APBA1

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Amyloid beta (A4) precursor protein-binding, family A, member 1
Protein APBA1 PDB 1aqc.png
PDB rendering based on 1aqc.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols APBA1 ; D9S411E; LIN10; MINT1; X11; X11A; X11ALPHA
External IDs OMIM602414 MGI1860297 HomoloGene897 GeneCards: APBA1 Gene
RNA expression pattern
PBB GE APBA1 206679 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 320 319924
Ensembl ENSG00000107282 ENSMUSG00000024897
UniProt Q02410 B2RUJ5
RefSeq (mRNA) NM_001163 NM_177034
RefSeq (protein) NP_001154 NP_796008
Location (UCSC) Chr 9:
72.04 – 72.29 Mb
Chr 19:
23.76 – 23.95 Mb
PubMed search [1] [2]

Amyloid beta A4 precursor protein-binding family A member 1 is a protein that in humans is encoded by the APBA1 gene.[1][2][3]

Function[edit]

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilises 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.[3]

Interactions[edit]

APBA1 has been shown to interact with KCNJ12,[4][5] CCS,[6] CASK[7][8] and Amyloid precursor protein.[9][10]

References[edit]

  1. ^ Duclos F, Boschert U, Sirugo G, Mandel JL, Hen R, Koenig M (February 1993). "Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system". Proc Natl Acad Sci U S A 90 (1): 109–13. doi:10.1073/pnas.90.1.109. PMC 45609. PMID 7678331. 
  2. ^ Duclos F, Koenig M (May 1995). "Comparison of primary structure of a neuron-specific protein, X11, between human and mouse". Mamm Genome 6 (1): 57–8. doi:10.1007/BF00350899. PMID 7719031. 
  3. ^ a b "Entrez Gene: APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)". 
  4. ^ Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME et al. (May 2004). "Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins". J. Biol. Chem. 279 (21): 22331–46. doi:10.1074/jbc.M400285200. PMID 15024025. 
  5. ^ Leonoudakis D, Conti LR, Radeke CM, McGuire LM, Vandenberg CA (April 2004). "A multiprotein trafficking complex composed of SAP97, CASK, Veli, and Mint1 is associated with inward rectifier Kir2 potassium channels". J. Biol. Chem. 279 (18): 19051–63. doi:10.1074/jbc.M400284200. PMID 14960569. 
  6. ^ McLoughlin DM, Standen CL, Lau KF, Ackerley S, Bartnikas TP, Gitlin JD et al. (March 2001). "The neuronal adaptor protein X11alpha interacts with the copper chaperone for SOD1 and regulates SOD1 activity". J. Biol. Chem. 276 (12): 9303–7. doi:10.1074/jbc.M010023200. PMID 11115513. 
  7. ^ Borg JP, Straight SW, Kaech SM, de Taddéo-Borg M, Kroon DE, Karnak D et al. (November 1998). "Identification of an evolutionarily conserved heterotrimeric protein complex involved in protein targeting". J. Biol. Chem. 273 (48): 31633–6. doi:10.1074/jbc.273.48.31633. PMID 9822620. 
  8. ^ Borg JP, Lõpez-Figueroa MO, de Taddèo-Borg M, Kroon DE, Turner RS, Watson SJ et al. (February 1999). "Molecular analysis of the X11-mLin-2/CASK complex in brain". J. Neurosci. 19 (4): 1307–16. PMID 9952408. 
  9. ^ Biederer T, Cao X, Südhof TC, Liu X (September 2002). "Regulation of APP-dependent transcription complexes by Mint/X11s: differential functions of Mint isoforms". J. Neurosci. 22 (17): 7340–51. PMID 12196555. 
  10. ^ Borg JP, Ooi J, Levy E, Margolis B (November 1996). "The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein". Mol. Cell. Biol. 16 (11): 6229–41. PMC 231626. PMID 8887653. 

Further reading[edit]