H-InvDB x AHG DB
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H-Invitational ID: HIT000243648 Accession number: AF519769 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Protein enabled homolog;
 
 

Transcript original information
Accession number AF519769.1
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 (ENAH) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ENAH);
Sequence data provider NA
Annotation project NA
Length of cDNA 4340[bp] (No. of exon:15)[A:1310 T:1141 G:975 C:913]
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) 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 225683180- 225840661
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 HIP000097325
Predicted CDS 270..2045;  591[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.749
Database links RefSeq NP_001008493; 
UniProt Q8N8S7; 
CCDS CCDS31041; 

Motif information
ORF

length(591),orf(270:2045) MSEQSICQARAAVMVYDDANKKWVPAGGSTGFSRVHIYHHTGNNTFRVVG RKIQDHQVVINCAIPKGLKYNQATQTFHQWRDARQVYGLNFGSKEDANVF ASAMMHALEVLNSQETGPTLPRQNSQLPAQVQNGPSQEELEIQRRQLQEQ QRQKELERERLERERMERERLERERLERERLERERLEQEQLERERQERER QERLERQERLERQERLERQERLDRERQERQERERLERLERERQERERQEQ LEREQLEWERERRISSAAAPASVETPLNSVLGDSSASEPGLQAASQPAET PSQQGIVLGPLAPPPPPPLPPGPAQASVALPPPPGPPPPPPLPSTGPPPP PPPPPLPNQVPPPPPPPPAPPLPASGFFLASMSEDNRPLTGLAAAIAGAK LRKVSRMEDTSFPSGGNAIGVNSASSKTDTGRGNGPLPLGGSGLMEEMSA LLARRRRIAEKGSTIETEQKEDKGEDSEPVTSKASSTSTPEPTRKPWERT 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 HIT000243648
H-Inv cluster ID Locus viewHIX0001634
Accession number AF519769.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Protein enabled homolog;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q8N8S7)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 9312002;  10801818;  11696321;  12941633;  14702039;  15027125;  15469845;  15469846;  15489334;  16710414;  17525332;  17686488;  17974005;  18158903;  18669648;  20068231;  21269460;  21278383;  21406692;  ALL; 
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 NA
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 HIP000097325
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 Human curated
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;  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; 

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) BC062927 MGI:108360 G-integraG-integra
Orthology Rattus sp. (Rat) BC083927 G-integraG-integra
Orthology Equus sp. (Horse) ENSECAT00000024209 G-integraG-integra
Orthology Gallus sp. (Chicken) ENSGALT00000015141 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000019562 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000000189 G-integraG-integra
Orthology Danio sp. (Zebrafish) NM_001045028 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001376503 G-integraG-integra
Orthology Canis sp. (Dog) XM_547511 G-integraG-integra
Orthology Bos sp. (Cow) XM_590728 G-integraG-integra
Orthology Macaca sp. (Macaque) XR_011459 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XR_019972 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
33 .. 33 C/T rs149362944 - 5'UTR
123 .. 123 G/C rs116481763 - 5'UTR
188 .. 188 C/T rs11558604 + 5'UTR
321 .. 321 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn]
328 .. 328 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser]
562 .. 562 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser]
587 .. 587 T/C rs146464464 - CDS Synonymous[His106His]
671 .. 671 C/T rs139065275 - CDS Synonymous[Gly134Gly]
698 .. 698 A/G rs148691501 - CDS Synonymous[Gln143Gln]
735 .. 735 C/A rs201023360 - CDS Nonsynonymous[Leu156Met]
742 .. 742 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln]
902 .. 902 G/A rs201432124 - CDS Synonymous[Glu211Glu]
912 .. 912 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys]
913 .. 913 G/A rs149587286 - CDS Nonsynonymous[Arg215His]
920 .. 920 G/A rs140432837 - CDS Synonymous[Glu217Glu]
930 .. 930 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys]
938 .. 938 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu]
939 .. 939 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp]
963 .. 963 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly]
986 .. 986 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp]
987 .. 987 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp]
1006 .. 1006 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly]
1028 .. 1028 G/A rs1340868 - CDS Synonymous[Arg253Arg]
1045 .. 1045 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly]
1063 .. 1063 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu]
1099 .. 1099 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro]
1159 .. 1159 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu]
1170 .. 1170 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala]
1197 .. 1197 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser]
1207 .. 1207 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu]
1211 .. 1211 A/C rs145188989 - CDS Synonymous[Pro314Pro]
1326 .. 1326 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala]
1445 .. 1445 T/G rs112734185 - CDS Synonymous[Leu392Leu]
1461 .. 1461 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg]
1462 .. 1462 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu]
1494 .. 1494 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn]
1498 .. 1498 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn]
1525 .. 1525 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr]
1588 .. 1588 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala]
1622 .. 1622 G/C rs147843407 - CDS Synonymous[Leu451Leu]
1654 .. 1654 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu]
1660 .. 1660 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys]
1661 .. 1661 A/G rs141466987 - CDS Synonymous[Thr464Thr]
1672 .. 1672 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly]
1674 .. 1674 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu]
1682 .. 1682 G/A rs146063337 - CDS Synonymous[Glu471Glu]
1743 .. 1743 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser]
1799 .. 1799 T/A rs143799748 - CDS Synonymous[Val510Val]
1801 .. 1801 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr]
1818 .. 1818 C/T rs191248485 - CDS Nonsynonymous[Pro517Ser]
1918 .. 1918 C/T rs141150172 - CDS Nonsynonymous[Thr550Met]
1986 .. 1986 C/T rs11556772 + CDS Synonymous[Leu573Leu]
1988 .. 1988 A/C rs144474730 - CDS Synonymous[Leu573Leu]
2005 .. 2005 A/G rs113170551 - CDS Nonsynonymous[Asp579Gly]
2040 .. 2040 G/A rs114476062 - CDS Nonsynonymous[Ala591Thr]
2049 .. 2049 A/G rs17501138 - 3'UTR
2068 .. 2068 G/T rs184878811 - 3'UTR
2219 .. 2219 T/A rs149348028 - 3'UTR
2267 .. 2267 A/T rs1054019 + 3'UTR
2286 .. 2286 T/C rs192876284 - 3'UTR
2347 .. 2347 G/A rs188405610 - 3'UTR
2531 .. 2531 A/G rs11556773 + 3'UTR
2550 .. 2550 A/G rs74147001 - 3'UTR
2652 .. 2652 A/G rs17560215 - 3'UTR
2702 .. 2702 T/A rs184404375 - 3'UTR
2780 .. 2780 A/G rs150637090 - 3'UTR
2958 .. 2958 C/T rs191886070 - 3'UTR
2980 .. 2980 G/T rs141743089 - 3'UTR
3019 .. 3019 G/A rs115933398 - 3'UTR
3122 .. 3122 A/G rs187787533 - 3'UTR
3159 .. 3159 T/C rs184670333 - 3'UTR
3225 .. 3225 A/G rs138086855 - 3'UTR
3297 ^ 3298 -/TA rs60677427 - 3'UTR
3299 ^ 3300 -/TA rs138532187 - 3'UTR
3729 .. 3729 G/A rs147011147 - 3'UTR
3891 .. 3891 C/T rs1044878 + 3'UTR
4058 .. 4058 T/C rs1062859 + 3'UTR
4062 ^ 4063 -/CAA rs71845502 - 3'UTR
4151 .. 4151 C/T rs10915844 - 3'UTR
4161 .. 4161 A/G rs142851338 - 3'UTR
4216 ^ 4217 -/G rs35840692 - 3'UTR
4232 .. 4232 C/T rs10915843 - 3'UTR
4309 .. 4309 C/T rs10915842 - 3'UTR
4337 .. 4337 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;