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: HIT000422976 Accession number: AK290179 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Protein enabled homolog isoform a.
 
 

Transcript original information
Accession number AK290179.1
CAGE tag ID NA
EST ID NA
Clone Number BRTHA3006785
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 2124[bp] (No. of exon:14)[A:578 T:361 G:597 C:588]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type thalamus
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 225685463- 225840789
Strand -
Possible duplicated location(s) NA
Gene structure 14 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 HIP000191908
Predicted CDS 398..2110;  570[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.748

Motif information
ORF

length(570),orf(398:2110)
MSEQSICQARAAVMVYDDANKKWVPAGGSTGFSRVHIYHHTGNNTFRVVG
RKIQDHQVVINCAIPKGLKYNQATQTFHQWRDARQVYGLNFGSKEDANVF
ASAMMHALEVLNSQETEPTLPRQNSQLPAQVQNGPSQEELEIQRRQLQEQ
QRQKELERERLERERMERERLERERLERERLERERLEQEQLERERQERER
QERLERQERLERQERLERQERLDRERQERQERERLERLERERQERERQEQ
LEREQLEWERERRISSAAAPASVETPLNSVLGDSSASEPGLQAASQPAET
PSQQGIVLGPLAPPPPPPLPPGPAQASVALPPPPGPPPPPPLPSTGPPPP
PPPPPLPNQVPPPPPPPPAPPLPASGFFLASMSEDNRPLTGLAAAIAGAK
LRKVSRMEDTSFPSGGNAIGVNSASSKTDTGRGNGPLPLGGSGLMEEMSA
LLARRRRIAEKGSTIETEQKEDKGEDSEPVTSKASSTSTPEPTRKPWERT
NTMNGSKSPVISRPKSTPLSQPSANGVQTEGLDYDRLKQDILDEMRKELT
KLKEELIDAIRQELSKSNTA*
a.a.
length
InterPro Name
length(118), motif(1:118) 118 IPR011993 Pleckstrin homology-like domain [Domain]
length(108), motif(1:108) 108 IPR000697 WH1/EVH1 domain [Domain]
length(111), motif(1:111) 111 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(530:569) 40 IPR014885 VASP tetramerisation [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000422976
H-Inv cluster ID Locus viewHIX0001634
Accession number AK290179.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Similar to Protein enabled homolog isoform a.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_001008493)  [Identity/coverage = 99.825%/100.0%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
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 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 HIP000191908
No. of interaction 1
Interaction partner(s) HIP000061587
BIND 133374; 
DIP NA
MINT NA
HPRD 01452;  01685;  01809;  02314;  02986;  03592;  04087;  04107;  04336;  04893;  05686;  05833;  05900;  07338;  09604;  10918;  10995; 
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.

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
161 .. 161 C/T rs149362944 - 5'UTR
251 .. 251 G/C rs116481763 - 5'UTR
316 .. 316 C/T rs11558604 + 5'UTR
449 .. 449 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn]
456 .. 456 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser]
690 .. 690 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser]
715 .. 715 T/C rs146464464 - CDS Synonymous[His106His]
799 .. 799 C/T rs139065275 - CDS Synonymous[Gly134Gly]
826 .. 826 A/G rs148691501 - CDS Synonymous[Gln143Gln]
863 .. 863 C/A rs201023360 - CDS Nonsynonymous[Leu156Met]
870 .. 870 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln]
1030 .. 1030 G/A rs201432124 - CDS Synonymous[Glu211Glu]
1040 .. 1040 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys]
1041 .. 1041 G/A rs149587286 - CDS Nonsynonymous[Arg215His]
1048 .. 1048 G/A rs140432837 - CDS Synonymous[Glu217Glu]
1058 .. 1058 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys]
1066 .. 1066 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu]
1067 .. 1067 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp]
1091 .. 1091 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly]
1114 .. 1114 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp]
1115 .. 1115 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp]
1134 .. 1134 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly]
1156 .. 1156 G/A rs1340868 - CDS Synonymous[Arg253Arg]
1173 .. 1173 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly]
1191 .. 1191 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu]
1227 .. 1227 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro]
1287 .. 1287 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu]
1298 .. 1298 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala]
1325 .. 1325 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser]
1335 .. 1335 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu]
1339 .. 1339 A/C rs145188989 - CDS Synonymous[Pro314Pro]
1454 .. 1454 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala]
1573 .. 1573 T/G rs112734185 - CDS Synonymous[Leu392Leu]
1589 .. 1589 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg]
1590 .. 1590 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu]
1622 .. 1622 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn]
1626 .. 1626 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn]
1653 .. 1653 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr]
1716 .. 1716 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala]
1750 .. 1750 G/C rs147843407 - CDS Synonymous[Leu451Leu]
1782 .. 1782 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu]
1788 .. 1788 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys]
1789 .. 1789 A/G rs141466987 - CDS Synonymous[Thr464Thr]
1800 .. 1800 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly]
1802 .. 1802 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu]
1810 .. 1810 G/A rs146063337 - CDS Synonymous[Glu471Glu]
1871 .. 1871 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser]
1927 .. 1927 T/A rs143799748 - CDS Synonymous[Val510Val]
1929 .. 1929 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr]
1983 .. 1983 C/T rs141150172 - CDS Nonsynonymous[Thr529Met]
2051 .. 2051 C/T rs11556772 + CDS Synonymous[Leu552Leu]
2053 .. 2053 A/C rs144474730 - CDS Synonymous[Leu552Leu]
2070 .. 2070 A/G rs113170551 - CDS Nonsynonymous[Asp558Gly]
2105 .. 2105 G/A rs114476062 - CDS Nonsynonymous[Ala570Thr]
2114 .. 2114 A/G rs17501138 - 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