H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000335274 Accession number: BC095481 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Protein enabled homolog;
 
 

Transcript original information
Accession number BC095481.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:111520 IMAGE:30348815
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (ENAH) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ENAH);
Sequence data provider NA
Annotation project NA
Length of cDNA 4541[bp] (No. of exon:15)[A:1350 T:1160 G:1054 C:977]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Placenta, pre-eclamptic
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 4526(+) Signal: 4499-4503(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) TAGGAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001634
Genomic location  G-integra Help Chromosome 1
Location 1q42.12
Position 225683179- 225840844
Strand -
Possible duplicated location(s) NA
Gene structure 15 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:55740
KEGG GENES KEGG GENES(55740)
GeneCard GeneCardENAH*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 HIP000147293
Predicted CDS 453..2228;  591[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.748

Motif information
ORF

length(591),orf(453:2228)
MSEQSICQARAAVMVYDDANKKWVPAGGSTGFSRVHIYHHTGNNTFRVVG
RKIQDHQVVINCAIPKGLKYNQATQTFHQWRDARQVYGLNFGSKEDANVF
ASAMMHALEVLNSQETGPTLPRQNSQLPAQVQNGPSQEELEIQRRQLQEQ
QRQKELERERLERERMERERLERERLERERLERERLEQEQLERERQERER
QERLERQERLERQERLERQERLDRERQERQERERLERLERERQERERQEQ
LEREQLEWERERRISSAAAPASVETPLNSVLGDSSASEPGLQAASQPAET
PSQQGIVLGPLAPPPPPPLPPGPAQASVALPPPPGPPPPPPLPSTGPPPP
PPPPPLPNQVPPPPPPPPAPPLPASGFFLASMSEDNRPLTGLAAAIAGAK
LRKVSRMEDTSFPSGGNAIGVNSASSKTDTGRGNGPLPLGGSGLMEEMSA
LLARRRRIAEKGSTIETEQKEDKGEDSEPVTSKASSTSTPEPIRKPWERT
NTMNGSKSPVISRRDSPRKNQIVFDNRSYDSLHRPKSTPLSQPSANGVQT
EGLDYDRLKQDILDEMRKELTKLKEELIDAIRQELSKSNTA*
a.a.
length
InterPro Name
length(118), motif(1:118) 118 IPR011993 Pleckstrin homology-like domain [Domain]
length(111), motif(1:111) 111 IPR000697 WH1/EVH1 domain [Domain]
length(108), motif(1:108) 108 IPR000697 WH1/EVH1 domain [Domain]
length(107), motif(1:107) 107 IPR000156 Ran binding domain [Domain]
length(104), motif(4:107) 104 IPR000697 WH1/EVH1 domain [Domain]
length(40), motif(551:590) 40 IPR014885 VASP tetramerisation [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000335274
H-Inv cluster ID Locus viewHIX0001634
Accession number BC095481.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Protein enabled homolog;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q8N8S7)  [Identity/coverage = 99.831%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 9312002108018181169632112941633147020391502712515469845154698461548933416710414175253321768648817974005181589031866964820068231212694602127838321406692ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol ENAH
HGNC aliases NA
HGNC name enabled homolog (Drosophila)
DDBJ ENAH
UniProt ENAH
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 HIP000147293
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:55740
KEGG GENES KEGG GENES(55740)
GeneCard GeneCardENAH*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 Gene familyGene family;  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
Biological process intracellular transport (GO:0046907); 

Subcellular localization information  Last modified:27-May-2015
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:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
2 112 1evhA 1e-30 100.0 111/111 b.55.1.4
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA250219;  AGhsB130401;  AGhsB200916; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 217820_s_at;  228553_at; 
HG-U133A 217820_s_at; 
HG-U133A_2 217820_s_at; 
HG-U133B 228553_at; 
HG-U133_Plus_2 1553672_at;  217820_s_at;  228553_at; 
HG-U95 44597_at;  75549_at;  81075_at; 
HG-U95A NA
HG-U95B 44597_at; 
HG-U95C NA
HG-U95D 75549_at; 
HG-U95E 81075_at; 
HG-U95Av2 NA
HuEx-1_0 2382856;  2382857;  2382863;  2382865;  2458360;  2458361;  2458362;  2458363;  2458364;  2458365;  2458367;  2458371;  2458372;  2458376;  2458378;  2458380;  2458381;  2458382;  2458383;  2458384;  2458385;  2458386;  2458389;  2458390;  2458397;  2458398;  2458399;  2458400;  2458401;  2458406;  2458416;  2458417;  2458418;  2458441;  2458442;  2458443;  2468210;  2657925; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P337767;  A_23_P51397; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P337767;  A_23_P51397; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

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
216 .. 216 C/T rs149362944 - 5'UTR
306 .. 306 G/C rs116481763 - 5'UTR
371 .. 371 C/T rs11558604 + 5'UTR
504 .. 504 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn]
511 .. 511 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser]
745 .. 745 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser]
770 .. 770 T/C rs146464464 - CDS Synonymous[His106His]
854 .. 854 C/T rs139065275 - CDS Synonymous[Gly134Gly]
881 .. 881 A/G rs148691501 - CDS Synonymous[Gln143Gln]
918 .. 918 C/A rs201023360 - CDS Nonsynonymous[Leu156Met]
925 .. 925 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln]
1085 .. 1085 G/A rs201432124 - CDS Synonymous[Glu211Glu]
1095 .. 1095 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys]
1096 .. 1096 G/A rs149587286 - CDS Nonsynonymous[Arg215His]
1103 .. 1103 G/A rs140432837 - CDS Synonymous[Glu217Glu]
1113 .. 1113 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys]
1121 .. 1121 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu]
1122 .. 1122 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp]
1146 .. 1146 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly]
1169 .. 1169 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp]
1170 .. 1170 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp]
1189 .. 1189 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly]
1211 .. 1211 A/G rs1340868 - CDS Synonymous[Arg253Arg]
1228 .. 1228 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly]
1246 .. 1246 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu]
1282 .. 1282 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro]
1342 .. 1342 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu]
1353 .. 1353 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala]
1380 .. 1380 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser]
1390 .. 1390 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu]
1394 .. 1394 A/C rs145188989 - CDS Synonymous[Pro314Pro]
1509 .. 1509 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala]
1628 .. 1628 T/G rs112734185 - CDS Synonymous[Leu392Leu]
1644 .. 1644 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg]
1645 .. 1645 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu]
1677 .. 1677 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn]
1681 .. 1681 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn]
1708 .. 1708 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr]
1771 .. 1771 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala]
1805 .. 1805 G/C rs147843407 - CDS Synonymous[Leu451Leu]
1837 .. 1837 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu]
1843 .. 1843 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys]
1844 .. 1844 A/G rs141466987 - CDS Synonymous[Thr464Thr]
1855 .. 1855 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly]
1857 .. 1857 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu]
1865 .. 1865 G/A rs146063337 - CDS Synonymous[Glu471Glu]
1926 .. 1926 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser]
1982 .. 1982 T/A rs143799748 - CDS Synonymous[Val510Val]
1984 .. 1984 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr]
2001 .. 2001 C/T rs191248485 - CDS Nonsynonymous[Pro517Ser]
2101 .. 2101 C/T rs141150172 - CDS Nonsynonymous[Thr550Met]
2169 .. 2169 C/T rs11556772 + CDS Synonymous[Leu573Leu]
2171 .. 2171 A/C rs144474730 - CDS Synonymous[Leu573Leu]
2188 .. 2188 A/G rs113170551 - CDS Nonsynonymous[Asp579Gly]
2223 .. 2223 G/A rs114476062 - CDS Nonsynonymous[Ala591Thr]
2232 .. 2232 G/A rs17501138 - 3'UTR
2251 .. 2251 G/T rs184878811 - 3'UTR
2402 .. 2402 T/A rs149348028 - 3'UTR
2450 .. 2450 A/T rs1054019 + 3'UTR
2469 .. 2469 T/C rs192876284 - 3'UTR
2530 .. 2530 G/A rs188405610 - 3'UTR
2714 .. 2714 A/G rs11556773 + 3'UTR
2733 .. 2733 A/G rs74147001 - 3'UTR
2835 .. 2835 G/A rs17560215 - 3'UTR
2885 .. 2885 T/A rs184404375 - 3'UTR
2963 .. 2963 A/G rs150637090 - 3'UTR
3143 .. 3143 C/T rs191886070 - 3'UTR
3165 .. 3165 G/T rs141743089 - 3'UTR
3204 .. 3204 G/A rs115933398 - 3'UTR
3307 .. 3307 A/G rs187787533 - 3'UTR
3344 .. 3344 T/C rs184670333 - 3'UTR
3410 .. 3410 A/G rs138086855 - 3'UTR
3482 ^ 3483 -/TA rs60677427 - 3'UTR
3484 ^ 3485 -/TA rs138532187 - 3'UTR
3914 .. 3914 G/A rs147011147 - 3'UTR
4076 .. 4076 C/T rs1044878 + 3'UTR
4243 .. 4243 T/C rs1062859 + 3'UTR
4247 ^ 4248 -/CAA rs71845502 - 3'UTR
4336 .. 4336 C/T rs10915844 - 3'UTR
4346 .. 4346 A/G rs142851338 - 3'UTR
4401 ^ 4402 -/G rs35840692 - 3'UTR
4417 .. 4417 C/T rs10915843 - 3'UTR
4494 .. 4494 C/T rs10915842 - 3'UTR
4522 .. 4522 T/A rs200251176 + 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