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APH1A Gene

protein-coding   GIFtS: 65
GCID: GC01M150237

APH1A Gamma Secretase Subunit

(Previous name: anterior pharynx defective 1 homolog A (C. elegans))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
APH1A Gamma Secretase Subunit1 2     Anterior Pharynx Defective 1 Homolog A2
Presenilin-Stabilization Factor2 3     aph-1alpha2
Anterior Pharynx Defective 1 Homolog A (C. Elegans)1     Gamma-Secretase Subunit APH-1A2
6530402N02Rik2     APH-1a3
APH-12     Aph-1alpha3
APH-1A2     PSF3
CGI-782     

External Ids:    HGNC: 295091   Entrez Gene: 511072   Ensembl: ENSG000001173627   OMIM: 6076295   UniProtKB: Q96BI33   
ORGUL members:         

Export aliases for APH1A gene to outside databases

Previous GC identifers: GC01M147051 GC01M148504 GC01M121616


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APH1A Gene:
This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch
receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the
paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin
enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is
suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as
interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms
in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's
disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants.
(provided by RefSeq, Aug 2011)

GeneCards Summary for APH1A Gene:
APH1A (APH1A gamma secretase subunit) is a protein-coding gene. Diseases associated with APH1A include alzheimer's disease, and tonsillitis. GO annotations related to this gene include endopeptidase activity. An important paralog of this gene is APH1B.

UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3
Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the
intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It
probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable
complex




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APH1A gene promoter:
         AhR   AREB6   C/EBPbeta   FOXF2   Bach2   FOXO4   CUTL1   Arnt   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPH1A promoter sequence
   Search Chromatin IP Primers for APH1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APH1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.13-q31.3   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.2

APH1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APH1A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M150237:  view genomic region     (about GC identifiers)

Start:
150,237,799 bp from pter      End:
150,241,980 bp from pter
Size:
4,182 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for APH1A

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 is sufficient for secretase activity,
although other components may exist
Sequence caution: Sequence=AAD34072.1; Type=Frameshift; Positions=243; Sequence=AAN63816.1; Type=Frameshift;
Positions=243;
Secondary accessions: B4DQK0 Q5TB22 Q5TB23 Q969R6 Q9BVG0 Q9Y386
Alternative splicing: 3 isoforms:  Q96BI3-1   Q96BI3-2   Q96BI3-3   

Explore the universe of human proteins at neXtProt for APH1A: NX_Q96BI3

Explore proteomics data for APH1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92
  • Modification sites at PhosphoSitePlus

  • See APH1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001071096.1  NP_001230700.1  NP_001230701.1  NP_057106.2  

    ENSEMBL proteins: 
     ENSP00000358105   ENSP00000353380   ENSP00000236017   ENSP00000397473  
    Reactome Protein details: Q96BI3

    APH1A Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for APH1A
    OriGene Custom MassSpec
    OriGene Custom Protein Services for APH1A
    GenScript Custom Purified and Recombinant Proteins Services for APH1A
    Novus Biologicals APH1A Proteins
    Novus Biologicals APH1A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APH1A

    APH1A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of APH1A
    R&D Systems Antibodies for APH1A
    OriGene Antibodies for APH1A
    OriGene Custom Antibody Services for APH1A
    Novus Biologicals APH1A Antibodies
    Abcam antibodies for APH1A (Q96BI3, Q5TB23)
    Cloud-Clone Corp. Antibodies for APH1A
    ThermoFisher Antibody for APH1A
    LSBio Antibodies in human, mouse, rat for APH1A

    APH1A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for APH1A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APH1A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APH1A
    Cloud-Clone Corp. CLIAs for APH1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009294 Aph-1

    Graphical View of Domain Structure for InterPro Entry Q96BI3

    ProtoNet protein and cluster: Q96BI3

    1 Blocks protein domain: IPB009294 Aph-1

    UniProtKB/Swiss-Prot: APH1A_HUMAN, Q96BI3
    Similarity: Belongs to the APH-1 family


    APH1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APH1A_HUMAN, Q96BI3
    Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the
    intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It
    probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable
    complex

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IEA--
    GO:0005515protein binding IPI12297508
         
    APH1A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for APH1A:
     Increased cell number in G2M,  

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aph1a):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  mortality/aging 
     muscle  nervous system  normal  skeleton 

    APH1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APH1A: Aph1atm1Pcw Aph1atm1.1Bdes

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APH1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APH1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APH1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APH1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target APH1A:
    hsa-mir-145-5p (MIRT021538)

    Block miRNA regulation of human, mouse, rat APH1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APH1A (see all 44):
    hsa-miR-4291 hsa-miR-3678-3p hsa-miR-519a hsa-miR-449a hsa-miR-761 hsa-miR-3690 hsa-miR-4324 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidAPH1A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APH1A
    Predesigned siRNA for gene silencing in human, mouse, rat APH1A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APH1A

    Clone
    Products:
         
    OriGene clones in human, mouse for APH1A (see all 13)
    OriGene ORF clones in mouse, rat for APH1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): APH1A (NM_001077628)
    Sino Biological Human cDNA Clone for APH1A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APH1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1A

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for APH1A
    Browse ESI BIO Cell Lines and PureStem Progenitors for APH1A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APH1A_HUMAN, Q96BI3: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack
    membrane; Multi-pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the
    cis-Golgi
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane4

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15274632
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IDA15274632
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA15274632

    APH1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APH1A About   (see all 17)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Signaling by NOTCH30.00
    Notch Signaling Pathway0.84
    Signaling by NOTCH40.00
    Delta-Notch Signaling Pathway0.33
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    4p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    Regulated proteolysis of p75NTR0.00
    Cell death signalling via NRAGE, NRIF and NADE0.74
    NRIF signals cell death from the nucleus0.00
    5Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    Signaling by NOTCH20.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for APH1A
        A-beta Plaque Formation & APP Metabolism
    Notch Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for APH1A
        Molecular Mechanisms of Cancer
    Presenilin-Mediated Signaling
    ErbB4 Pathway

    3 GeneGo (Thomson Reuters) Pathways for APH1A
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway
    Development MAG-dependent inhibition of neurite outgrowth

    Selected BioSystems Pathways for APH1A (see all 7)
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Alzheimers Disease
    Syndecan-3-mediated signaling events
    p75(NTR)-mediated signaling


    Selected Reactome Pathways for APH1A (see all 9)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NRIF signals cell death from the nucleus
    Regulated proteolysis of p75NTR
    NOTCH2 Activation and Transmission of Signal to the Nucleus
    Signaling by NOTCH4


    2 Kegg Pathways  (Kegg details for APH1A):
        Notch signaling pathway
    Alzheimer's disease


    APH1A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including APH1A: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for APH1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for APH1A (Q96BI31, 2, 3 ENSP000003581054) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCSTNQ925421, 2, 3, ENSP000002947854EBI-2606935,EBI-998440 MINT-6174950 MINT-7025631 I2D: score=5 STRING: ENSP00000294785
    PSENENQ9NZ422, 3, ENSP000002222664MINT-7025654 MINT-7025631 I2D: score=3 STRING: ENSP00000222266
    PSEN1P497683, ENSP000003263664I2D: score=4 STRING: ENSP00000326366
    PSEN2P498103, ENSP000003557474I2D: score=3 STRING: ENSP00000355747
    TMED10P497553, ENSP000003031454I2D: score=1 STRING: ENSP00000303145
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development IEA--
    GO:0006509membrane protein ectodomain proteolysis IDA15274632
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS15274632
    GO:0016485protein processing IDA15274632

    APH1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for APH1A (see all 17)     About this table
    CompoundAction CAS #
    Begacestatgamma-secretase inhibitor[769169-27-9]
    BMS 299897Orally active, potent gamma-secretase inhibitor[290315-45-6]
    BMS-708163 (Avagacestat)potent, selective an[1146699-66-2]
    Compound WInhibitor of gamma-secretase[173550-33-9]
    DAPT (GSI-IX)potent and specific inhibitor of gamma-secretase[208255-80-5]
    E 2012potent gamma-secretase modulator[870843-42-8]
    Flurizaninhibits gamma-secretase activity. [51543-40-9]
    JLK 6Inhibitor of gamma-secretase[62252-26-0]
    L-685,458Potent and selective gamma-secretase Inhibitor[292632-98-5]
    LY-411575selective, cell permeable, small molecule gamma secretase inhibitor[209984-57-6]

    Browse Tocris compounds for APH1A



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APH1A gene (4 alternative transcripts): 
    NM_001077628.2  NM_001243771.1  NM_001243772.1  NM_016022.3  

    Unigene Cluster for APH1A:

    Anterior pharynx defective 1 homolog A (C. elegans)
    Hs.108408  [show with all ESTs]
    Unigene Representative Sequence: NM_016022
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369109 ENST00000360244(uc001ety.2 uc001etz.2 uc010pbx.2 uc010pby.2 uc010pbz.2)
    ENST00000461320 ENST00000236017 ENST00000486308 ENST00000486720 ENST00000476538
    ENST00000493092 ENST00000414276
    miRNA
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    Block miRNA regulation of human, mouse, rat APH1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APH1A (see all 44):
    hsa-miR-4291 hsa-miR-3678-3p hsa-miR-519a hsa-miR-449a hsa-miR-761 hsa-miR-3690 hsa-miR-4324 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidAPH1A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for APH1A
    Predesigned siRNA for gene silencing in human, mouse, rat APH1A
    Clone
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    OriGene clones in human, mouse for APH1A (see all 13)
    OriGene ORF clones in mouse, rat for APH1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): APH1A (NM_001077628)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APH1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for APH1A
    OriGene qSTAR qPCR primer pairs in human, mouse for APH1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APH1A
      QuantiTect SYBR Green Assays in human, mouse, rat APH1A
      QuantiFast Probe-based Assays in human, mouse, rat APH1A

    Additional mRNA 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 NR_045033.1 NR_045034.1 NR_045035.1 

    Selected DOTS entries (see all 26):

    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 

    Selected AceView cDNA sequences (see all 537):

    BQ012470 BU623723 BM701390 BQ956444 CB153011 BC008732 BM464560 AI308919 
    BU178482 BU738649 CR626805 BE857488 BI870944 BM847251 BP353853 BP377710 
    CR605320 CR626054 AI250157 AA314355 AW873984 BM764082 BX440256 CF551893 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APH1A (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7
    SP1:                                      -           -                 -           -     -         
    SP2:                                      -           -                 -                           
    SP3:                                      -                             -                           
    SP4:                          -     -     -           -                 -                           
    SP5:                                      -                                                         


    ECgene alternative splicing isoforms for APH1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    APH1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATCGTAGG
    APH1A Expression
    About this image


    APH1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    APH1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APH1A Protein Expression

    SOURCE 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 nearly expressed at the same level

        Pathway & Disease-focused RT2 Profiler PCR Array including APH1A: 
              Alzheimer's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for APH1A gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aph1a1 , 5 anterior pharynx defective 1a homolog (C. elegans)1, 5 94.72(n)1
    99.25(a)1
      3 (41.47 cM)5
    2265481  NM_146134.21  NP_666246.11 
     958939965 
    chicken
    (Gallus gallus)
    Aves LOC4312431 gamma-secretase subunit APH-1A-like 72.96(n)
    78.11(a)
      431243  XM_428797.4  XP_428797.3 
    lizard
    (Anolis carolinensis)
    Reptilia APH1A6
    APH1A gamma secretase subunit
    78(a)
    1 ↔ 1
    GL343697.1(64992-91377)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041286.12   -- 74.9(n)    BC041286.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aph1b2 anterior pharynx defective 1B 75.58(n)   386808  AY423036.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta aph-11 anterior pharynx defective 1 54.69(n)
    49.35(a)
      33467  NM_001273034.1  NP_001259963.1 
    worm
    (Caenorhabditis elegans)
    Secernentea aph-11 aph-1 43.55(n)
    37.19(a)
      172747  NM_060068.5  NP_492469.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G314401 AT2G31440 46.53(n)
    29.21(a)
      817702  NM_128701.2  NP_565724.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02726001 Os02g0272600 48.35(n)
    32.67(a)
      4328988  NM_001053062.1  NP_001046527.1 


    ENSEMBL Gene Tree for APH1A (if available)
    TreeFam Gene Tree for APH1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APH1A gene
    APH1B2  
    1 SIMAP similar gene for APH1A using alignment to 2 protein entries:     APH1A_HUMAN (see all proteins):
    APH1B

    APH1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APH1A (see all 238)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1449164691,2
    --156738391(+) GTTTGC/GGATAT 7 -- int10--------
    rs1479447901,2
    --156738529(+) TTCTGA/CCTTTA 7 -- int10--------
    rs22981611,2
    C,F,O,A,H--156738681(+) GGGAAA/GACACT 7 -- int134Minor allele frequency- G:0.33EA NS NA WA CSA 4412
    rs32093951,2
    C--156738989(-) TTGTAG/TTTTTT 7 -- nc-transcript-variantut311Minor allele frequency- T:0.00MN 184
    rs1925346461,2
    C--156738999(+) AAAAAA/GTCTCC 7 -- nc-transcript-variantut310--------
    rs1418697951,2
    C--156739154(+) GTAATA/GCCAGT 7 -- nc-transcript-variantut310--------
    rs1455202771,2
    C--156739217(+) GGGACC/TGAAAT 7 -- nc-transcript-variantut310--------
    rs1847608491,2
    C--156739218(+) GGACCA/C/GAAATG 14 -- nc-transcript-variantut310--------
    rs1896239351,2
    C--156739308(+) CCCCCA/C/GACCTC 14 -- nc-transcript-variantut310--------
    rs2004326131,2
    C--156739413(+) AGTACC/TGAGAA 7 -- nc-transcript-variantut310--------

    HapMap Linkage Disequilibrium report for APH1A (150237799 - 150241980 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for APH1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv872415CNV Loss21882294

    Human Gene Mutation Database (HGMD): APH1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APH1A
    DNA2.0 Custom Variant and Variant Library Synthesis for APH1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607629    OMIM disorders: --

    9 diseases for APH1A:    
    About MalaCards
    alzheimer's disease    tonsillitis    hypoxia    malaria
    thyroiditis    cerebritis    neuronitis    endotheliitis
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for APH1A:
    Alzheimer's disease

    APH1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): APH1A
    Human Genome Epidemiology (HuGE) Navigator: APH1A (3 documents)

    Export disorders for APH1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APH1A gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with APH1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. aph-1 and pen-2 are required for Notch pathway signaling, gamma- secretase cleavage of betaAPP, and presenilin protein accumulation. (PubMed id 12110170)1, 2, 3 Francis R....Curtis D. (Dev. Cell 2002)
    2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    3. APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity. (PubMed id 12763021)1, 2, 9 Marlow L....Sambamurti K. (Biochem. Biophys. Res. Commun. 2003)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Association between promoter polymorphisms in anterior pharynx-defective-1a and sporadic Alzheimer's disease in the North Chinese Han population. (PubMed id 19368855)1, 4 Wang Y. and Jia J. (Neurosci. Lett. 2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Membrane topology and nicastrin-enhanced endoproteolysis of APH-1, a component of the gamma-secretase complex. (PubMed id 14593096)1, 2 Fortna R.R....Doms R.W. (J. Biol. Chem. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Reconstitution of gamma-secretase activity. (PubMed id 12679784)1, 2 Edbauer D.... Haass C. (Nat. Cell Biol. 2003)
    10. 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)1, 2 Gu Y....St George-Hyslop P.H. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51107 HGNC: 29509 AceView: APH-1A Ensembl:ENSG00000117362 euGenes: HUgn51107
    ECgene: APH1A Kegg: 51107 H-InvDB: APH1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APH1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APH1A gene:
    Search GeneIP for patents involving APH1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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