Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



APH1B Gene

protein-coding   GIFtS: 60
GCID: GC15P065755

APH1B Gamma Secretase Subunit

(Previous name: anterior pharynx defective 1 homolog B (C. elegans))
  Search for APH1B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
APH1B Gamma Secretase Subunit1 2     Anterior Pharynx Defective 1 Homolog B2
PSFL2 3     aph-1beta2
Anterior Pharynx Defective 1 Homolog B (C. Elegans)1     Gamma-Secretase Subunit APH-1B2
APH-1B2     APH-1b3
PRO13282     Aph-1beta3
TAAV6882     Presenilin-Stabilization Factor-Like3

External Ids:    HGNC: 240801   Entrez Gene: 834642   Ensembl: ENSG000001386137   OMIM: 6076305   UniProtKB: Q8WW433   

Export aliases for APH1B gene to outside databases

Previous GC identifers: GC15P061357 GC15P063569 GC15P040392 GC15P063647 GC15P064360 GC15P064873


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

TryGeneCards Plus

Entrez Gene summary for APH1B Gene:
This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase
complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the
presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins
such as notch receptors and beta-amyloid precursor protein. (provided by RefSeq, Sep 2011)

GeneCards Summary for APH1B Gene:
APH1B (APH1B gamma secretase subunit) is a protein-coding gene. GO annotations related to this gene include peptidase activity. An important paralog of this gene is APH1A.

UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
Function: Probable 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. Probably present in a minority of gamma-secretase complexes compared to APH1A




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the APH1B gene promoter:
         AML1a   FOXF2   GATA-3   p53   IRF-1   Nkx2-5   HNF-3beta   LCR-F1   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPH1B promoter sequence
   Search Chromatin IP Primers for APH1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APH1B


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

Entrez Gene cytogenetic band: 15q22.2   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22.2

APH1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APH1B gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P065755:  view genomic region     (about GC identifiers)

Start:
63,568,217 bp from pter      End:
63,601,325 bp from pter
Size:
33,109 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43 (See protein sequence)
Recommended Name: Gamma-secretase subunit APH-1B  
Size: 257 amino acids; 28460 Da
Subunit: Probable 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 (By similarity). Interacts with PSEN1 and PSEN2
Secondary accessions: A8K589 Q564N3 Q6UWQ1 Q9H0S0
Alternative splicing: 2 isoforms:  Q8WW43-1   Q8WW43-2   (Expressed at low levels in most tissues)

Explore the universe of human proteins at neXtProt for APH1B: NX_Q8WW43

Explore proteomics data for APH1B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92, Lys247
  • Modification sites at PhosphoSitePlus

  • See APH1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139118.1  NP_112591.2  

    ENSEMBL proteins: 
     ENSP00000453002   ENSP00000261879   ENSP00000369700   ENSP00000369697   ENSP00000453327  
     ENSP00000453516  
    Reactome Protein details: Q8WW43

    APH1B 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
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for APH1B
    GenScript Custom Purified and Recombinant Proteins Services for APH1B
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APH1B

     
    Search eBioscience for Proteins for APH1B 

    APH1B Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of APH1B
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for APH1B
    Novus Biologicals APH1B Antibody
    Abcam antibodies for APH1B
    Cloud-Clone Corp. Antibodies for APH1B
    Search ThermoFisher Antibodies for APH1B
    LSBio Antibodies in human, mouse, rat for APH1B

    APH1B Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for APH1B
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APH1B
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APH1B
    Cloud-Clone Corp. CLIAs for APH1B
    Search eBioscience for ELISAs for APH1B 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR009294 Aph-1

    Graphical View of Domain Structure for InterPro Entry Q8WW43

    ProtoNet protein and cluster: Q8WW43

    1 Blocks protein domain: IPB009294 Aph-1

    UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
    Similarity: Belongs to the APH-1 family


    Find genes that share domains with APH1B           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APH1B_HUMAN, Q8WW43
    Function: Probable 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. Probably present in a minority of gamma-secretase complexes compared to APH1A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12297508
    GO:0008233peptidase activity IDA12297508
         
    Find genes that share ontologies with APH1B           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Aph1b):
     normal 

    Find genes that share phenotypes with APH1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aph1btm1Bdes for APH1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APH1B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APH1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APH1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APH1B

    miRNA
    Products:
        
    miRTarBase miRNAs that target APH1B:
    hsa-mir-375 (MIRT019680)

    Block miRNA regulation of human, mouse, rat APH1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APH1B (see all 24):
    hsa-miR-644 hsa-miR-520d-5p hsa-miR-181c hsa-miR-340 hsa-miR-218 hsa-miR-4267 hsa-miR-374a* hsa-miR-124
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APH1B
    Predesigned siRNA for gene silencing in human, mouse, rat APH1B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APH1B

    Clone
    Products:
         
    OriGene clones in human, mouse for APH1B (see all 11)
    OriGene ORF clones in mouse, rat for APH1B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): APH1B (NM_031301)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APH1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1B

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for APH1B
    Browse ESI BIO Cell Lines and PureStem Progenitors for APH1B 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    APH1B_HUMAN, Q8WW43: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IDA12297508
    GO:0030133transport vesicle IDA--

    Find genes that share ontologies with APH1B           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for APH1B About   (see all 15)  
    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
    2Signaling 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
    3p75 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
    4Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    Signaling by NOTCH20.67
    5Signaling by FGFR
    Signalling by NGF0.71


    Find genes that share SuperPaths with APH1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for APH1B
        Molecular Mechanisms of Cancer
    Presenilin-Mediated Signaling
    ErbB4 Pathway

    3 GeneGo (Thomson Reuters) Pathways for APH1B
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway
    Development MAG-dependent inhibition of neurite outgrowth

    Selected BioSystems Pathways for APH1B (see all 6)
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Syndecan-3-mediated signaling events
    p75(NTR)-mediated signaling
    Presenilin action in Notch and Wnt signaling

    Selected Reactome Pathways for APH1B (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 APH1B):
        Notch signaling pathway
    Alzheimer's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APH1B
    Interactions:

        Search GeneGlobe Interaction Network for APH1B

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

    Selected Interacting proteins for APH1B (Q8WW433 ENSP000002618794) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSEN1P497683, ENSP000003263664I2D: score=1 STRING: ENSP00000326366
    PSEN2P498103, ENSP000003557474I2D: score=1 STRING: ENSP00000355747
    NCSTNQ925423, ENSP000002947854I2D: score=1 STRING: ENSP00000294785
    APH1AENSP000003581054STRING: ENSP00000358105
    NOTCH1ENSP000002775414STRING: ENSP00000277541
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS--
    GO:0016485protein processing IDA12297508
    GO:0031293membrane protein intracellular domain proteolysis TAS--
    GO:0043065positive regulation of apoptotic process TAS--

    Find genes that share ontologies with APH1B           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for APH1B (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 APH1B



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for APH1B gene (2 alternative transcripts): 
    NM_001145646.1  NM_031301.3  

    Unigene Cluster for APH1B:

    Anterior pharynx defective 1 homolog B (C. elegans)
    Hs.511703  [show with all ESTs]
    Unigene Representative Sequence: NM_031301
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560890 ENST00000559744 ENST00000261879(uc002ama.3 uc002amb.3 uc010bgq.3)
    ENST00000380343 ENST00000380340 ENST00000560353 ENST00000559971 ENST00000558631
    ENST00000559823 ENST00000560716
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat APH1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APH1B (see all 24):
    hsa-miR-644 hsa-miR-520d-5p hsa-miR-181c hsa-miR-340 hsa-miR-218 hsa-miR-4267 hsa-miR-374a* hsa-miR-124
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for APH1B
    Predesigned siRNA for gene silencing in human, mouse, rat APH1B
    Clone
    Products:
         
    OriGene clones in human, mouse for APH1B (see all 11)
    OriGene ORF clones in mouse, rat for APH1B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): APH1B (NM_031301)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APH1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1B
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for APH1B
    OriGene qSTAR qPCR primer pairs in human, mouse for APH1B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APH1B
      QuantiTect SYBR Green Assays in human, mouse, rat APH1B
      QuantiFast Probe-based Assays in human, mouse, rat APH1B

    Additional mRNA sequence: 

    AB189172.1 AF508794.1 AK057677.1 AK291204.1 AK307456.1 AK307725.1 AK310843.1 AL136671.1 
    AY358698.1 BC020905.1 

    6 DOTS entries:

    DT.311571  DT.112952  DT.75197896  DT.95075202  DT.100842028  DT.92022917 

    Selected AceView cDNA sequences (see all 164):

    AW016528 CB157442 AA887975 AI760754 BX109247 AW628257 AX776001 AA600030 
    CA431257 CA397429 AW573194 BU617251 N79565 CA309393 AI143454 BG210489 
    BI825203 CD672791 AA808355 AI279316 BM728654 BE669936 AI911870 AI819888 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APH1B (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d
    SP1:                                -                       -                 -           -                           
    SP2:        -     -     -     -     -     -                 -                 -           -                           
    SP3:                                -     -                 -                 -           -                           
    SP4:                                -     -                 -     -     -     -           -                           
    SP5:                                -     -                 -                 -     -     -                           


    ECgene alternative splicing isoforms for APH1B

    (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

    TryGeneCards Plus

    APH1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCACCTGGG
    APH1B Expression
    About this image


    APH1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Brain (Nervous System)
             Cerebral Cortex
    APH1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APH1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.511703

    UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
    Tissue specificity: Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen
    thymus, colon, skeletal muscle, heart and brain

        Custom PCR Arrays for APH1B
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for APH1B
    OriGene qSTAR qPCR primer pairs in human, mouse for APH1B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APH1B
    QuantiTect SYBR Green Assays in human, mouse, rat APH1B
    QuantiFast Probe-based Assays in human, mouse, rat APH1B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1B

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for APH1B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aph1b1 , 5 anterior pharynx defective 1b homolog (C. elegans)1, 5 86.64(n)1
    84.05(a)1
      9 (36.12 cM)5
    2081171  NM_177583.41  NP_808251.11 
     667752025 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    55(a)
    many ↔ many
    Z(9080465-9084896)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    many ↔ many
    AAWZ02041254(1301-1692)
    zebrafish
    (Danio rerio)
    Actinopterygii aph1b6
    anterior pharynx defective 1B
    63(a)
    1 ↔ 1
    7(30513432-30523444) ENSDARG00000005612
    fruit fly
    (Drosophila melanogaster)
    Insecta aph-16
    anterior pharynx defective 1
    46(a)
    1 → many
    2L(2766235-2767154)
    worm
    (Caenorhabditis elegans)
    Secernentea aph-16
    Protein APH-1 (aph-1) mRNA, complete cds
    24(a)
    1 → many
    I(9232067-9233562) WBGene00000147


    ENSEMBL Gene Tree for APH1B (if available)
    TreeFam Gene Tree for APH1B (if available)

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

    TryGeneCards Plus
    Paralogs for APH1B gene
    APH1A2  
    2 SIMAP similar genes for APH1B using alignment to 4 protein entries:     APH1B_HUMAN (see all proteins):
    APH-1b    APH1A

    Find genes that share paralogs with APH1B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for APH1B
    PGOHUM00000233455


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for APH1B (see all 766)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1131694291,2
    C--43628821(+) ACAAGT/-ATCTC 2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1171674361,2
    F--43628827(+) ATCTCA/CGTCTC 2 -- us2k11Minor allele frequency- C:0.01NA 120
    rs1412054771,2
    C--43628834(+) TCTCAA/GGGCAT 2 -- us2k10--------
    rs1507383001,2
    --63567765(+) GAGGCC/TGAGGT 2 -- us2k10--------
    rs1870201291,2
    --63567857(+) CCCAGC/GCATGG 2 -- us2k10--------
    rs765396021,2
    --63568095(+) AAGCCC/GGAACC 2 -- us2k10--------
    rs1152608391,2
    C,F--63568152(+) AGCTCA/TTTAGT 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1917511071,2
    --63568301(+) TTTCCA/GTATCT 2 -- us2k10--------
    rs1498745221,2
    C--63568308(+) ATCTTC/TACAAA 2 -- us2k10--------
    rs734432991,2
    C--63568466(+) GGTAAT/CGTTTT 2 -- us2k12Minor allele frequency- C:0.21WA 120

    HapMap Linkage Disequilibrium report for APH1B (63568217 - 63601325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for APH1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428305CNV Gain18775914

    Human Gene Mutation Database (HGMD): APH1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APH1B
    DNA2.0 Custom Variant and Variant Library Synthesis for APH1B

    (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

    TryGeneCards Plus
    OMIM gene information: 607630    OMIM disorders: --


    Find genes that share disorders with APH1B           About GenesLikeMe

    Genetic Association Database (GAD): APH1B
    Human Genome Epidemiology (HuGE) Navigator: APH1B (5 documents)

    Export disorders for APH1B 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for APH1B gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with APH1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. Interaction between the APOE epsilon4 allele and the APH-1b c + 651T &gt; G SNP in Alzheimer's disease. (PubMed id 17466415)1, 4, 9 Poli M....Finazzi D. (Neurobiol. Aging 2008)
    3. Correlation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations. (PubMed id 19774691)1, 4 van Loo K.M....Martens G.J. (J. Med. Virol. 2009)
    4. Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis. (PubMed id 18987747)1, 4 van Loo K.M....Martens G.J. (PLoS ONE 2008)
    5. Identification and characterization of a novel human APH-1b splice variant lacking exon 4. (PubMed id 15823552)1, 2 Saito S.... Araki W. (Biochem. Biophys. Res. Commun. 2005)
    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. 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)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. aph-1 and pen-2 are required for Notch pathway signaling, gamma- secretase cleavage of betaAPP, and presenilin protein accumulation. (PubMed id 12110170)1, 3 Francis R....Curtis D. (Dev. Cell 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 83464 HGNC: 24080 AceView: PSFL Ensembl:ENSG00000138613 euGenes: HUgn83464
    ECgene: APH1B Kegg: 83464 H-InvDB: APH1B

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for APH1B Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for APH1B gene:
    Search GeneIP for patents involving APH1B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     EMD Millipore Mono- and Polyclonal Antibodies for the study of APH1B
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     cDNA Clones for APH1B (APH1B)   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for APH1B  
     OriGene qPCR primer pairs and template standards for APH1B   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for APH1B  
     OriGene qSTAR qPCR primer pairs in human, mouse for APH1B   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for APH1B   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for APH1B   OriGene Custom Protein Services for APH1B  

     
     
     Block miRNA regulation of human, mouse, rat APH1B using miScript Target Protectors SeqTarget long-range PCR primers for resequencing APH1B
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APH1B Predesigned siRNA for gene silencing in human, mouse, rat APH1B
     QuantiFast Probe-based Assays in human, mouse, rat APH1B QuantiTect SYBR Green Assays in human, mouse, rat APH1B
     Custom PCR Arrays for APH1B Search Chromatin IP Primers for APH1B
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APH1B  Search GeneGlobe Interaction Network for APH1B
     Regulatory tfbs in APH1B promoter
     GenScript Custom Purified and Recombinant Proteins Services for APH1B GenScript cDNA clones with any tag delivered in your preferred vector for APH1B
     GenScript Custom Assay Services for APH1B GenScript Custom overexpressing Cell Line Services for APH1B
     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

     Search Tocris compounds for APH1B
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     APH1B antibodies
     Antibodies for APH1B
     See all of Abcam's Antibodies, Kits and Proteins for APH1B
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for APH1B
     Antibodies for APH1B
     ELISAs for APH1B
     CLIAs for APH1B



     Browse ESI BIO Cell Lines and PureStem Progenitors for APH1B
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APH1B
     Browse SwitchGear 3'UTR luciferase reporter plasmids for APH1B
     SwitchGear Promoter luciferase reporter plasmids for APH1B
     Search ThermoFisher Antibodies for APH1B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APH1B
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APH1B
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APH1B
     LSBio Antibodies in human, mouse, rat for APH1B
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     ApexBio compounds for APH1B
     Search Addgene for plasmids for APH1B
      Search eBioscience for proteins for APH1B
      Search eBioscience for elisas for APH1B
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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

    Hot genes      Disease genes      APH1B gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4