Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APH1A Gene

protein-coding   GIFtS: 62
GCID: GC01M150237

anterior pharynx defective 1 homolog A (C. elegans)
 Explore 3 diseases affiliated with
APH1A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for APH1A    

Aliases
for APH1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Anterior Pharynx Defective 1 Homolog A (C. Elegans)1 2     Aph-1alpha3
APH-1A1 2     Gamma-Secretase Subunit APH-1A2
CGI-781 2     APH-1a3
Presenilin-Stabilization Factor2 3     Aph-1alpha3
6530402N02Rik2     PSF3
APH-12     

External Ids:    HGNC: 295091   Entrez Gene: 511072   Ensembl: ENSG000001173627   OMIM: 6076295   UniProtKB: Q96BI33   
ORGUL members:         
NONCODE:n411746 n411747 n411745    

Export aliases for APH1A gene to outside databases

Previous GC identifers: GC01M147051 GC01M148504 GC01M121616


Summaries
for APH1A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for APH1A:
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)

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




Genomic Views
for APH1A gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: APH1A promoter sequence
   Search SABiosciences Chromatin IP Primers for APH1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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)

  • n411745
  • n411747
  • n411746
150237798 150239704 150241609 chr1

Proteins
for APH1A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96BI3

    • APH1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    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 (see all 2): APH1A
    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 ProSpec Recombinant Proteins
    Uscn Proteins for APH1A

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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 to plasma membrane IDA15274632


    APH1A for ontologies           About GeneDecksing



    APH1A Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of APH1A
    R&D Systems Antibodies for APH1A
    OriGene Antibodies (see all 3): APH1A
    OriGene Custom Antibody Services for APH1A 
    GenScript Superior Antibodies for APH1A
    Novus Biologicals APH1A Antibodies
    Abcam antibodies for APH1A 
    Uscn Antibodies for APH1A
    ThermoFisher Antibody for APH1A

    Assay Products for APH1A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APH1A
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for APH1A

    Protein Domains /
    Families
    for APH1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    APH1A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009294 Aph-1

    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


    Function
    for APH1A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): APH1A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APH1A
    8/44 QIAGEN miScript miRNA 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 plasmid: APH1A 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APH1A (see all 7)
    OriGene shRNA RFP: APH1A
    OriGene siRNA: APH1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APH1A

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APH1A (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APH1A (see all 3)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APH1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1A 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for APH1A
    Search LifeMap BioReagents cell lines for APH1A

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1A

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IEA--
    GO:0005515protein binding IPI12297508


    APH1A for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for APH1A: Aph1atm1Pcw Aph1atm1.1Bdes
         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Aph1a):
     cardiovascular system  craniofacial  embryogenesis  growth/size  mortality/aging 
     muscle  nervous system  normal  skeleton 

    APH1A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for APH1A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    8/10 pathways (see all 10)
    		Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant1.00
    		FBXW7 Mutants and NOTCH1 in Cancer1.00
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer1.00
    		Signaling by NOTCH11.00
    		Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer1.00
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    		Signaling by NOTCH1 in Cancer1.00
    		Signaling by NOTCH0.77
    2NOTCH2 Activation and Transmission of Signal to the Nucleus
    		NOTCH2 Activation and Transmission of Signal to the Nucleus1.00
    		Activated NOTCH1 Transmits Signal to the Nucleus0.58
    		Signaling by NOTCH21.00
    3Notch Signaling Pathway
    		Notch Signaling Pathway1.00
    		Delta-Notch Signaling Pathway0.27
    		Notch signaling pathway0.82
    4Development_Notch Signaling Pathway
    		Development_Notch Signaling Pathway1.00
    		Development Notch Signaling Pathway0.97
    5Cell death signalling via NRAGE, NRIF and NADE
    		Cell death signalling via NRAGE, NRIF and NADE1.00
    		p75 NTR receptor-mediated signalling0.73

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for APH1A
        Development Notch Signaling 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

    5/7 BioSystems Pathways for APH1A (see all 7) 
        Notch Signaling Pathway
    Alzheimers Disease
    Delta-Notch Signaling Pathway
    Presenilin action in Notch and Wnt signaling
    Syndecan-3-mediated signaling events

    5/25        Reactome Pathways for APH1A (see all 25)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NRIF signals cell death from the nucleus
    A third proteolytic cleavage releases NICD
    FBXW7 Mutants and NOTCH1 in Cancer
    Cell death signalling via NRAGE, NRIF and NADE


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


    APH1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APH1A

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

    5/43 Interacting proteins for APH1A (Q96BI32, 3 ENSP000003581054) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCSTNQ925422, 3, ENSP000002947854MINT-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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development IEA--
    GO:0006509membrane protein ectodomain proteolysis IDA15274632
    GO:0006915apoptotic process TAS--
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS--


    APH1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for APH1A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for APH1A:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APH1A
    Search CenterWatch for drugs/clinical trials and news about APH1A 

    Transcripts
    for APH1A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone (see all 2): APH1A
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APH1A
    8/44 QIAGEN miScript miRNA 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 plasmid: APH1A 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APH1A (see all 7)
    OriGene shRNA RFP: APH1A
    OriGene siRNA: APH1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APH1A
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APH1A (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APH1A (see all 3)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for APH1A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APH1A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APH1A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APH1A

    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 NR_045033.1 NR_045034.1 NR_045035.1 

    24/26 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 

    24/537 AceView cDNA sequences (see all 537):

    BU178482 BQ012743 BC017699 CR591178 BG253442 BI870944 CR590583 CR594282 
    AI308919 AW197165 BP340335 CR597912 AI583196 CR605320 BP377710 CR596144 
    BU738649 AY358951 AI250157 N91321 BQ012310 BM790699 AI217102 BM768099 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for APH1A gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    APH1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACATCGTAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See APH1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APH1A

    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

        SABiosciences Expression via Pathway-Focused PCR Array including APH1A: 
              Alzheimer's Disease in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APH1A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APH1A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APH1A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APH1A
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1A

    Orthologs
    for APH1A gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for APH1A gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOC4312431 gamma-secretase subunit APH-1A-like 72.96(n)
    78.11(a)    		   431243  XM_428797.3  XP_428797.3 
    lizard
    (Anolis carolinensis)    		 Reptilia APH1A6
    		 --
    		 78(a)
    		 1 ↔ 1
    		 GL343697.1(65055-91285)
    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_134866.2  NP_608710.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea aph-11 Protein APH-1 43.22(n)
    36.18(a)    		   172747  NM_060068.4  NP_492469.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G314401 gamma-secretase subunit APH1-like protein 46.53(n)
    29.21(a)    		   817702  NM_128701.2  NP_565724.1 
    rice
    (Oryza sativa)    		 Liliopsida Os02g02726001 hypothetical protein 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
    for APH1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for APH1A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/191 NCBI SNPs in APH1A are shown (see all 191)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1418697951,2
    		C,--121616764(+) GTAATA/GCCAGT 7 -- ut31 nc-transcript-variant0--------
    rs1455202771,2
    		C,--121616827(+) GGGACC/TGAAAT 7 -- ut31 nc-transcript-variant0--------
    rs1847608491,2
    		C,--121616828(+) GGACCA/C/GAAATG 14 -- ut31 nc-transcript-variant0--------
    rs1896239351,2
    		C,--121616918(+) CCCCCA/C/GACCTC 14 -- ut31 nc-transcript-variant0--------
    rs716226851,2
    		C--121617240(+) TCACCC/G/TGACTG 16 Q P R mis1 ut311NA 2
    rs741266341,2
    		C,--121617260(+) CGTCGG/CCCTGC 9 /C /W mis1 ut311Minor allele frequency- C:0.50WA 2
    rs115482671,2
    		C,F,H,--121617366(-) TCTGCA/GCTTAT 7 -- int1 ut31 nc-transcript-variant12Minor allele frequency- G:0.10NS EA NA 1072
    rs2016803811,2
    		C,F--121617559(+) GCAGGT/GGGGAT 7 -- int1 ut31 nc-transcript-variant1Minor allele frequency- G:0.00EU 1031
    rs178494491,2
    		C--121617627(+) TCGGAG/TGGACC 11 I L mis1 ese30--------
    rs96589361,2
    		H--121617655(+) GCCCAG/AAGCCC 11 /L syn1 ese34Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for APH1A (150237799 - 150241980 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for APH1A: --
    Human Gene Mutation Database (HGMD): APH1A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APH1A
    DNA2.0 Custom Variant and Variant Library Synthesis for APH1A

    Disorders / Diseases
    for APH1A gene

    (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.)
    About This Section
    APH1A for disorders           About GeneDecksing

    OMIM gene information: 607629    OMIM disorders: --

    3 diseases for APH1A:    About MalaCards
    alzheimer's disease    hypoxia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for APH1A:
    Alzheimer's disease
    Human Genome Epidemiology (HuGE) Navigator: APH1A (3 documents)

    Export disorders for APH1A gene to outside databases

    Publications
    for APH1A gene

    (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)
    About This Section

    PubMed articles for APH1A gene, integrated from 9 sources (see all 57):
    (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. (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. (2000)
    3. APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity. (PubMed id 12763021)1, 2, 9 Marlow L....Sambamurti K. (2003)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2004)
    6. 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. (2004)
    7. Reconstitution of gamma-secretase activity. (PubMed id 12679784)1, 2 Edbauer D.... Haass C. (2003)
    8. 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. (2003)
    9. Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PubMed id 12740439)1, 2 Kimberly W.T....Selkoe D.J. (2003)
    10. PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1. (PubMed id 12522139)1, 2 Luo W.-J.... Xu H. (2003)

    External Searches for APH1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing APH1A gene

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

    Other Databases showing APH1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing APH1A gene

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

    Intellectual Property
    for APH1A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for APH1A gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore small molecules (inhibitor) for APH1A
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of APH1A
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for APH1A (APH1A)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for APH1A   OriGene shRNA RFP for APH1A  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APH1A   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APH1A  
     OriGene Protein Over-expression Lysate for APH1A   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for APH1A   OriGene 3'-UTR Clone for APH1A  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APH1A   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APH1A  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for APH1A   OriGene Custom Protein Services for APH1A  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APH1A
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APH1A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APH1A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APH1A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APH1A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APH1A
     GenScript Custom Purified and Recombinant Proteins Services for APH1A GenScript cDNA clones with any tag delivered in your preferred vector for APH1A
     GenScript Custom Assay Services for APH1A GenScript Superior Antibodies for APH1A
     GenScript Custom overexpressing Cell Line Services for APH1A CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in APH1A promoter
     Search Chromatin IP Primers for APH1A
     RT2 qPCR Primer Assay in human, mouse, rat APH1A
     Search GNC Networks for APH1A
     SABiosciences PCR Arrays including human, mouse, rat APH1A
     Search Tocris compounds for APH1A
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     APH1A antibodies
     APH1A proteins
     APH1A lysates
     Antibodies for APH1A
     See all of Abcam's Antibodies, Kits and Proteins for APH1A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     APH1A Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for APH1A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1A
     SwitchGear 3'UTR luciferase reporter plasmids for APH1A
     SwitchGear Promoter luciferase reporter plasmids for APH1A
     ThermoFisher Antibody for APH1A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1A
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      APH1A gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4