H-InvDB_8.3 released on March 26, 2013.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
H-Inv gene family/group (HIF)
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Chromosome number
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Definition*
Data source ID
---
CCDS ID
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H-Invitational ID:
HIT000029410
Accession number:
BC000179
Created date:
26-Mar-2013
Last modified:
20-Apr-2012
Definition:
14-3-3 protein epsilon.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
BC000179.2
CAGE tag ID
NA
EST ID
NA
Clone Number
MGC:5005 IMAGE:2900956
Experimental resources
NBRC
;
HGPD
;
Antibody (YWHAE)
;
Catalog (YWHAE)
;
Sequence data provider
Provider:
MGC/NCI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
1723[bp] (No. of exon:6)[A:508 T:474 G:384 C:357]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
Placenta, choriocarcinoma
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
Site: 1707(+) Signal: 1695-1699(+)
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
NA
Transcript quality feature
NA
Notes
NA
GTCGCGCAGACCCTGCCGGAGCCGCTGCCGCTATGGATGATCGAGAGGAT CTGGTGTACCAGGCGAAGCTGGCCGAGCAGGCTGAGCGATACGACGAAAT GGTGGAGTCAATGAAGAAAGTAGCAGGGATGGATGTGGAGCTGACAGTTG AAGAAAGAAACCTCCTATCTGTTGCATATAAGAATGTGATTGGAGCTAGA AGAGCCTCCTGGAGAATAATCAGCAGCATTGAACAGAAAGAAGAAAACAA GGGAGGAGAAGACAAGCTAAAAATGATTCGGGAATATCGGCAAATGGTTG AGACTGAGCTAAAGTTAATCTGTTGTGACATTCTGGATGTACTGGACAAA CACCTCATTCCAGCAGCTAACACTGGCGAGTCCAAGGTTTTCTATTATAA AATGAAAGGGGACTACCACAGGTATCTGGCAGAATTTGCCACAGGAAACG ACAGGAAGGAGGCTGCGGAGAACAGCCTAGTGGCTTATAAAGCTGCTAGT GATATTGCAATGACAGAACTTCCACCAACGCATCCTATTCGCTTAGGTCT TGCTCTCAATTTTTCCGTATTCTACTACGAAATTCTTAATTCCCCTGACC GTGCCTGCAGGTTGGCAAAAGCAGCTTTTGATGATGCAATTGCAGAACTG GATACGCTGAGTGAAGAAAGCTATAAGGACTCTACACTTATCATGCAGTT GTTACGTGATAATCTGACACTATGGACTTCAGACATGCAGGGTGACGGTG AAGAGCAGAATAAAGAAGCGCTGCAGGACGTGGAAGACGAAAATCAGTGA GACATAAGCCAACAAGAGAAACCATCTCTGACCACCCCCTCCTCCCCATC CCACCCTTTGGAAACTCCCCATTGTCACTGAGAACCACCAAATCTGACTT TTACATTTGGTCTCAGAATTTAGGTTCCTGCCCTGTTGGTTTTTTTTTTT TTTTTTTTAAACAGTTTTCAAAAGTTCTTAAAGGCAAGAGTGAATTTCTG TGGATTTTACTGGTCCCAGCTTTTAGGTTCTTTAAGACACTAACAGGACT ACATAGAGGCTTTTTCAGCATTACTGTGTCGTCTCCGTGCCAGATGTGGC AAGATCACCATTAGCAAATGGAAATTACATTTGAAAGCCATTAGACTTAC AGGTGATGCAAGCATCTAAGAGAGAGGTTAATCACACTATAGAGGCATAA GTGGTATCAGTTTTCATTTTTCTAATTGTTTAAACTGTGTTTTATACCAG TGTTTGCAAGTAATTGGGTGTTAGCTTGAGATGGTTAAAGGTGGTTTGGG GAGGGACTTCGTTGTAATGGTTTTGCTGTAAAAAATGTTTCCAACTCCGC TGAAATGTTGCTGAAAAGCATGGTGCTGGTAACAGTTCAACAATCCGTGG CTGCTCATTCTTGCCTACTTTACTCTCCCACTGAAGCAGGTTAGCGTTGA AGGTGGTATGGAAAAGCCTGCATGCCTGTTCAATTCTTTTGTTTCTTCTC CTTCCCCCTCCCCCTACCTCCTTCCCCTCACTCCTCCCCTCCTTCGCTCG CTCAACCTCTTTTGTTCAGTATGTGTAACTTGAAGCTAATTTGTACTACT GGATATCTGACTGGAGCCACAGATACAGAATCTGTATTGTTCTTACTGAA ACACAGCATGGAATTAACATTAAACTTAAATAAAACAAACCTAAATTAAA AATGCCAAAAAAAAAAAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0013397
Genomic location
Chromosome
17
Location
17p13.3
Position
1247835- 1303436
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
YWHAE
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000039637
Predicted CDS
33..800; 255[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.739
Database links
RefSeq
NP_006752
;
UniProt
E2QWD6
;
P62258
;
P62259
;
P62260
;
P62261
;
P62262
;
Q4R4J3
;
Q5SS40
;
Q5ZMT0
;
CCDS
CCDS11001
;
MDDREDLVYQAKLAEQAERYDEMVESMKKVAGMDVELTVEERNLLSVAYK NVIGARRASWRIISSIEQKEENKGGEDKLKMIREYRQMVETELKLICCDI LDVLDKHLIPAANTGESKVFYYKMKGDYHRYLAEFATGNDRKEAAENSLV AYKAASDIAMTELPPTHPIRLGLALNFSVFYYEILNSPDRACRLAKAAFD DAIAELDTLSEESYKDSTLIMQLLRDNLTLWTSDMQGDGEEQNKEALQDV EDENQ*
Motif information
a.a.
length
InterPro
Name
234
IPR000308
14-3-3 protein [Family]
247
IPR000308
14-3-3 protein [Family]
244
IPR000308
14-3-3 protein [Family]
231
IPR000308
14-3-3 protein [Family]
234
IPR000308
14-3-3 protein [Family]
242
IPR000308
14-3-3 protein [Family]
30
IPR000308
14-3-3 protein [Family]
11
IPR000308
14-3-3 protein [Family]
25
IPR000308
14-3-3 protein [Family]
23
IPR000308
14-3-3 protein [Family]
27
IPR000308
14-3-3 protein [Family]
27
IPR000308
14-3-3 protein [Family]
30
IPR000308
14-3-3 protein [Family]
20
IPR000308
14-3-3 protein [Family]
Gene function information
H-Inv ID
HIT000029410
H-Inv cluster ID
HIX0013397
Accession number
BC000179.2
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
14-3-3 protein epsilon.
Similarity category
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
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)
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
YWHAE
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
14-3-3 protein (IPR000308).
Similarity Search Tool;
TACT
;
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;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (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
Gene expression information
Last modified:20-Apr-2012
Tissue-specific expression
NA
Probe
information
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; 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-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
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)
Gene name
Entrez Gene ID:(7531)
Disease
Entrez Gene ID:(7531)
Substance
Entrez Gene ID:(7531)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
51 .. 51
C/G
rs11552915
+
CDS
Nonsynonymous[Leu7Val]
157 .. 157
G/A
rs11552917
+
CDS
Nonsynonymous[Arg42Lys]
164 .. 164
C/A/T
rs11266764
+
CDS
239 .. 239
A/G
rs11552916
+
CDS
Synonymous[Lys69Lys]
314 .. 314
G/A
rs34137556
-
CDS
Synonymous[Lys94Lys]
423 .. 423
T/C
rs113879590
-
CDS
Nonsynonymous[Tyr131His]
828 .. 828
C/T
rs71357188
-
3'UTR
939 ^ 940
-/T
rs57951313
-
3'UTR
940 .. 940
T/G
rs80174650
-
3'UTR
1001 .. 1001
T/G
rs181444
-
3'UTR
1051 .. 1051
A/G
rs112459758
-
3'UTR
1055 .. 1055
A/G
rs112991360
-
3'UTR
1076 .. 1076
G/A
rs7266
+
3'UTR
1077 .. 1077
T/G
rs191652
-
3'UTR
1080 .. 1080
C/T
rs112066507
-
3'UTR
1086 .. 1086
C/T
rs112602907
-
3'UTR
1149 .. 1149
A/C
rs113698592
-
3'UTR
1150 .. 1150
C/T
rs9393
+
3'UTR
1155 .. 1155
G/A
rs112943938
-
3'UTR
1269 .. 1269
T/G
rs1804637
+
3'UTR
1360 .. 1360
G/A
rs1804636
+
3'UTR
1580 .. 1580
T/G
rs15219
+
3'UTR
1599 .. 1599
C/A
rs1804635
+
3'UTR
1602 .. 1602
G/A
rs1804922
+
3'UTR
1687 .. 1687
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
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene;
Repeat Mask Viewer
;