H-InvDB x AHG DB
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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: 20-Apr-2012
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_006761;  NR_024058; 
Ensembl ENST00000264335;  ENST00000414131;  ENST00000466227;  ENST00000469398;  ENST00000486241;  ENST00000489287;  ENST00000496706;  ENST00000498643; 
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 E2QWD6;  P62258;  P62259;  P62260;  P62261;  P62262;  Q4R4J3;  Q5SS40;  Q5ZMT0; 
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 29
Interaction partner(s) HIP000021383;  HIP000026960;  HIP000026960;  HIP000027257;  HIP000028796;  HIP000028796;  HIP000029856;  HIP000031955;  HIP000034898;  HIP000034948;  HIP000037347;  HIP000039538;  HIP000039722;  HIP000053968;  HIP000088759;  HIP000090010;  HIP000090010;  HIP000095598;  HIP000107541;  HIP000131947;  HIP000133424;  HIP000144654;  HIP000167105;  HIP000167105;  HIP000199758;  HIP000253787;  HIP000338468;  HIP000381880;  HIP000435860; 
BIND 153857;  153915;  153921;  153933; 
DIP 103162E;  132730E;  59479E;  72246E; 
MINT MINT-2844455;  MINT-2844482;  MINT-2844512;  MINT-2844533;  MINT-2844569;  MINT-2844595;  MINT-2844621;  MINT-2844647;  MINT-2844673;  MINT-2844699;  MINT-2844725;  MINT-2844754;  MINT-2844789;  MINT-2844810;  MINT-2879967;  MINT-2879989;  MINT-8207313; 
HPRD 00837;  01487;  02917;  04686;  05119;  06692;  06771;  08912;  08928;  10366;  15777;  16159;  17835;  17943; 
IntAct EBI-3932477;  EBI-3932467;  EBI-3509623;  EBI-2000925;  EBI-2829069;  EBI-3932015;  EBI-3911067;  EBI-3918310; 
Database links RefSeq NM_006761;  NR_024058; 
Ensembl ENST00000264335;  ENST00000414131;  ENST00000466227;  ENST00000469398;  ENST00000486241;  ENST00000489287;  ENST00000496706;  ENST00000498643; 
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:20-Apr-2012
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:20-Apr-2012
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:20-Apr-2012
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:20-Apr-2012
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:  215500;  601202;  605779;  605809;  608631;  609432;  610185;  611302;  612576; 
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 Viewer;  LEGENDALEGENDA; 

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;