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APBA1 Gene

protein-coding   GIFtS: 56

GC09M071235
amyloid beta (A4) precursor protein-binding, family A, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MINT1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
D9S411E 1, 2
MINT1 2, 3
Mint-1 3
OTTHUMP00000021438 2
X11 1, 2, 3, 5
X11A 2
X11ALPHA 2
Descriptions
Adapter protein X11alpha 3
Neuron-specific X11 protein 2, 3
Neuronal Munc18-1-interacting protein 1 2, 3
adaptor protein X11alpha 2
amyloid beta (A4) precursor protein-binding, family A,
member 1 2
amyloid beta (A4) precursor protein-binding, family A,
member 1 (X11) 2
amyloid beta A4 precursor protein-binding, family A, member
1 2
amyloid beta precursor protein-binding, family A, member 1 1
phosphotyrosine-binding/-interacting domain (PTB)-bearing
protein 2
External Ids
HGNC: 5781
Entrez Gene: 3202
UniProtKB: Q024103
Ensembl: ENSG000001072827
Search outside databases for aliases for APBA1 gene

Previous GC identifers: GC09M063089 GC09M063901 GC09M065615 GC09M067502 GC09M069274

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

EntrezGene summary for APBA1:
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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the APBA1 gene  

Entrez Gene cytogenetic band: 9q13-q21.1   Ensembl cytogenetic band:  9q21.11   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)

GeneLoc gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M071235:     (about GC identifiers)

Start:
71,235,022 bp from pter
End:
71,477,042 bp from pter
Size:
242,021 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000009.10  NT_023935.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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. Binds to the
cytoplasmic domain of amyloid protein (APP)
PDB structures from and Proteopedia :
1AQC (3D)    1U37 (3D)    1U38 (3D)    1U39 (3D)    1U3B (3D)    1X11 (3D)    1X45 (3D)    1Y7N (3D)    
Secondary accessions: O14914 O60570 Q5VYR8

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001154.2  

    ENSEMBL proteins: 
    ENSP00000265381 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (APBA1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008021 synaptic vesicle TAS9753324
    About this table

    Antibodies for APBA1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of APBA1
    Sigma-Aldrich Antibodies for APBA1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (APBA1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (APBA1)
    Search Novus for antibodies for APBA1

    Assays for APBA1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    3 InterPro domains/families:
     IPR001478 PDZ/DHR/GLGF
     IPR006020 PTB_PID
     IPR011993 PH_type


       GeneDecks  APBA1 for the domains selected above  
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    Graphical View of Domain Structure for InterPro Entry Q02410

    ProtoNet protein and cluster: Q02410

    2 Blocks protein families:
    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
    Similarity: Contains 2 PDZ (DHR) domains
    Similarity: Contains 1 PID domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (APBA1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001163

                  Applied Biosystems Silencer® siRNAs for APBA1

                  Sigma-Aldrich siRNA for APBA1  
                         Sigma-Aldrich shRNA Panels and shRNA for APBA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001163
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001163
                                     untagged cDNA clone in CMV expression vector: NM_001163 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001163

    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

    5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Apba1):

    behavior/neurologicalgrowth/sizelethality-prenatal/perinatalnervous systemno phenotypic analysis

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI8887653
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for APBA1
     Cytoplasmic microtubules

       GeneDecks  APBA1 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  APBA1 


    5/29 Interacting proteins for APBA1 (Q024101, 2 ENSP000002653813) via UniProtKB, MINT, and/or STRING (see all 29 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, ENSP000002849813EBI-368690, EBI-77613 STRING (score=.999)
    PSEN1P497682, ENSP000003263663MINT-1889752 STRING (score=.984)
    CACNA1BQ009752, ENSP000002775493MINT-1889775 STRING (score=.901)
    APBA1Q024102MINT-1889840 MINT-1889794
    KIF17ENSP000003181333STRING (score=.98)
    About this table

    5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701 in utero embryonic development IEA--
    GO:0006461 protein complex assembly TAS9614075 9753324
    GO:0006886 intracellular protein transport TAS9614075
    GO:0007155 cell adhesion TAS9753324
    GO:0007268 synaptic transmission TAS9753324
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for APBA1
    1 Novoseek chemical compound relationship for APBA1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 66.48 6 9822620 (2), 18575606 (1), 8887653 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (APBA1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001163

                  Sigma-Aldrich siRNA for APBA1  
                         Sigma-Aldrich shRNA Panels and shRNA for APBA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001163  

    REFSEQ mRNAs for APBA1 gene: 

    NM_001163.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001163  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001163
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001163
                                     untagged cDNA clone in CMV expression vector: NM_001163 

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/29 AceView cDNA sequences (see all 29 ):

    AI075072 NM_001163 BX507808 BF435835 BQ285938 AI289020 BQ269294 BV204962 
    BF056458 AF029106 AI989967 BM689397 AF047347 T28886 BE645317 BM510765 
    BM857518 L04953 AA860795 BE463483 BM857742 BM511013 T03550 AW235364 

    highest scoring ESTs for APBA1:

    AF047347 AF029106 BQ269294 AA670216 AA860795 AI075072 AI289020 AI989967 AW235364 BE463483 

    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


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000265381  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    APBA1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for APBA1

    1 / 2 / 3

    6 probe-sets matching APBA1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    36698_at2, 3 U95-A 1 1.00 1.00 0.42 0.57 AF047347 1.00 1.00 1.00 1
    58428_at2 U95-B 1 1.00 1.00 0.89 1.48 -- -- -- -- --

    228101_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

    206679_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001163 0.60 1.00 0.82 1

    228101_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    206679_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  APBA1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.171939

    Expression variation in blood from EXPOLDB for APBA1

    UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410
    Tissue specificity: Brain and spinal cord

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for APBA1 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    APBA11   -- amyloid beta (A4) precursor protein-binding, family more 99.6(n)
    99.88(a)
    472947  XM_528317.2  XP_528317.2 
    cow
    (Bos taurus)
    APBA11   -- amyloid beta (A4) precursor protein-binding, family more 91.97(n)
    97.11(a)
    515571  XM_593610.3  XP_593610.3 
    rat
    (Rattus norvegicus)
    Apba11   -- amyloid beta (A4) precursor protein-binding, family more 90.72(n)
    94.94(a)
    83589  NM_031779.1  NP_113967.1 
    mouse
    (Mus musculus)
    Apba11, 5 195
    amyloid beta (A4) precursor protein binding, family more1, 5 89.57(n)1
    93.67(a)1
    3199241  NM_177034.31  NP_796008.21 
     AI8386025  AJ5580215  (see all 13)
    chicken
    (Gallus gallus)
    APBA11   -- amyloid beta (A4) precursor protein-binding, family more 77.53(n)
    88.32(a)
    427246  XM_424829.2  XP_424829.2 
    About this table        Species with no ortholog for APBA1

    ENSEMBL Gene Tree for APBA1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for APBA1 gene
    APBA22  APBA32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1243 NCBI SNPs in APBA1 are shown (see all 1243 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 449)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs17612921,2
    A,C,F,H,O71234058(-) AGGAAG/AGAACC 1 -- ut317Minor allele frequency- A:0.37EU EA WA NA 558
    rs123475671,2
    A,C,F,H71235040(+) TGTTCG/AGCAGG 1 -- ut31 ese34Minor allele frequency- A:0.05EU EA WA 416
    rs17612931,2
    A,C,F,H71233100(-) CCAGCG/AACACC 1 -- ut315Minor allele frequency- A:0.25MN EA WA 1952
    --
    rs11053071,2
    C,F,H71235860(+) CATACG/AAAACT 1 -- ut31 ese313Minor allele frequency- A:0.39NS EU EA WA MN NA 838
    rs123513461,2
    C,F,H71235699(+) TGCCCC/TGCGAG 1 -- ut31 ese37Minor allele frequency- T:0.07EU EA WA NA 552
    rs17612831,2
    A,H71232590(-) GTGTCG/AGGAGA 1 -- ut315Minor allele frequency- A:0.00MN EU EA WA 602
    rs132925541,2
    H71235536(+) AGATTC/TTGGGA 1 -- ut314Minor allele frequency- T:0.00EU EA WA 418
    rs111385961,2
    H71233107(+) CTGGAG/TAAGTG 1 -- ut314Minor allele frequency- T:0.00EU EA WA 420
    rs347883681,2
    F71321397(+) CTCGGA/CGTAGG 1 S/A mis11Minor allele frequency- C:0.11NA 64
    rs78510021,2
    H71235385(+) CCCATG/TAATTG 1 -- ut314Minor allele frequency- T:0.00EU EA WA 420
    About this table

    HapMap Linkage Disequilibrium images for APBA1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602414

    2 Novoseek disease relationships for APBA1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 62.78 3 16545469 (1), 9614075 (1), 11115513 (1)
    brain diseases 43.44 1 9614075 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/47 PubMed articles for APBA1 gene (see all 47 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 320 HGNC: 578 AceView: APBA1 Ensembl:ENSG00000107282 euGenes: HUgn320
    ECgene: APBA1 H-InvDB: APBA1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for APBA1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for APBA1 Antibodies for APBA1
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