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Aliases & Descriptions for APH1A
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases 6530402N02Rik 2 APH-1A 1 , 2 APH-1a 3 Aph-1alpha 3 CGI-78 1 , 2 OTTHUMP00000014528 2 OTTHUMP00000014529 2 PSF 3
Descriptions Presenilin-stabilization factor 3 anterior pharynx defective 1 homolog A 2 anterior pharynx defective 1 homolog A (C. elegans) 2
Search outside databases for aliases for APH1A genePrevious GC identifer: GC01M147051
Summaries for APH1A (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for APH1A : APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311)and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. Thegamma-secretase complex is required for the intramembrane proteolysis of a number of membraneproteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM190198).[supplied by OMIM] UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3 Function : Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzesthe intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloidprecursor protein). It probably represents a stabilizing cofactor for the presenilin homodimerthat promotes the formation of a stable complex
Genomic Location for APH1A
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the APH1A gene Entrez Gene cytogenetic band: 1p36.13-q31.3 Ensembl cytogenetic band: 1q21.2 HGNC cytogenetic band: 1p36.13-q31.3 APH1A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M148504:
(about GC identifiers )
Start:
148,502,512 bp from pter
End:
148,508,156 bp from pter
Size:
5,645 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000001.9 NT_004487.18 Proteins for APH1A
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
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R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3 (See
protein sequence )Recommended Name: Gamma-secretase subunit APH-1A Size : 265 amino acids; 28996 Da
Subunit : Component of the gamma-secretase complex, a complex composed of a presenilin homodimer(PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex issufficient for secretase activity, although other components may exist
Subcellular location : Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus,Golgi stack membrane; Multi-pass membrane protein. Note=Predominantly located in the endoplasmicreticulum and in the cis-Golgi
Sequence caution : Sequence=AAD34072.1; Type=Frameshift; Positions=243; Sequence=AAN63816.1;Type=Frameshift; Positions=243;
Secondary accessions : Q969R6 Q9BVG0 Q9Y386Alternative splicing : 2 isoforms : Q96BI3-1 Q96BI3-2
REFSEQ proteins (2 alternative transcripts):
NP_001071096.1 NP_057106.2 ENSEMBL proteins: ENSP00000236017 ENSP00000358105 ENSP00000353380 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for APH1A: Assays for APH1A:
Protein
Domains/ Families for APH1A(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q96BI3 ProtoNet protein and cluster: Q96BI3
1 Blocks protein family : IPB009294 Aph-1 UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3 Similarity : Belongs to the APH-1 family
Gene Function for APH1A
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
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Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001077628 Applied Biosystems Silencer ® siRNAs for APH1A Sigma-Aldrich siRNA and siRNA Panels for APH1A Sigma-Aldrich shRNA for APH1A Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001077628                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001077628                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001077628  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001077628 UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3 Function : Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzesthe intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloidprecursor protein). It probably represents a stabilizing cofactor for the presenilin homodimerthat promotes the formation of a stable complex
9 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Aph1a) :1 Gene Ontology (GO) molecular function term (links to tree view) :
About this table
Pathways & Interactions for APH1A
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for APH1A (Your Favorite Gene powered by Ingenuity) 5/27 Interacting proteins for APH1A (ENSP00000358105 3 Q96BI3 2 ) via UniProtKB, MINT, and/or STRING (see all 27
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
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Drugs & Compounds for APH1A (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for APH1A
Sigma-Aldrich Small Molecules for APH1A:Inhibitor
Browse Tocris compounds for APH1A
Transcripts for APH1A(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
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ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001077628 Sigma-Aldrich siRNA and siRNA Panels for APH1A Sigma-Aldrich shRNA for APH1A Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001077628 NM_016022
REFSEQ mRNAs for APH1A gene (2 alternative transcripts): NM_001077628.1 NM_016022.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001077628 NM_016022
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001077628                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001077628                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001077628  
Additional cDNA sequence: AF151835.1 AF508787.1 AK027879.1 AK075295.1 AK075452.1 AK297680.1 AK298832.1 AK298876.1 AK300640.1 AK307358.1 AK314490.1 AY113698.1 AY113699.1 AY358951.1 BC001230.2 BC008732.2 BC009501.2 BC015568.2 BC017699.1 BC020590.1 BC068606.1 CR590583.1 CR591178.1 CR591331.1 CR594282.1 CR594321.1 CR596144.1 CR597912.1 CR601650.1 CR603099.1 CR605320.1 CR607278.1 CR609243.1 CR609659.1 CR609960.1 CR610823.1 CR612872.1 CR613868.1 CR615087.1 CR618014.1 CR626054.1 CR626391.1 CR626622.1 CR626805.1
24/27 DOTS entries (see all 27
): DT.100667168 DT.92464622 DT.100667178 DT.100667165 DT.100667170 DT.92377898 DT.91947264 DT.95208829 DT.415663 DT.95370242 DT.92464637 DT.92464632 DT.95370244 DT.97855534 DT.100678619 DT.101985469 DT.92464630 DT.95370235 DT.100699928 DT.100866480 DT.121408334 DT.121408339 DT.121408344 DT.121408417
24/537 AceView cDNA sequences (see all 537
):BX336175 CR609659 AI583196 BX440256 BM839590 BM464560 AX775955 BQ919286 CB120774 BM770674 CA488564 AA314355 CB216714 CR591178 AI878986 BU729468 N91321 BQ012743 AI217102 AI419017 AI242398 BQ939689 AI624597 AI250157
highest scoring ESTs for APH1A :AA314355 AF151835 AF508787 AI878986 AK027879 AK075295 AK075452 AL515915 AL516502 AL527244
Unigene Cluster for APH1A: Anterior pharynx defective 1 homolog A (C. elegans) Hs.108408 [show with all ESTs ] Unigene Representative Sequence: BC068606 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for APH1A (see all 6
) ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7 SP1 :             -     -       -     -   -     SP2 :             -     -       -           SP3 :             -           -           SP4 :         -   -   -     -       -           SP5 :             -                    
About this scheme ECgene alternative splicing isoforms for APH1A 3 Ensembl transcripts including schematic representations : ENST00000236017
ENST00000369109
ENST00000360244
Expression for APH1A
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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APH1A expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for APH1A 1 / 2 / 3
4 probe-sets matching APH1A gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACATCGTAGGSOURCE GeneReport for Unigene cluster: Hs.108408 UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3 Tissue specificity : Widely expressed. Expressed in leukocytes, lung, placenta, small intestine,liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearlyexpressed at the same level
Orthologs for APH1A
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for APH1A gene from 5/9 species (see all 9
)
About this table Species with no ortholog for APH1A ENSEMBL Gene Tree for APH1A Paralogs for APH1A (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for APH1A gene APH1B 2
SNPs/Variants for APH1A (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for APH1A (up to first 250kb)
Disorders & Mutations for APH1A
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 607629 Human Genome Epidemiology Navigator: APH1A (2 documents)
Medical News for APH1A (Possibly Related Articles in
Doctor's Guide )
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--
Publications for APH1A (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/38 PubMed articles for APH1A gene (see all 38
): aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation. (PubMed id 12110170) 2, 3, 4 Francis R....Curtis D. (2002) Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093) 2, 3, 4 Lai C.H....Lin W. (2000) APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity. (PubMed id 12763021) 1, 3, 4 Marlow L....Sambamurti K. (2003) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Reconstitution of gamma-secretase activity. (PubMed id 12679784) 3, 4 Edbauer D.... Haass C. (2003) APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes. (PubMed id 12471034) 3, 4 Gu Y....St George-Hyslop P.H. (2003) Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PubMed id 12740439) 3, 4 Kimberly W.T....Selkoe D.J. (2003) PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1. (PubMed id 12522139) 3, 4 Luo W.-J.... Xu H. (2003) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 3, 4 Clark H.F....Gray A. (2003)
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Genome Databases showing APH1A
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing APH1A
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Specialized Databases showing APH1A (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for APH1A (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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