-2336903;  EBI-1206036;  EBI-1181766;  EBI-1181492;  EBI-365629;  EBI-3452869;  EBI-1206005;  EBI-3452796;  EBI-2461132;  EBI-2461119;  EBI-1106566;  EBI-1106561;  EBI-1205978;  EBI-3244270;  EBI-3452789;  EBI-3452803;  EBI-3646827;  EBI-3452848;  EBI-1181773;  EBI-364030;  EBI-3452815;  EBI-3452698;  EBI-1181800;  EBI-3438007;  EBI-3622897;  EBI-363718;  EBI-1644009;  EBI-1237540;  EBI-2564373;  EBI-3046676;  EBI-2461095;  EBI-2461090;  EBI-2984710;  EBI-1642094;  EBI-2893273;  EBI-1387838;  EBI-2893399;  EBI-2433997;  EBI-1642567;  EBI-1567451;  EBI-2336927;  EBI-1643985;  EBI-2336912; 
Database links RefSeq NM_006761NR_024058
Ensembl ENST00000264335ENST00000414131ENST00000466227ENST00000469398ENST00000486241ENST00000489287ENST00000496706ENST00000498643
Entrez Gene Entrez Gene ID:7531
KEGG GENES KEGG GENES(7531)
GeneCard GeneCardYWHAE*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links 14-3-3 protein (IPR000308). Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function protein domain specific binding (GO:0019904); 

Subcellular localization information  Last modified:26-Mar-2013
WoLF PSORT cytosol;  nuclear; 
Target P Other
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:26-Mar-2013
Start End PDB_ID E-value Identity Coverage SCOP_ID
25 240 3efzA1 5e-92 23.6 208/216 a.118.7.1
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:26-Mar-2013
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene NA
Affymetrix
GeneChip
HG-Focus 213655_at; 
HG-U133 210317_s_at;  210996_s_at;  213655_at; 
HG-U133A 210317_s_at;  210996_s_at;  213655_at; 
HG-U133A_2 210317_s_at;  210996_s_at;  213655_at; 
HG-U133B NA
HG-U133_Plus_2 210317_s_at;  210996_s_at;  213655_at; 
HG-U95 1011_s_at; 
HG-U95A 1011_s_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3003425;  3004566;  3004567;  3004568;  3004569;  3004570;  3052111;  3052113;  3705774;  3705803;  3713379;  3714450;  3719033;  3740129;  3740131;  3740132;  3740133;  3740147;  3740157;  3748367;  3749256;  3752151;  3752153;  4039948;  4040076; 
HuGeneFL U54778_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P72285; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P72285; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:26-Mar-2013
Disease relation Disease name: Miller-Dieker lissencephaly (247200); 
Related information in OMIM OMIM ID:  605066;  Title: TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
Co-localized orphan diseases OMIM ID:  215500601202605779605809608631609432610185611302612576
Disease related mutation MutationView:  605066
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(7531)
Disease Entrez Gene ID:(7531)
Substance Entrez Gene ID:(7531)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
97 .. 97 C/G rs11552915 + CDS Nonsynonymous[Leu7Val]
203 .. 203 G/A rs11552917 + CDS Nonsynonymous[Arg42Lys]
210 .. 210 C/A/T rs11266764 + CDS
285 .. 285 A/G rs11552916 + CDS Synonymous[Lys69Lys]
360 .. 360 G/A rs34137556 - CDS Synonymous[Lys94Lys]
469 .. 469 T/C rs113879590 - CDS Nonsynonymous[Tyr131His]
874 .. 874 C/T rs71357188 - 3'UTR
985 ^ 986 -/T rs57951313 - 3'UTR
986 .. 986 T/G rs80174650 - 3'UTR
1047 .. 1047 T/G rs181444 - 3'UTR
1097 .. 1097 A/G rs112459758 - 3'UTR
1101 .. 1101 A/G rs112991360 - 3'UTR
1122 .. 1122 G/A rs7266 + 3'UTR
1123 .. 1123 T/G rs191652 - 3'UTR
1126 .. 1126 C/T rs112066507 - 3'UTR
1132 .. 1132 C/T rs112602907 - 3'UTR
1195 .. 1195 A/C rs113698592 - 3'UTR
1196 .. 1196 C/T rs9393 + 3'UTR
1201 .. 1201 G/A rs112943938 - 3'UTR
1315 .. 1315 T/G rs1804637 + 3'UTR
1406 .. 1406 G/A rs1804636 + 3'UTR
1626 .. 1626 T/G rs15219 + 3'UTR
1645 .. 1645 C/A rs1804635 + 3'UTR
1648 .. 1648 G/A rs1804922 + 3'UTR
1733 .. 1733 A/G rs3751905 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer