Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol APBB3 contributors: mct - updated : 31-10-2012
HGNC name amyloid beta (A4) precursor protein-binding, family B, member 3
HGNC id 20708
Location 5q31.3      Physical location : 139.937.852 - 139.944.189
Synonym name
  • amyloid beta (A4) precursor protein binding
  • Fe65-like protein 2
    • Synonym symbol(s) FE65L2, MGC87674, MGC150555, SRA
    DNA
    TYPE functioning gene
    STRUCTURE 6.34 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 2140 - 484 - 2002 12153398
  • lacking tandem 6nt and 21nt mini exons in the coding region
  • same reading frame as the longest form
    • 13 splicing 2146 52.6 486 - 2002 12153398
  • lacking tow aminoacids in the first PID/PTB element
  • lacking a 21nt mini exon in the coding region
  • same reading frame as the longest form
    • 12 splicing 2161 - 491 - 2002 12153398
  • lacking a 6nt mini exon in the coding region
  • same reading frame as the longest form
    • 13 splicing 2167 - 493 - 2002 12153398
    the longest form
    - splicing 2020 23.6 214 - 2002 12153398
  • having a 197nt alternate exon instead of a 41nt coding exon found in the longest form
  • only in the nucleus
  • lacking phosphotyrosine-interaction domains
    • - splicing 1607 26.5 245 - 2002 12153398
  • having a 146nt alternate exon in the coding region as compared to the longest form
  • only in the nucleus
  • lacking phosphotyrosine-interaction domains
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N terminal atypical SRC3 (WW, phosphoserine or phosphothreonine binding)
  • two phophotyrosine domains (PID) interacting with the YENPTY motif of APP
    • HOMOLOGY
    interspecies homolog to murine B3fe65 like gene
    Homologene
    FAMILY Fe65 protein family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • APBB1, APBB2, APBB3 contribute to physiological APP processing and accumulation of APP metabolic products resulting from NMDAR activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind the C-terminal region of the amyloid precursor protein (APP)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to early-onset Alzheimer disease
    Variant & Polymorphism other c954C-->T polymorphism is associated with early-onset Alzheimer disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS