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: HIT000218087 Accession number: U12535 Created date: 26-Mar-2013 Last modified: 20-Apr-2012
Definition: Epidermal growth factor receptor kinase substrate 8.
 
 

Transcript original information
Accession number U12535.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (EPS8) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (EPS8);
Sequence data provider NA
Annotation project NA
Length of cDNA 3832[bp] (No. of exon:21)[A:1171 T:1040 G:840 C:781]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
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 HIX0010464
Genomic location  G-integra Help Chromosome 12
Location 12p12.3
Position 15773098- 15942282
Strand -
Possible duplicated location(s) NA
Gene structure 21 exon(s)
Database links RefSeq NM_004447; 
Ensembl ENST00000281172;  ENST00000508018;  ENST00000535734;  ENST00000535752;  ENST00000536793;  ENST00000536956;  ENST00000540613;  ENST00000541465;  ENST00000542903;  ENST00000543223;  ENST00000543363;  ENST00000543468;  ENST00000543523;  ENST00000543612;  ENST00000544064;  ENST00000545610;  ENST00000546261;  ENST00000546311; 
Entrez Gene Entrez Gene ID:2059; 
KEGG GENES KEGG GENES(2059); 
GeneCard GeneCardEPS8;  *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 HIP000079900
Predicted CDS 210..2678;  822[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.73
Database links RefSeq NP_004438; 
UniProt Q12929; 
CCDS CCDS31753; 

Motif information
ORF

length(822),orf(210:2678) MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKN YARDSVSSVSDISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKV WTQDMILQVDDRAVSLIDLESKNELENFPLNTIQHCQAVMHSCSYDSVLA LVCKEPTQNKPDLHLFQCDEVKANLISEDIESAISDSKGGKQKRRPDALR MISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWAADQGDFEKPR QYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKR KKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQ NPSAADLVHFLFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNG DERQLWMSLGGTWMKARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATME QDLYQLAESVANVAEHQRKQEIKRLSTEHSSVSEYHPADGYAFSSNIYTR GSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKYDFVARNNSEL SVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADP PYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKV PANITRQNSSSSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTI GRSAAQKKFHVPRQNVPVINITYDSTPEDVKTWLQSKGFNPVTVNSLGVL NGAQLFSLNKDELRTVCPEGARVYSQITVQKAALEDSSGSSELQEIMRRR QEKISAAASDSGVESFDEGSSH* 		a.a.
length		 InterPro Name
length(138), motif(60:197) 138 IPR006020 Phosphotyrosine interaction domain [Domain]
length(121), motif(63:183) 121 IPR011993 Pleckstrin homology-type [Domain]
length(131), motif(64:194) 131 IPR013625 Tensin phosphotyrosine-binding domain [Domain]
length(88), motif(517:604) 88 IPR001452 Src homology-3 domain [Domain]
length(60), motif(531:590) 60 IPR001452 Src homology-3 domain [Domain]
length(56), motif(534:589) 56 IPR001452 Src homology-3 domain [Domain]
length(43), motif(539:581) 43 IPR001452 Src homology-3 domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000218087
H-Inv cluster ID Locus viewHIX0010464
Accession number U12535.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Epidermal growth factor receptor kinase substrate 8.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_004438)  [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 HIF0001170
Gene family/group name Tensin phosphotyrosine-binding domain (IPR013625).
Evidence motif (InterPro) ID IPR013625
Gene symbol/name HGNC symbol EPS8
HGNC aliases NA
HGNC name epidermal growth factor receptor pathway substrate 8
DDBJ Eps8
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 HIP000079900
No. of interaction 18
Interaction partner(s) HIP000021316;  HIP000022704;  HIP000022886;  HIP000024064;  HIP000032964;  HIP000039484;  HIP000039647;  HIP000042709;  HIP000046703;  HIP000069593;  HIP000093442;  HIP000098118;  HIP000098140;  HIP000153999;  HIP000250883;  HIP000259706;  HIP000420501;  HIP000435860; 
BIND 94190; 
DIP NA
MINT NA
HPRD 00017;  00032;  00618;  01032;  01549;  02314;  03746;  07200;  07334;  08833;  08915;  09216;  09690;  12432; 
IntAct EBI-1247256; 
Database links RefSeq NM_004447; 
Ensembl ENST00000281172;  ENST00000508018;  ENST00000535734;  ENST00000535752;  ENST00000536793;  ENST00000536956;  ENST00000540613;  ENST00000541465;  ENST00000542903;  ENST00000543223;  ENST00000543363;  ENST00000543468;  ENST00000543523;  ENST00000543612;  ENST00000544064;  ENST00000545610;  ENST00000546261;  ENST00000546311; 
Entrez Gene Entrez Gene ID:2059; 
KEGG GENES KEGG GENES(2059); 
GeneCard GeneCardEPS8;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Human curated
Notes NA
Related H-InvDB links Tensin phosphotyrosine-binding domain (IPR013625). 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


Subcellular localization information  Last modified:20-Apr-2012
WoLF PSORT nuclear;  cytosol; 
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
60 173 2cy4A1 3e-31 44.7 114/129 b.55.1.2
533 592 1aojA 2e-23 90.0 60/60 b.34.2.1
709 785 1sxdA 1e-04 15.6 77/91 a.60.1.1
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 202609_at; 
HG-U133 202609_at; 
HG-U133A 202609_at; 
HG-U133A_2 202609_at; 
HG-U133B NA
HG-U133_Plus_2 202609_at; 
HG-U95 1467_at;  73252_at; 
HG-U95A 1467_at; 
HG-U95B NA
HG-U95C NA
HG-U95D 73252_at; 
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3406414;  3406438;  3445909;  3445910;  3445911;  3445912;  3445914;  3445915;  3445918;  3445919;  3445923;  3445924;  3445925;  3445926;  3445927;  3445931;  3445932;  3445933;  3445934;  3445938;  3445939;  3445940;  3445941;  3445942;  3445943;  3445946;  3445947;  3445964; 
HuGeneFL U12535_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P136347; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P136347; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator; 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:20-Apr-2012
Disease relation Disease name:NA
Related information in OMIM OMIM ID:NA Title:NA
Co-localized orphan diseases OMIM ID:  107920;  108600;  130080;  609113;  612372; 
Disease related mutation NA
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(2059)
Disease Entrez Gene ID:(2059)
Substance Entrez Gene ID:(2059)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

Evolutionary information  Evola Help Last modified:20-Apr-2012
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) AK166156 MGI:3562614 G-integraG-integra
Orthology Pongo sp. (Orangutan) CR861274 G-integraG-integra
Orthology Canis sp. (Dog) ENSCAFT00000020206 G-integraG-integra
Orthology Danio sp. (Zebrafish) ENSDART00000099381 G-integraG-integra
Orthology Pan sp. (Chimpanzee) ENSPTRT00000008744 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000175333 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001091077 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001366998 G-integraG-integra
Orthology Equus sp. (Horse) XM_001501834 G-integraG-integra
Orthology Rattus sp. (Rat) XM_232499 G-integraG-integra
Orthology Gallus sp. (Chicken) XM_416405 G-integraG-integra
Phylogenetic tree [View by ATV]
 Neighbor-joining (phb) 
Related H-InvDB links EvolaEvola;  dN/dS (under constraction); 

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
34 .. 34 G/C rs73317002 - 5'UTR
313 .. 313 A/G rs71532816 - CDS Nonsynonymous[His35Arg]
315 .. 315 G/T rs56750043 - CDS Nonsynonymous[Gly36Cys]
406 .. 406 G/A rs77383735 + CDS Nonsynonymous[Arg66His]
422 .. 422 T/C rs2230644 + CDS Synonymous[Thr71Thr]
487 .. 487 T/G rs112053540 - CDS Nonsynonymous[Leu93Trp]
726 .. 726 G/T rs78872942 + CDS Nonsynonymous[Ala173Ser]
766 .. 766 A/C rs12829975 - CDS Nonsynonymous[Asp186Ala]
790 .. 790 G/A rs12824115 - CDS Nonsynonymous[Arg194Lys]
1064 .. 1064 A/C rs71532817 - CDS Synonymous[Thr285Thr]
1084 .. 1084 A/T rs76714646 + CDS Nonsynonymous[Glu292Val]
1149 .. 1149 G/A rs79631530 + CDS Nonsynonymous[Gly314Ser]
1195 .. 1195 T/C rs79739141 + CDS Nonsynonymous[Leu329Pro]
1292 .. 1292 G/A rs76040570 + CDS Synonymous[Leu361Leu]
1439 .. 1439 A/G rs77418586 - CDS Synonymous[Gly410Gly]
1496 .. 1496 T/C rs33956726 - CDS Synonymous[Tyr429Tyr]
1529 .. 1529 A/C rs113632976 - CDS Synonymous[Pro440Pro]
1691 .. 1691 T/C rs75560906 + CDS Synonymous[Ser494Ser]
1764 .. 1764 C/T rs76688635 + CDS Nonsynonymous[Arg519Cys]
1862 .. 1862 G/A rs75362705 + CDS Synonymous[Ser551Ser]
1982 .. 1982 A/G rs112421433 - CDS Synonymous[Pro591Pro]
2018 .. 2018 T/C rs113435762 - CDS Synonymous[Thr603Thr]
2047 .. 2047 A/G rs74888964 + CDS Nonsynonymous[Tyr613Cys]
2087 .. 2087 T/A rs34393715 - CDS Synonymous[Pro626Pro]
2088 .. 2088 C/T rs71459188 - CDS Nonsynonymous[Pro627Ser]
2101 .. 2101 C/T rs17852724 - CDS Nonsynonymous[Ala631Val]
2282 .. 2282 A/G rs61729666 - CDS Synonymous[Gln691Gln]
2308 .. 2308 T/C rs111934716 - CDS Nonsynonymous[Ile700Thr]
2322 .. 2322 G/A rs78763451 + CDS Nonsynonymous[Ala705Thr]
2439 .. 2439 G/A rs77967764 + CDS Nonsynonymous[Val744Ile]
2492 .. 2492 T/G rs7137185 - CDS Nonsynonymous[Asp761Glu]
2561 .. 2561 G/A/T rs1126786 + CDS
2625 .. 2625 G/T rs1802658 + CDS Nonsynonymous[Ala806Ser]
2679 .. 2679 T/C rs75484324 + 3'UTR
2692 .. 2692 A/G rs74652091 + 3'UTR
2727 .. 2727 T/C rs9651811 - 3'UTR
2792 ^ 2793 -/A rs56392718 - 3'UTR
2800 ^ 2801 -/A rs71664590 - 3'UTR
3196 .. 3196 A/G rs115824520 - 3'UTR
3235 .. 3235 A/G rs113738793 - 3'UTR
3273 .. 3273 T/A rs78748444 - 3'UTR
3279 .. 3279 C/G rs4304842 - 3'UTR
3312 .. 3312 T/C rs115056526 - 3'UTR
3391 .. 3391 C/G rs12320042 - 3'UTR
3453 .. 3453 A/G rs4283039 - 3'UTR
3509 .. 3509 A/G rs8664 + 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;