APBA1

(amyloid beta (A4) precursor protein-binding, family A, member 1 (X11))

 

  • Alias                                 (According to NCBI)

 
  • D9S411E,
  • MINT1,
  • X11,
  • X11A,
  • X11ALPHA
  • adaptor protein X11alpha;
  • amyloid beta A4 precursor protein-binding, family A, member 1;
  • neuron-specific X11 protein;
  • neuronal munc18-1-interacting protein 1;
  • phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
  • 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.
  • Location: 9q13-q21.1
  • Size:242021 bp
  • exons: 9
  • DNA sequence (Human): NC_000009.10

  • CGH (9q13-21):  Losses (%) -6.1   Gain (%)  6.7
  • Mutations and SNPs (According to HGMD and SNP)

 
  • HGMD :
  • SNPs: 320

 
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):  NM_001163.2

  • Size: 3778 bp

  • cDNA libraries:

  • Size: 837 amino acids: 92865 Da
  • Protein domains

     

  • Pathways and interactions (According to Kegg, IntAct)

 

  • Pathway:

     hsa01510  Neurodegenerative Diseases

                        

  • Protein interactions: APBA1
  • Clinical                            (According to OMIM, PubMed)