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APBA1 Gene

protein-coding   GIFtS: 58

GC09M041881
amyloid beta (A4) precursor protein-binding, family A, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MINT1)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
amyloid beta (A4) precursor protein-binding, family A, member 11 2     adaptor protein X11alpha2
X111 2 3 5     mint-12
D9S411E1 2 5     amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)2
MINT12 3 5     amyloid beta A4 precursor protein-binding family A member 12
Neuron-specific X11 protein2 3     X11A2
Neuronal Munc18-1-interacting protein 12 3     phosphotyrosine-binding/-interacting domain (PTB)-bearing protein2
Adapter protein X11alpha2 3     X11ALPHA2
LIN102 5     Mint-13

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

Export aliases for APBA1 gene to outside databases

Previous GC identifers: GC09M063089 GC09M063901 GC09M065615 GC09M067502 GC09M069274 GC09M071235 GC09M072042


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

Entrez Gene 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 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APBA1 gene promoter:
         AP-1   p53   c-Jun   c-Fos   ISGF-3   Sox9   GATA-1   SRY   CUTL1   NRSF form 2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for APBA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M041881:  view genomic region     (about GC identifiers)

Start:
41,881,637 bp from pter
End:
42,126,250 bp from pter
Size:
244,614 bases
Orientation:
minus strand

2 alternative locations:
Chr9-,PATCHES 72,050,667-72,099,278      Chr9- 72,045,204-72,287,222     
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001154.2  

    ENSEMBL proteins: 
    ENSP00000265381 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for APBA1 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    GO:0008021 synaptic vesicle TAS9753324
    About this table

    APBA1 for ontologies           About GeneDecksing



    Antibodies for APBA1: 
    Millipore Mono- and Polyclonal Antibodies for the study of APBA1
    Sigma-Aldrich Antibodies for APBA1
    Browse R&D Systems for Antibodies
    OriGene Antibodies: APBA1
    GenScript Superior Antibodies for APBA1 
    Novus Biologicals Antibodies for APBA1
    Browse antibodies at Epitomics

    Assays for APBA1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APBA1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for APBA1 


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

    APBA1 for domains           About GeneDecksing

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

    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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for APBA1
    Sigma-Aldrich shRNA Panels and shRNA for APBA1
    OriGene 29mer shRNA kits in GFP-retroviral vector: APBA1
    OriGene shRNA RFP: APBA1
    OriGene basic RS shRNA: APBA1
    OriGene siRNA: APBA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of APBA1 
    miRNA:Sigma-Aldrich microRNA Mimics for APBA1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of APBA1 
    2 SABiosciences Assays for microRNAs that regulate APBA1:
    hsa-miR-1236 hsa-miR-24

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: APBA1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: APBA1
    OriGene untagged cDNA clones in CMV expression vector: APBA1
    OriGene 3'-UTR clone: APBA1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for APBA1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for APBA1 

    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI8887653
    GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA--
    GO:0030165 PDZ domain binding IEA--
    About this table

    APBA1 for ontologies           About GeneDecksing

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

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

    APBA1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    APBA1 for pathways           About GeneDecksing

    1 Millipore Pathway for APBA1
        Cytoplasmic microtubules

        SABiosciences Pathway-Focused PCR Array including APBA1: PAHS-057A 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APBA1

    5/7 Interacting proteins for APBA1 (Q024101, 2 ENSP000002653813) via UniProtKB, MINT, and/or STRING (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, ENSP000002849813EBI-368690,EBI-77613 STRING: ENSP00000284981
    CACNA1BQ009752, ENSP000002775493MINT-1889775 STRING: ENSP00000277549
    PSEN1P497682, ENSP000003263663MINT-1889752 STRING: ENSP00000326366
    APBA1Q024102MINT-1889840 MINT-1889794
    CASKENSP000003674053STRING: ENSP00000367405
    About this table

    5/12 Gene Ontology (GO) biological process terms (GO ID 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
    GO:0006886 intracellular protein transport IEA--
    GO:0007155 cell adhesion TAS9753324
    GO:0007268 synaptic transmission IEA--
    About this table

    APBA1 for ontologies           About GeneDecksing



    (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

    APBA1 for compounds           About GeneDecksing

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

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



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for APBA1
    Sigma-Aldrich shRNA Panels and shRNA for APBA1
    OriGene 29mer shRNA kits in GFP-retroviral vector: APBA1
    OriGene shRNA RFP: APBA1
    OriGene basic RS shRNA: APBA1
    OriGene siRNA: APBA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of APBA1 
    miRNA: Sigma-Aldrich microRNA Mimics for APBA1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of APBA1 
    2 SABiosciences Assays for microRNAs that regulate APBA1:
    hsa-miR-1236 hsa-miR-24
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: APBA1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: APBA1
    OriGene untagged cDNA clones in CMV expression vector: APBA1
    OriGene 3'-UTR Clone: APBA1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for APBA1 
    Primers: OriGene genome-wide validated SYBR primer pairs: APBA1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for APBA1: PPH07277A

    REFSEQ mRNAs for APBA1 gene: 

    NM_001163.3  

    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):

    AI289020 AI075072 BX507808 BQ269294 BF435835 NM_001163 BQ285938 BF056458 
    AI989967 AF047347 AA860795 BM510765 T28886 AF029106 BV204962 BM689397 
    L04953 BM857518 BE645317 BE463483 BM857742 BM511013 AW235364 AA729989 

    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

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470082 ENST00000265381(uc004ahh.2)

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    APBA1 expression in normal and diseased human tissues

    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 0.44 1.00 0.89 1.48 -- -- -- -- --
    206679_at2, 3 U133-A 1 0.91 1.00 -- -- NM_001163 0.60 1.00 0.82 1
    228101_at2 U133-B 1 0.36 1.00 -- -- -- -- -- -- --
    206679_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    228101_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    APBA1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    APBA1 gene expression
    APBA1 gene electronic northern expression
    APBA1 gene sage expression
    About these images

    CGAP SAGE TAG: TGTCTCCTTC

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: APBA1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for APBA1: PPH07277A
        SABiosciences Expression via Pathway-Focused PCR Array including APBA1: PAHS-057A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, 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 19 (18.45 cM)5
    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 14)
    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 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for APBA1 gene
    APBA22  APBA32  

    APBA1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/2081 NCBI SNPs in APBA1 are shown (see all 2081)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7160701,2
    --72060296(-) CTCAGA/GAATCC 1 -- int13Minor allele frequency- G:0.00NA EA 238
    rs7160711,2
    H72060306(-) AAAATG/TGCAGC 1 -- int15Minor allele frequency- T:0.00NA NS EA 504
    rs8691501,2
    C,F,72181615(-) aggctC/Gtgagg 1 -- int111Minor allele frequency- G:0.17NS EA NA WA 818
    rs8703301,2
    C,F,A,72136461(-) tctgaC/Tccccg 1 -- int13Minor allele frequency- T:0.18NA EA WA 210
    rs8703311,2
    C,72136457(-) accccC/Tgaccc 1 -- int11Minor allele frequency- T:0.02WA 50
    rs8706931,2
    C,F,O,A,72081288(+) ACTAAC/TGTAAG 1 -- int121Minor allele frequency- T:0.14NA EA NS WA 1722
    rs8706941,2
    C,F,O,A,72081462(+) GACACT/CGTCCT 1 -- int113Minor allele frequency- C:0.16NA NS EA WA 932
    rs8706951,2
    C,F,A,H,72081232(+) TTACGG/CTGTTG 1 -- int117Minor allele frequency- C:0.34NS EA NA WA 1070
    rs8725191,2
    C,A72046878(-) AGTCAA/TCACTG 1 -- int10--------
    rs8725201,2
    --72046950(-) TGTCAG/TTCATC 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for APBA1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 26 variations for APBA1
         15/26 CNVs (see all 26): 52848 30331 29801 96102 70721 83052 37778 1827 52850 36962 59536 83053 52847 53726 2822

    QIAGEN SeqTarget long-range PCR primers for resequencing APBA1 

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

    APBA1 for disorders           About GeneDecksing

    OMIM: 602414

    2 Novoseek disease relationships for APBA1 gene

    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)
    About this table

    Human Genome Epidemiology (HuGE) Navigator: APBA1 (2 documents)

    Export disorders and mutations for APBA1 gene to outside databases

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

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

    10/54 PubMed articles for APBA1 gene, integrated from 7 sources (see all 54):
    (articles sorted by number of sources associating them with APBA1)
    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. (1993)
    2. The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion. (PubMed id 9614075)1, 2, 7 Borg J.-P.... Turner R.S. (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, 7 Borg J.-P.... Margolis B. (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, 7 Zhang Z.... Kuriyan J. (1997)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    6. Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)1, 2 Okamoto M. and Suedhof T.C. (1997)
    7. Comparison of primary structure of a neuron-specific protein, X11, between human and mouse. (PubMed id 7719031)1, 3 Duclos F. and Koenig M. (1995)
    8. Modulation of amyloid precursor protein metabolism by X11alpha /Mint-1. A deletion analysis of protein-protein interaction domains. (PubMed id 11010978)1, 7 Mueller H.T....Turner R.S. (2000)
    9. X11alpha impairs gamma- but not beta-cleavage of amyloid precursor protein. (PubMed id 14756819)1, 7 King G.D....Turner R.S. (2004)
    10. RNA interference-mediated silencing of X11alpha and X11beta attenuates amyloid beta-protein levels via differential effects on beta-amyloid precursor protein processing. (PubMed id 15699037)1, 7 Xie Z....Tanzi R.E. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, 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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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     Millipore Custom Antibody & Bulk Services
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     ELISAs and CLIAs for APBA1
           

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