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

APH1B Gene

protein-coding   GIFtS: 59
GCID: GC15P064873

APH1B Gamma Secretase Subunit

(Previous name: anterior pharynx defective 1 homolog B (C. elegans))
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

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


(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 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. Diseases associated with APH1B include atherosclerosis, and alzheimer's disease, and among its related super-pathways are Notch signaling pathway and Development NOTCH1-mediated pathway for NF-KB activity modulation. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for APH1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC15P064873:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WW43

  • APH1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APH1B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001139118.1  NP_112591.2  

    ENSEMBL proteins: 
     ENSP00000453002   ENSP00000261879   ENSP00000369700   ENSP00000369697   ENSP00000453327  
     ENSP00000453516  
    Reactome Protein details: Q8WW43
    Human Recombinant Protein Products for APH1B: 
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    Cloud-Clone Corp. Proteins for APH1B 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    APH1B for ontologies           About GeneDecksing



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


    APH1B 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12297508
    GO:0008233peptidase activity IDA12297508
         
    APH1B for ontologies           About GeneDecksing


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

    APH1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aph1btm1Bdes for APH1B

       inGenious Targeting Laboratory - Custom generated mouse model solutions for APH1B 
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    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
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for APH1B About   (see all 18)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development NOTCH1-mediated pathway for NF-KB activity modulation0.88
    Development Notch Signaling Pathway0.54
    3Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    4Signaling by NOTCH3
    Signaling by NOTCH30.83
    A third proteolytic cleavage releases NICD0.43
    Signaling by NOTCH40.83
    5NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    Activated NOTCH1 Transmits Signal to the Nucleus0.59
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.66

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for APH1B
        Development Notch Signaling 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

    5/6 BioSystems Pathways for APH1B (see all 6)
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    p75(NTR)-mediated signaling
    Presenilin action in Notch and Wnt signaling
    Syndecan-3-mediated signaling events

    5/25        Reactome Pathways for APH1B (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 APH1B):
        Notch signaling pathway
    Alzheimer's disease


    APH1B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APH1B

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

    5/34 Interacting proteins for APH1B (Q8WW431, 3 ENSP000002618794) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSEN2P498101, 3, ENSP000003557474EBI-2606497,EBI-2010251 I2D: score=1 STRING: ENSP00000355747
    PSEN1P497683, ENSP000003263664I2D: score=1 STRING: ENSP00000326366
    NCSTNQ925423, ENSP000002947854I2D: score=1 STRING: ENSP00000294785
    ADAM10ENSP000002604084STRING: ENSP00000260408
    APH1AENSP000003581054STRING: ENSP00000358105
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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--

    APH1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 APH1B:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APH1B

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    8/24 QIAGEN miScript miRNA 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
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    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 

    24/164 AceView cDNA sequences (see all 164):

    BF431379 AA808355 BX109247 AX776001 CB157442 N79565 AI911870 AI023997 
    CA309393 AW016528 BE218843 AA600030 BU732751 AI143454 BE669936 BU617251 
    BX398327 AI760754 AW628257 AA887975 BM553205 CB163215 BI825203 AI819888 

    GeneLoc Exon Structure

    5/8 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™, 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

    APH1B expression in normal human tissues (normalized intensities)      APH1B embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
             sperm   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
             bone marrow-derived macrophages   
     
     Ovary (Reproductive System)
             oocyte   
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Kidney (Urinary System)

    See APH1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APH1B

    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

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for APH1B gene from 4/10 species (see all 10)    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 
    zebrafish
    (Danio rerio)
    Actinopterygii aph1b6
    anterior pharynx defective 1B
    60(a)
    1 ↔ 1
    7(30513432-30523444)
    fruit fly
    (Drosophila melanogaster)
    Insecta aph-16
    anterior pharynx defective 1
    46(a)
    1 → many
    2L(2766235-2767154)
    worm
    (Caenorhabditis elegans)
    Secernentea aph-16
    Gamma-secretase subunit aph-1
    25(a)
    1 → many
    I(9232067-9233562)


    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
    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

    APH1B for paralogs           About GeneDecksing


    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) 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

    10/766 SNPs in APH1B are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607630    OMIM disorders: --

    3 diseases for APH1B:    About MalaCards
    atherosclerosis    alzheimer's disease    neuronitis


    APH1B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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

    PubMed articles for APH1B gene, integrated from 9 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. (2001)
    2. Interaction between the APOE varepsilon4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease. (PubMed id 17466415)1, 4, 9 Poli M....Finazzi D. (2007)
    3. Correlation between HIV-1 seropositivity and prevalen ce of a gamma-secretase polymorphism in two distinct ethnic populations. (PubMed id 19774691)1, 4 van Loo K.M....Martens G.J. (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. (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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (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. (2002)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83464 HGNC: 24080 AceView: PSFL Ensembl:ENSG00000138613 euGenes: HUgn83464
    ECgene: APH1B Kegg: 83464 H-InvDB: APH1B

    (According to HUGE)
    About This Section
      --

    (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 APH1B Pharmacogenomics, SNPs, Pathways

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



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    About This Section

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