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APBA1 Gene

protein-coding   GIFtS: 57
GCID: GC09M072042

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


(Previous symbol: MINT1)
Alzheimer's & Parkinson's Diseases Congress
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(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 A, Member 11 2     X11A2
MINT11 2 3 5     X11ALPHA2
X112 3 5     Adaptor Protein X11alpha2
Adapter Protein X11alpha2 3     Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 1 (X11)2
Neuron-Specific X11 Protein2 3     Amyloid Beta A4 Precursor Protein-Binding Family A Member 12
Neuronal Munc18-1-Interacting Protein 12 3     mint-12
D9S411E2 5     Phosphotyrosine-Binding/-Interacting Domain (PTB)-Bearing Protein2
LIN102 5     Mint-13

External Ids:    HGNC: 5781   Entrez Gene: 3202   Ensembl: ENSG000001072827   OMIM: 6024145   UniProtKB: Q024103   

Export aliases for APBA1 gene to outside databases

Previous GC identifers: GC09M063089 GC09M063901 GC09M065615 GC09M067502 GC09M069274 GC09M071235 GC09M041881


(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 APBA1 Gene:
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that
interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production
of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease
patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a
putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic
vesicle exocytosis to neuronal cell adhesion. (provided by RefSeq, Jul 2008)

GeneCards Summary for APBA1 Gene:
APBA1 (amyloid beta (A4) precursor protein-binding, family A, member 1) is a protein-coding gene. Diseases associated with APBA1 include neuronitis, and neuronal intranuclear inclusion disease. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and protein complex binding. An important paralog of this gene is APBA2.

UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410
Function: Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the
synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and
hence formation of beta-APP

Gene Wiki entry for APBA1 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_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APBA1 gene promoter:
         E2F-4   E2F-3a   E2F-5   AP-1   ATF-2   MyoD   E2F-2   E2F-1   E2F   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPBA1 promoter sequence
   Search Chromatin IP Primers for APBA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APBA1


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

Entrez Gene cytogenetic band: 9q13-q21.1   Ensembl cytogenetic band:  9q21.12   HGNC cytogenetic band: 9q13-q21

APBA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APBA1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M072042:  view genomic region     (about GC identifiers)

Start:
72,042,446 bp from pter      End:
72,287,275 bp from pter
Size:
244,830 bases      Orientation:
minus strand

1 alternative location:
Chr9-,NW_003315929 21,986-70,597     

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410 (See protein sequence)
Recommended Name: Amyloid beta A4 precursor protein-binding family A member 1  
Size: 837 amino acids; 92865 Da
Subunit: Part of a multimeric complex containing Munc18-1 and syntaxin-1. Also part of the brain-specific
heterotrimeric complex LIN-10/X11-alpha, LIN-2/CASK, and LIN7. Both isoform 1 and isoform 2 bind to the
cytoplasmic domain of amyloid protein (APP). Interacts (via PDZ 1 and 2 domains) with FSPB. Isoform 2, but not
isoform 1, interacts (via its truncated PID domain) with active, GTP-bound RAB6A and RAB6B
Selected PDB 3D structures from and Proteopedia for APBA1 (see all 8):
1AQC (3D)        1U37 (3D)        1U38 (3D)        1U39 (3D)        1U3B (3D)        1X11 (3D)    
Secondary accessions: O14914 O60570 Q5VYR8
Alternative splicing: 2 isoforms:  Q02410-1   Q02410-2   (This isoform interacts with RAB6 GTPases)

Explore the universe of human proteins at neXtProt for APBA1: NX_Q02410

Explore proteomics data for APBA1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See APBA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001154.2  
    ENSEMBL proteins: 
     ENSP00000265381  

    APBA1 Human Recombinant Protein Products:

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    APBA1 Assay Products:

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    Cloud-Clone Corp. ELISAs for APBA1
    Cloud-Clone Corp. CLIAs for APBA1


    (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
     IPR001478 PDZ
     IPR006020 PTB/PI_dom

    Graphical View of Domain Structure for InterPro Entry Q02410

    ProtoNet protein and cluster: Q02410

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB006020 Phosphotyrosine interaction domain


    UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410
    Domain: Composed of an N-terminal domain that binds Munc18-1 and LIN-2/CASK, a middle phosphotyrosine-binding
    domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two
    C-terminal PDZ domains thought to attach proteins to the plasma membrane
    Domain: The autoinhibitory helix linker occludes the APP binding site (By similarity)
    Domain: The PID domain, truncated by 11 amino acids, as observed in isoform 2, but not full-length, mediates the
    interaction with RAB6A and RAB6B (PubMed:23737971)
    Similarity: Contains 2 PDZ (DHR) domains
    Similarity: Contains 1 PID domain


    APBA1 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: APBA1_HUMAN, Q02410
    Function: Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the
    synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and
    hence formation of beta-APP

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IEA--
    GO:0005515protein binding IPI11083918
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IEA--
    GO:0030165PDZ domain binding IEA--
    GO:0032403protein complex binding IEA--
         
    APBA1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Apba1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 
     no phenotypic analysis 

    APBA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APBA1: Apba1tm1Amor Apba1tm1.1Sud

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APBA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APBA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APBA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APBA1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate APBA1 (see all 84):
    hsa-miR-194* hsa-miR-3678-3p hsa-miR-300 hsa-miR-30d hsa-miR-3138 hsa-miR-138-2* hsa-miR-342-3p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidAPBA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APBA1
    Predesigned siRNA for gene silencing in human, mouse, rat APBA1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: APBA1 (NM_001163)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APBA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APBA1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APBA1


    (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
    APBA1_HUMAN, Q02410: Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Note=Only about 5% of the protein is
    located in the nucleus
    APBA1_HUMAN, Q02410: Isoform 2: Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane IEA--
    GO:0008021synaptic vesicle TAS9753324
    GO:0016020membrane ----

    APBA1 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 APBA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32



        Pathway & Disease-focused RT2 Profiler PCR Arrays including APBA1: 
              Lung Cancer in human mouse rat
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APBA1

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

    Selected Interacting proteins for APBA1 (Q024101, 2, 3 ENSP000002653814) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSEN1P497681, 2, 3, ENSP000003263664EBI-368690,EBI-297277 MINT-1889752 I2D: score=2 STRING: ENSP00000326366
    APPP050671, 3, ENSP000002849814EBI-368690,EBI-77613 I2D: score=5 STRING: ENSP00000284981
    CACNA1BQ009752, 3, ENSP000002775494MINT-1889775 I2D: score=3 STRING: ENSP00000277549
    NRXN1P584003, ENSP000003851424I2D: score=3 I2D: score=2 STRING: ENSP00000385142
    CASKO149363, ENSP000003674084I2D: score=5 STRING: ENSP00000367408
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006461protein complex assembly TAS9614075
    GO:0006886intracellular protein transport IEA--
    GO:0007155cell adhesion TAS9753324
    GO:0007268synaptic transmission IEA--

    APBA1 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 APBA1

    1 Novoseek inferred chemical compound relationship for APBA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 65.7 6 9822620 (2), 18575606 (1), 8887653 (1)



    APBA1 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,
    Conferences by KenesGroup, 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 APBA1 gene: 
    NM_001163.3  

    Unigene Cluster for APBA1:

    Amyloid beta (A4) precursor protein-binding, family A, member 1
    Hs.171939  [show with all ESTs]
    Unigene Representative Sequence: NM_001163
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265381(uc004ahh.2) ENST00000470082

    miRNA
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    Block miRNA regulation of human, mouse, rat APBA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APBA1 (see all 84):
    hsa-miR-194* hsa-miR-3678-3p hsa-miR-300 hsa-miR-30d hsa-miR-3138 hsa-miR-138-2* hsa-miR-342-3p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidAPBA1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat APBA1

    Additional mRNA sequence: 

    AF029106.1 AF047347.1 AL713639.1 L04953.1 

    5 DOTS entries:

    DT.97839167  DT.210563  DT.91750255  DT.91688876  DT.100737946 

    Selected AceView cDNA sequences (see all 29):

    BF435835 AI075072 AI289020 NM_001163 BQ285938 BX507808 BQ269294 T28886 
    BM857518 AA860795 AF029106 BE645317 AI989967 BF056458 BM510765 L04953 
    BV204962 AF047347 BM689397 BE463483 BM511013 BM857742 AA729989 T03550 

    GeneLoc Exon Structure


    (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)
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    APBA1 expression in normal human tissues (normalized intensities)      APBA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCTCCTTC
    APBA1 Expression
    About this image


    APBA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    APBA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APBA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.171939

    UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410
    Tissue specificity: Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung,
    liver or spleen

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APBA1: 
              Lung Cancer in human mouse rat
              Alzheimer's Disease in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APBA1

    (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 APBA1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apba11 , 5 amyloid beta (A4) precursor protein binding, family more1, 5 90.26(n)1
    94.23(a)1
      19 (18.45 cM)5
    3199241  NM_177034.31  NP_796008.21 
     237588765 
    chicken
    (Gallus gallus)
    Aves APBA11 amyloid beta (A4) precursor protein-binding, family more 77.53(n)
    88.32(a)
      427246  XM_424829.4  XP_424829.2 
    lizard
    (Anolis carolinensis)
    Reptilia APBA16
    amyloid beta (A4) precursor protein-binding, famil...
    86(a)
    1 ↔ 1
    2(49432429-49545416)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.85472 Xenopus laevis transcribed sequence with moderate similarity more 78.07(n)    BG814570.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apba1a1 amyloid beta (A4) precursor protein-binding, family more 73.72(n)
    82.77(a)
      100003938  XM_001343336.2  XP_001343372.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta X11L6
    X11Lbeta6
    X11Lbeta
    26(a)
    14(a)
    many ↔ many
    many ↔ many
    X(17493641-17500912)
    X(10521770-10604900)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-103 Phosphotyrosine interaction domain
    (PTB/PID)., more
    55(a)   I(8118196-8127374)   --


    ENSEMBL Gene Tree for APBA1 (if available)
    TreeFam Gene Tree for APBA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APBA1 gene
    APBA22  APBA32  
    2 SIMAP similar genes for APBA1 using alignment to 1 protein entry:     APBA1_HUMAN:
    APBA3    APBA2

    APBA1 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 APBA1 (see all 4471)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58980831,2
    C--41997333(+) GATTT-/CC/CCCCCC/CC
    CCCCC
    /CCCCCCCC
    CCCCC
    2 -- int1 cds11CSA 2
    rs1925481771,2
    --72041963(+) AGGGAG/TGGCAT 1 -- int10--------
    rs1406155891,2
    C--72042008(+) GCACCA/GGGAGG 1 -- int10--------
    rs1456666331,2
    C--72042063(+) AGGGCA/GCTGTT 1 -- int10--------
    rs17579571,2
    C,F,O,A,H--72042096(-) TGTAAG/TGGACT 1 -- int122Minor allele frequency- N:0.00EA NA NS WA CSA 1426
    rs17612841,2
    C,F,A,H--72042193(-) TTCTCT/CGGATT 1 -- int112Minor allele frequency- C:0.36NA WA CSA EA 374
    rs1833000271,2
    --72042246(+) GACTGA/GAGGAT 1 -- int10--------
    rs1887484701,2
    --72042274(+) CAGAGC/GCTTTC 1 -- int10--------
    rs17579561,2
    C,F,A,H--72042358(-) CTCCTA/GCCCAC 1 -- int116Minor allele frequency- G:0.45NS NA EA WA CSA 912
    rs1133033911,2
    C--72042366(+) GAGCT-/AGTC  
            
    AGTCA
    1 -- int11Minor allele frequency- AGTC:0.50CSA 2

    HapMap Linkage Disequilibrium report for APBA1 (72042446 - 72287275 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for APBA1 (see all 36):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663143CNV Deletion23128226
    esv2422080CNV Duplication20811451
    nsv6551CNV Insertion18451855
    nsv415787CNV Insertion16902084
    nsv893435CNV Loss21882294
    nsv471307CNV Loss18288195
    nsv893431CNV Loss21882294
    esv34257CNV Loss17911159
    nsv438107CNV Loss16468122
    nsv466415CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APBA1
    DNA2.0 Custom Variant and Variant Library Synthesis for APBA1

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

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    OMIM gene information: 602414    OMIM disorders: --

    14 diseases for APBA1:    About MalaCards
    neuronitis    neuronal intranuclear inclusion disease    alzheimer's disease    friedreich ataxia
    brain disease    ataxia    ulcerative colitis    tonsillitis
    colorectal cancer    lung cancer    thyroiditis    cerebritis
    prostatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for APBA1:
    Alzheimer's disease

    APBA1 for disorders           About GeneDecksing


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

    2 Novoseek inferred disease relationships for APBA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 62.7 3 16545469 (1), 9614075 (1), 11115513 (1)
    brain diseases 41.7 1 9614075 (1)

    Genetic Association Database (GAD): APBA1
    Human Genome Epidemiology (HuGE) Navigator: APBA1 (2 documents)

    Export disorders for APBA1 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

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    PubMed articles for APBA1 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with APBA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. (PubMed id 7678331)1, 2, 3 Duclos F.... Mandel J.-L. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion. (PubMed id 9614075)1, 2, 9 Borg J.-P.... Turner R.S. (J. Biol. Chem. 1998)
    3. The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein. (PubMed id 8887653)1, 2, 9 Borg J.-P.... Margolis B. (Mol. Cell. Biol. 1996)
    4. Sequence-specific recognition of the internalization motif of the Alzheimer's amyloid precursor protein by the X11 PTB domain. (PubMed id 9321393)1, 2, 9 Zhang Z.... Kuriyan J. (EMBO J. 1997)
    5. A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6. (PubMed id 23737971)1, 2 Thyrock A.... Barnekow A. (PLoS ONE 2013)
    6. An X11alpha/FSBP complex represses transcription of the GSK3beta gene promoter. (PubMed id 20531236)1, 2 Lau K.F.... Miller C.C. (NeuroReport 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Genetic pathway-based hierarchical clustering analysis of older adults with cognitive complaints and amnestic mild cognitive impairment using clinical and neuroimaging phenotypes. (PubMed id 20468060)1, 4 Sloan C.D....Saykin A.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    10. Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)1, 2 Okamoto M. and Suedhof T.C. (J. Biol. Chem. 1997)

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

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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)
    About This Section

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    Entrez Gene: 320 HGNC: 578 AceView: APBA1 Ensembl:ENSG00000107282 euGenes: HUgn320
    ECgene: APBA1 H-InvDB: APBA1

    (According to HUGE)
    About This Section

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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 APBA1 Pharmacogenomics, SNPs, Pathways

    (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 APBA1 gene:
    Search GeneIP for patents involving APBA1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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