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APBB1 Gene

protein-coding   GIFtS: 65
GCID: GC11M006414

Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member...


(Previous symbol: RIR)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 1
(Fe65)1 2
     Adaptor Protein FE65a22
RIR1 2 3     Amyloid Beta A4 Precursor Protein-Binding Family B Member 12
FE652 3 5     Stat-Like Protein2
MGC:90722     Protein Fe653

External Ids:    HGNC: 5811   Entrez Gene: 3222   Ensembl: ENSG000001663137   OMIM: 6027095   UniProtKB: O002133   

Export aliases for APBB1 gene to outside databases

Previous GC identifers: GC11M007159 GC11M006876 GC11M006375 GC11M006380 GC11M006355 GC11M006373 GC11M006075


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APBB1 Gene:
The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the
nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor
CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring
site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role
in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block
cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Mar 2012)

GeneCards Summary for APBB1 Gene:
APBB1 (amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)) is a protein-coding gene. Diseases associated with APBB1 include alzheimer's disease, and inclusion body myositis. GO annotations related to this gene include chromatin binding and histone binding. An important paralog of this gene is APBB2.

UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213
Function: Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that
forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP)
intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and
inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142'
(H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required
for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and
chromatin modifying enzymes such as KAT5/TIP60, probably explains its trancription activation activity. Function
in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of
CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s)

Gene Wiki entry for APBB1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APBB1 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): APBB1 promoter sequence
   Search Chromatin IP Primers for APBB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APBB1


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

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15

APBB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APBB1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M006414:  view genomic region     (about GC identifiers)

Start:
6,416,355 bp from pter      End:
6,440,644 bp from pter
Size:
24,290 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213 (See protein sequence)
Recommended Name: Amyloid beta A4 precursor protein-binding family B member 1  
Size: 710 amino acids; 77244 Da
Subunit: Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts (via PID domain 2)
with APP (with the intracellular domain of the beta-amyloid precursor protein). Interacts (via PID domain 2) with
RASD1/DEXRAS1; impairs the trancription activation activity. Interacts (via PID domain 1) with KAT5/TIP60.
Interacts (via the WW domain) with the proline-rich region of APBB1IP. Interacts with TSHZ1 and TSHZ2 (By
similarity). Interacts (via the WW domain) with histone H2AX (when phosphorylated on 'Tyr-142') and the
proline-rich region of ENAH. Interacts with MAPK8. Interacts (via PID domain 1) with TSHZ3 (via homeobox domain).
Interacts with SET. Found in a trimeric complex with HDAC1 and TSHZ3; the interaction between HDAC1 and APBB1 is
mediated by TSHZ3. Interacts (via WWW domain) with NEK6. Interacts (via WWW domain) with ABL1
Selected PDB 3D structures from and Proteopedia for APBB1 (see all 10):
2E45 (3D)        2HO2 (3D)        2IDH (3D)        2OEI (3D)        3D8D (3D)        3D8E (3D)    
Secondary accessions: A1E379 A6NH82 A6NL69 B7Z1J5 B7Z2Y0 D3DQT2 Q96A93
Alternative splicing: 4 isoforms:  O00213-1   O00213-2   O00213-3   O00213-4   (Expressed preferentially in the brain)

Explore the universe of human proteins at neXtProt for APBB1: NX_O00213

Explore proteomics data for APBB1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). Phosphorylated
    following nuclear translocation. Phosphorylation at Tyr-547 by ABL1 enhances transcriptional activation activity
    and reduces the affinity for RASD1/DEXRAS11
  • Ubiquitination2 at Lys48
  • Modification sites at PhosphoSitePlus

  • See APBB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001155.1  NP_001244248.1  NP_001244249.1  NP_001244250.1  NP_001244252.1  NP_001244254.1  NP_001244255.1  NP_663722.1  

    ENSEMBL proteins: 
     ENSP00000476846   ENSP00000476871   ENSP00000299402   ENSP00000477213   ENSP00000476776  
     ENSP00000311912   ENSP00000476442   ENSP00000477022   ENSP00000476646   ENSP00000477069  
     ENSP00000433338   ENSP00000476536   ENSP00000476647   ENSP00000374556  

    APBB1 Human Recombinant Protein Products:

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    Novus Biologicals APBB1 Proteins
    Novus Biologicals APBB1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APBB1

    APBB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of APBB1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for APBB1  (Fe65)
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    Abcam antibodies for APBB1
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    ThermoFisher Antibody for APBB1
    LSBio Antibodies in human, mouse, rat for APBB1

    APBB1 Assay Products:

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    GenScript Custom Assay Services for APBB1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APBB1
    Cloud-Clone Corp. CLIAs for APBB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR006020 PTB/PI_dom
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry O00213

    ProtoNet protein and cluster: O00213

    2 Blocks protein domains:
    IPB002349 WW domain signature
    IPB006020 Phosphotyrosine interaction domain


    UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213
    Similarity: Contains 2 PID domains
    Similarity: Contains 1 WW domain


    APBB1 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: APBB1_HUMAN, O00213
    Function: Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that
    forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP)
    intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and
    inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142'
    (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required
    for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and
    chromatin modifying enzymes such as KAT5/TIP60, probably explains its trancription activation activity. Function
    in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of
    CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s)

         Genatlas biochemistry entry for APBB1:
    amyloid beta (A4) precursor protein binding,family B,member 1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding NAS8894693
    GO:0003682chromatin binding IDA19343227
    GO:0005515protein binding IPI12972431
    GO:0008134transcription factor binding ISS--
    GO:0042393histone binding IPI19234442
         
    APBB1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Apbb1):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 
     normal 

    APBB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APBB1: Apbb1tm1Trus Apbb1tm1Quhu Apbb1tm1Her

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APBB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APBB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APBB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APBB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target APBB1:
    hsa-mir-335-5p (MIRT017493), hsa-mir-148b-3p (MIRT019356), hsa-mir-331-3p (MIRT043469)

    Block miRNA regulation of human, mouse, rat APBB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APBB1 (see all 17):
    hsa-miR-3689b hsa-miR-1245 hsa-miR-199b-5p hsa-miR-4326 hsa-miR-4308 hsa-miR-3606 hsa-miR-4268 hsa-miR-144*
    SwitchGear 3'UTR luciferase reporter plasmidAPBB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APBB1
    Predesigned siRNA for gene silencing in human, mouse, rat APBB1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for APBB1

    Clone
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    OriGene clones in human, mouse for APBB1 (see all 12)
    OriGene ORF clones in mouse, rat for APBB1
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    GenScript: all cDNA clones in your preferred vector (see all 2): APBB1 (NM_145689)
    Sino Biological Human cDNA Clone for APBB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APBB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APBB1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for APBB1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APBB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APBB1_HUMAN, O00213: Cell membrane. Cytoplasm. Nucleus. Cell projection, growth cone (By similarity). Nucleus
    speckle. Note=Colocalizes with TSHZ3 in axonal growth cone (By similarity). In normal conditions, it mainly
    localizes to the cytoplasm, while a small fraction is tethered to the cell membrane via its interaction with APP.
    Following exposure to DNA damaging agents, it is released from cell membrane and translocates to the nucleus.
    Nuclear translocation is under the regulation of APP. Colocalizes with TSHZ3 in the nucleus. Colocalizes with
    NEK6 at the nuclear speckles. Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IDA18468999
    GO:0005886plasma membrane IDA--
    GO:0016607nuclear speck IEA--
    GO:0030027lamellipodium IDA12843239

    APBB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APBB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    3Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for APBB1
        Reelin Pathway (Cajal-Retzius cells)

    2 Cell Signaling Technology (CST) Pathways for APBB1
        Neuroscience
    Tyrosine Kinases / Adaptors

    1 BioSystems Pathway for APBB1
        Alzheimers Disease



    1 Kegg Pathway  (Kegg details for APBB1):
        Alzheimer's disease


    APBB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APBB1: 
              Neurogenesis in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APBB1

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

    Selected Interacting proteins for APBB1 (O002131, 2, 3 ENSP000002994024) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 2, 3, ENSP000002849814EBI-81694,EBI-77613 MINT-8206686 MINT-8206667 MINT-8206789 I2D: score=9 STRING: ENSP00000284981
    LRP1Q079541, 2, 3, ENSP000002430774EBI-81694,EBI-1046087 MINT-8206789 MINT-8206758 MINT-8206722 I2D: score=4 STRING: ENSP00000243077
    ERBB2P046261, 2, 3, ENSP000002695714EBI-81694,EBI-641062 MINT-74467 MINT-74470 I2D: score=1 STRING: ENSP00000269571
    ATXN1P542532, 3, ENSP000002447694MINT-2856924 MINT-2856943 I2D: score=3 STRING: ENSP00000244769
    EGFRP005331, 2, 3, ENSP000002754934EBI-81694,EBI-297353 MINT-74468 MINT-74465 MINT-74469 MINT-74466 I2D: score=1 STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0006302double-strand break repair IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ISS--
    GO:0006915apoptotic process IEA--

    APBB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APBB1

    3 Novoseek inferred chemical compound relationships for APBB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 75.7 15 8537337 (2), 11517218 (2), 8894693 (1), 15031292 (1) (see all 10)
    glycogen 41.4 6 18547980 (1), 15821343 (1), 12923068 (1), 16705182 (1)
    tyrosine 0.491 5 19221419 (2), 8887653 (1)



    APBB1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APBB1 gene (10 alternative transcripts): 
    NM_001164.4  NM_001257319.2  NM_001257320.2  NM_001257321.2  NM_001257323.2  NM_001257325.2  NM_001257326.2  NM_145689.2  
    NM_001257322.1  NM_001257324.1  

    Unigene Cluster for APBB1:

    Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
    Hs.372840  [show with all ESTs]
    Unigene Representative Sequence: NM_001164
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000526240(uc001mcy.1) ENST00000608655 ENST00000608704 ENST00000299402(uc001mdb.1)
    ENST00000609360 ENST00000608435 ENST00000311051(uc001mdc.1) ENST00000608394
    ENST00000524626 ENST00000529519(uc010rab.2) ENST00000608645 ENST00000609331
    ENST00000530885 ENST00000533407(uc010rah.1) ENST00000529778(uc010rad.2)
    ENST00000526925 ENST00000533139(uc009yey.2) ENST00000529890(uc010rae.1 uc009yfa.2 uc010rag.1)

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    Selected qRT-PCR Assays for microRNAs that regulate APBB1 (see all 17):
    hsa-miR-3689b hsa-miR-1245 hsa-miR-199b-5p hsa-miR-4326 hsa-miR-4308 hsa-miR-3606 hsa-miR-4268 hsa-miR-144*
    SwitchGear 3'UTR luciferase reporter plasmidAPBB1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): APBB1 (NM_145689)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APBB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APBB1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat APBB1
      QuantiFast Probe-based Assays in human, mouse, rat APBB1

    Additional mRNA sequence: 

    AF394214.1 AK098207.1 AK293452.1 AK293550.1 AK293554.1 AK293613.1 AK293643.1 AK293711.1 
    AK294495.1 AK295241.1 AK295425.1 AK295837.1 AK297542.1 AK297544.1 AK297550.1 AK308559.1 
    AK308782.1 AK309000.1 AK309434.1 AK309445.1 AK311091.1 AK311101.1 AK311141.1 AK311149.1 
    AK311413.1 AK311725.1 AK315965.1 BC010854.2 BX538185.1 EF103274.2 L77864.1 NR_047512.1 

    16 DOTS entries:

    DT.447981  DT.100757200  DT.100835677  DT.100800233  DT.100030228  DT.91747412  DT.100792900  DT.100792895 
    DT.120699602  DT.120699630  DT.100728044  DT.100792899  DT.120699653  DT.120699668  DT.95349655  DT.92042678 

    Selected AceView cDNA sequences (see all 337):

    T31152 T16742 AA306228 CR596180 BU952604 BU740349 BM711052 BC010854 
    BM703808 CD673331 AA351414 CR606715 T09347 BQ691426 BQ064946 AI086807 
    AI218251 BM721788 BI915582 BQ688465 CD105778 CA489653 BI870505 CD674345 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APBB1 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                                                                                                                                            
    SP2:                                      -     -                                   -                                                                           
    SP3:                                      -     -     -                             -                                                                           
    SP4:                                            -     -                             -                                                                           
    SP5:                                                  -                             -                                                                           

    ExUns: 20
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for APBB1

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

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    APBB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCACCTCTG
    APBB1 Expression
    About this image


    APBB1 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
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
    APBB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APBB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.372840

    UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213
    Tissue specificity: Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer
    disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APBB1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for APBB1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apbb11 , 5 amyloid beta (A4) precursor protein-binding, family more1, 5 90.33(n)1
    94.65(a)1
      7 (55.90 cM)5
    117851  NM_001253885.11  NP_001240814.11 
     1055584865 
    chicken
    (Gallus gallus)
    Aves APBB16
    amyloid beta (A4) precursor protein-binding, famil...
    55(a)
    1 ↔ 1
    1(193600925-193604921) ENSGALG00000029159
    lizard
    (Anolis carolinensis)
    Reptilia APBB16
    amyloid beta (A4) precursor protein-binding, famil...
    72(a)
    1 ↔ 1
    GL344762.1(3854-6181)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37072 Xenopus laevis transcribed sequence with moderate similarity more 71.36(n)    BJ068560.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apbb11 amyloid beta (A4) precursor protein-binding, family more 59.92(n)
    57.26(a)
      565164  XM_005155587.1  XP_005155644.1 
    worm
    (Caenorhabditis elegans)
    Secernentea feh-16
    Protein FEH-1, isoform a (feh-1) mRNA, complete cd...
    24(a)
    1 → many
    III(2549927-2560686) WBGene00001410


    ENSEMBL Gene Tree for APBB1 (if available)
    TreeFam Gene Tree for APBB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APBB1 gene
    APBB22  APBB32  
    4 SIMAP similar genes for APBB1 using alignment to 8 protein entries:     APBB1_HUMAN (see all proteins):
    DKFZp686G05200    APBB2    Fe65L2 isoform 484    APBB3

    APBB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APBB1 (see all 616)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81641,2
    C,F,O,A,H--6330221(+) AAAGGG/ATGAAA 9 -- ds5001 int123Minor allele frequency- A:0.16MN NA NS EA WA CSA 2392
    rs18031601,2
    C,F,H--6330250(+) GGTTCA/CACCAG 9 -- ds5001 int19Minor allele frequency- C:0.03MN NS EA NA WA 724
    rs1384996161,2
    --6330259(+) AGGCAA/GGATCA 9 -- ds5001 int10--------
    rs122737141,2
    C,F,H--6330267(+) TCATCC/TGGTGA 9 -- ds5001 int19Minor allele frequency- T:0.02NS EA NA WA CSA 524
    rs1429427041,2
    --6330270(+) TCCGGA/TGAAAG 9 -- ds5001 int10--------
    rs122781151,2
    C,F--6330470(+) CTGTCG/CCCCCA 9 -- ds5001 int13Minor allele frequency- C:0.05NA CSA WA 121
    rs1433575141,2
    --6330651(+) CACAGG/TCTAAT 9 -- ds5001 int10--------
    rs1483567731,2
    C--6330997(+) CATATC/TTGGGA 9 -- ut31 int10--------
    rs1995425191,2
    --6331058(+) TAGTTC/TCCTGG 9 -- ut31 int10--------
    rs10429831,2
    C--6331076(-) ACCTGC/ATTGTG 9 -- ut31 int1 ese32Minor allele frequency- A:0.00NA 4

    HapMap Linkage Disequilibrium report for APBB1 (6416355 - 6440644 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for APBB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667097CNV Deletion23128226

    Human Gene Mutation Database (HGMD): APBB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APBB1
    DNA2.0 Custom Variant and Variant Library Synthesis for APBB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602709    OMIM disorders: --

    16 diseases for APBB1:    
    About MalaCards
    alzheimer's disease    inclusion body myositis    traumatic brain injury    nicotine dependence
    myositis    brain injury    amyloidosis    bloom syndrome
    dementia    down syndrome    obesity    ataxia
    thyroiditis    cervicitis    neuronitis    cerebritis

    1 disease from the University of Copenhagen DISEASES database for APBB1:
    Alzheimer's disease

    APBB1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for APBB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 72.7 16 11337355 (2), 20091743 (2), 11065130 (2), 8894693 (1) (see all 10)
    senile plaques 48.7 1 10075692 (1)
    neurofibrillary tangles 42.5 2 11337355 (1), 15821343 (1)
    amyloidosis 24.5 3 20091743 (2), 9585438 (1)
    neuropathology 17 1 8894693 (1)
    neurodegenerative diseases 7.54 1 10723070 (1)
    dementia 7.33 1 11854179 (1)

    Genetic Association Database (GAD): APBB1
    Human Genome Epidemiology (HuGE) Navigator: APBB1 (11 documents)

    Export disorders for APBB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APBB1 gene, integrated from 10 sources (see all 148):
    (articles sorted by number of sources associating them with APBB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type. (PubMed id 9799084)1, 2, 4, 9 Hu Q.... Deeb S.S. (Hum. Genet. 1998)
    2. cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta- amyloid precursor protein and its homologues with the mouse Fe65 protein. (PubMed id 8894693)1, 2, 3, 9 Bressler S.L....Martin G.M. (Hum. Mol. Genet. 1996)
    3. Regulation of FE65 nuclear translocation and function by amyloid beta-protein precursor in osmotically stressed cells. (PubMed id 18468999)1, 2, 9 Nakaya T.... Suzuki T. (J. Biol. Chem. 2008)
    4. No association between an intronic biallelic polymorphism of the FE65 gene and Alzheimer's disease. (PubMed id 11029529)1, 4, 9 Papassotiropoulos A....Heun R. (Int. J. Mol. Med. 2000)
    5. Evidence against association of the FE65 gene (APBB1) intron 13 polymorphism in Alzheimer's patients. (PubMed id 11099823)1, 4, 9 GuAcnette S.Y....Blacker D. (Neurosci. Lett. 2000)
    6. Dexras1 interacts with FE65 to regulate FE65-amyloid precursor protein-dependent transcription. (PubMed id 18922798)1, 2, 9 Lau K.-F.... Miller C.C.J. (J. Biol. Chem. 2008)
    7. Human NIMA-related kinase 6 is one of the Fe65 WW domain binding proteins. (PubMed id 17512906)1, 2, 9 Lee E.J.... Kang S.S. (Biochem. Biophys. Res. Commun. 2007)
    8. A FE65 polymorphism associated with risk of developing sporadic late-onset alzheimer's disease but not with Abeta loading in brains. (PubMed id 11065130)1, 4, 9 Lambert J.C....Chartier-Harlin M.C. (Neurosci. Lett. 2000)
    9. A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism. (PubMed id 12727304)1, 4, 9 Cousin E....Deleuze J.F. (Neurosci. Lett. 2003)
    10. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PubMed id 11436125)1, 4, 9 Prince J.A....Brookes A.J. (Eur. J. Hum. Genet. 2001)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 322 HGNC: 581 AceView: APBB1 Ensembl:ENSG00000166313 euGenes: HUgn322
    ECgene: APBB1 Kegg: 322 H-InvDB: APBB1

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for APBB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APBB1 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for APBB1 gene:
    Search GeneIP for patents involving APBB1

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



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