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: HIT000037190 Accession number: BC015568 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Gamma-secretase subunit APH-1A; APH-1a; Aph-1alpha; Presenilin-stabilization factor;
 
 

Transcript original information
Accession number BC015568.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:22981 IMAGE:3356401
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (APH1A) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (APH1A);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 1699[bp] (No. of exon:7)[A:302 T:478 G:471 C:448]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Eye, retinoblastoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1681(+) Signal: 1664-1668(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001015
Genomic location  G-integra Help Chromosome 1
Location 1q21.2
Position 150237805- 150241368
Strand -
Possible duplicated location(s) NA
Gene structure 7 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:51107
KEGG GENES KEGG GENES(51107)
GeneCard GeneCardAPH1A*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 HIP000054604
Predicted CDS 159..956;  265[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.752
Database links RefSeq NP_001071096
UniProt Q96BI3
CCDS CCDS41390

Motif information
ORF

length(265),orf(159:956)
MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLAS
VVWFILVHVTDRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEG
LASLSEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIH
GDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLT
SGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQRSLLCRRQED
SRVMVYSALRIPPED*
a.a.
length
InterPro Name
length(258), motif(2:259) 258 IPR009294 Gamma-secretase subunit Aph-1 [Family]
length(243), motif(3:245) 243 IPR009294 Gamma-secretase subunit Aph-1 [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000037190
H-Inv cluster ID Locus viewHIX0001015
Accession number BC015568.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Gamma-secretase subunit APH-1A; APH-1a; Aph-1alpha; Presenilin-stabilization factor;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q96BI3)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 10810093121101701229750812471034125221391267978412740439127630211297530914593096147020391548933416710414ALL
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 APH1A
HGNC aliases "anterior pharynx defective 1 homolog A (C. elegans)"
HGNC name APH1A gamma secretase subunit
DDBJ APH1A
UniProt APH1A
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 HIP000054604
No. of interaction 1
Interaction partner(s) HIP000017955
BIND 209240; 
DIP NA
MINT MINT-6174950;  MINT-7025631;  MINT-7025654; 
HPRD 00770;  01925;  02557;  04488;  05584;  06362;  06817;  11089;  16050; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:51107
KEGG GENES KEGG GENES(51107)
GeneCard GeneCardAPH1A*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 protein processing (GO:0016485);  positive regulation of enzyme activity (GO:0043085); 
Cellular component integral to membrane (GO:0016021); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
Target P signal peptide
SOSUI membrane protein
TMHMM membrane 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.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA031107; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 NA
HG-U133A NA
HG-U133A_2 NA
HG-U133B NA
HG-U133_Plus_2 1554417_s_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2358116;  2358118;  2434347;  2434349;  2434351;  2434352;  2434354;  2434355;  2434356;  2434358;  2434359;  2434360; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P930; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P930; 
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
5 .. 5 T/C rs200721652 - 5'UTR
6 .. 6 C/T rs199768691 - 5'UTR
9 .. 9 C/A rs201552876 - 5'UTR
10 .. 10 C/G rs200241539 - 5'UTR
15 .. 15 C/T/A rs199642580 - 5'UTR
24 .. 24 C/T rs201500039 - 5'UTR
41 .. 41 A/G rs200566570 - 5'UTR
47 .. 47 C/T rs201956935 - 5'UTR
51 .. 51 G/A rs201145618 - 5'UTR
85 .. 85 A/T rs200412198 - 5'UTR
94 .. 94 C/T rs201855950 - 5'UTR
137 .. 137 C/T rs201013896 - 5'UTR
139 .. 139 C/A rs2275780 - 5'UTR
140 .. 140 C/G rs181092416 - 5'UTR
147 .. 147 A/C rs201108747 - 5'UTR
150 .. 150 T/C rs200128905 - 5'UTR
169 .. 169 C/T rs201630308 - CDS Nonsynonymous[Ala4Val]
187 .. 187 C/T rs11548266 + CDS Nonsynonymous[Thr10Ile]
194 .. 194 C/G rs200745916 - CDS Synonymous[Val12Val]
195 .. 195 G/A rs199961673 - CDS Nonsynonymous[Ala13Thr]
206 .. 206 G/T rs201823216 - CDS Synonymous[Pro16Pro]
209 .. 209 C/T rs112321698 - CDS Synonymous[Ala17Ala]
294 .. 294 C/T rs1132746 + CDS Synonymous[Leu46Leu]
300 .. 300 C/T rs200730753 - CDS Synonymous[Leu48Leu]
309 .. 309 G/A rs199775906 - CDS Nonsynonymous[Val51Met]
410 .. 410 G/A rs201613749 - CDS Synonymous[Glu84Glu]
464 .. 464 A/G rs199977984 - CDS Synonymous[Ala102Ala]
533 .. 533 C/T rs201257450 - CDS Synonymous[Phe125Phe]
668 .. 668 C/T rs202221454 - CDS Synonymous[Leu170Leu]
695 .. 695 T/C rs201620153 - CDS Synonymous[Phe179Phe]
739 .. 739 T/C rs200325781 - CDS Nonsynonymous[Val194Ala]
749 .. 749 C/T rs202029718 - CDS Synonymous[His197His]
758 .. 758 A/T rs201096173 - CDS Synonymous[Thr200Thr]
761 .. 761 G/T rs201219308 - CDS Synonymous[Ser201Ser]
764 .. 764 A/C rs2275778 - CDS Synonymous[Gly202Gly]
765 .. 765 C/T rs201939644 - CDS Synonymous[Leu203Leu]
773 .. 773 C/T rs199803918 - CDS Synonymous[Phe205Phe]
809 .. 809 C/T rs9658939 - CDS Synonymous[Ile217Ile]
836 .. 836 C/T rs9658936 - CDS Synonymous[Leu226Leu]
864 .. 864 C/A rs17849449 - CDS Nonsynonymous[Leu236Ile]
882 .. 882 A/T rs200511495 - CDS Nonsynonymous[Ser242Cys]
893 .. 893 C/G rs74126634 - CDS Nonsynonymous[Cys245Trp]
913 .. 913 G/C/A rs71622685 - CDS
915 .. 915 G/A rs201553051 - CDS Nonsynonymous[Val253Met]
971 .. 971 G/A rs200240863 - 3'UTR
996 .. 996 T/A rs199646767 - 3'UTR
1006 .. 1006 G/A rs201411127 - 3'UTR
1059 .. 1059 G/A rs200528248 - 3'UTR
1106 .. 1106 G/C rs202091565 - 3'UTR
1129 .. 1129 C/G rs201035904 - 3'UTR
1130 .. 1130 A/G rs200432613 - 3'UTR
1204 .. 1204 C/T rs201855910 - 3'UTR
1206 .. 1206 C/A rs201013519 - 3'UTR
1207 .. 1207 T/C rs199926282 - 3'UTR
1213 .. 1213 G/T rs201754927 - 3'UTR
1233 .. 1233 G/T rs201261520 - 3'UTR
1235 .. 1235 G/T/C rs189623935 - 3'UTR
1237 .. 1237 G/T rs201818552 - 3'UTR
1247 .. 1247 G/A rs200654934 - 3'UTR
1296 .. 1296 C/T rs199961462 - 3'UTR
1305 .. 1305 C/G rs201826227 - 3'UTR
1320 .. 1320 C/T rs200779875 - 3'UTR
1325 .. 1325 C/T/G rs184760849 - 3'UTR
1326 .. 1326 G/A rs145520277 - 3'UTR
1389 .. 1389 C/T rs141869795 - 3'UTR
1411 .. 1411 A/T rs199703472 - 3'UTR
1433 .. 1433 C/T rs201778614 - 3'UTR
1435 .. 1435 T/C rs200242333 - 3'UTR
1448 .. 1448 G/C rs201790284 - 3'UTR
1470 .. 1470 G/A rs201164589 - 3'UTR
1479 .. 1479 A/G rs200373203 - 3'UTR
1495 .. 1495 G/A rs201624411 - 3'UTR
1517 .. 1517 C/T rs201040334 - 3'UTR
1519 .. 1519 T/A rs200032971 - 3'UTR
1526 .. 1526 G/A rs202107491 - 3'UTR
1540 .. 1540 G/A rs201358832 - 3'UTR
1544 .. 1544 T/C rs192534646 - 3'UTR
1553 .. 1553 A/T rs3209394 + 3'UTR
1554 .. 1554 G/T rs3209395 + 3'UTR
1567 .. 1567 G/C rs200690018 - 3'UTR
1580 .. 1580 G/A rs200102444 - 3'UTR
1658 .. 1658 T/C rs202078358 - 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