APBA1
From Wikipedia, the free encyclopedia
Amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)
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PDB rendering based on 1aqc. | ||||||||||||||
Available structures: 1aqc, 1u37, 1u38, 1u39, 1u3b, 1x11, 1x45, 1y7n | ||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | APBA1; D9S411E; MINT1; X11; X11A; X11ALPHA | |||||||||||||
External IDs | OMIM: 602414 MGI: 1860297 HomoloGene: 897 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 320 | 319924 | ||||||||||||
Ensembl | ENSG00000107282 | ENSMUSG00000024897 | ||||||||||||
Uniprot | Q02410 | n/a | ||||||||||||
Refseq | NM_001163 (mRNA) NP_001154 (protein) |
NM_177034 (mRNA) NP_796008 (protein) |
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Location | Chr 9: 71.24 - 71.48 Mb | Chr 19: 23.83 - 24.02 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Amyloid beta (A4) precursor protein-binding, family A, member 1 (X11), also known as APBA1, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- van der Geer P, Pawson T (1995). "The PTB domain: a new protein module implicated in signal transduction.". Trends Biochem. Sci. 20 (7): 277–80. PMID 7545337.
- Chen WJ, Goldstein JL, Brown MS (1990). "NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor.". J. Biol. Chem. 265 (6): 3116–23. PMID 1968060.
- Duclos F, Boschert U, Sirugo G, et al. (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. PMID 7678331.
- Duclos F, Koenig M (1995). "Comparison of primary structure of a neuron-specific protein, X11, between human and mouse.". Mamm. Genome 6 (1): 57–8. PMID 7719031.
- Borg JP, Ooi J, Levy E, Margolis B (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. PMID 8887653.
- Zhang Z, Lee CH, Mandiyan V, et al. (1997). "Sequence-specific recognition of the internalization motif of the Alzheimer's amyloid precursor protein by the X11 PTB domain.". EMBO J. 16 (20): 6141–50. doi: . PMID 9321393.
- Okamoto M, Südhof TC (1998). "Mints, Munc18-interacting proteins in synaptic vesicle exocytosis.". J. Biol. Chem. 272 (50): 31459–64. PMID 9395480.
- Blanco G, Irving NG, Brown SD, et al. (1998). "Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor protein.". Mamm. Genome 9 (6): 473–5. PMID 9585438.
- Borg JP, Yang Y, De Taddéo-Borg M, et al. (1998). "The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion.". J. Biol. Chem. 273 (24): 14761–6. PMID 9614075.
- Butz S, Okamoto M, Südhof TC (1998). "A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain.". Cell 94 (6): 773–82. PMID 9753324.
- Borg JP, Straight SW, Kaech SM, et al. (1998). "Identification of an evolutionarily conserved heterotrimeric protein complex involved in protein targeting.". J. Biol. Chem. 273 (48): 31633–6. PMID 9822620.
- Borg JP, Lõpez-Figueroa MO, de Taddèo-Borg M, et al. (1999). "Molecular analysis of the X11-mLin-2/CASK complex in brain.". J. Neurosci. 19 (4): 1307–16. PMID 9952408.
- Maximov A, Südhof TC, Bezprozvanny I (1999). "Association of neuronal calcium channels with modular adaptor proteins.". J. Biol. Chem. 274 (35): 24453–6. PMID 10455105.
- Mueller HT, Borg JP, Margolis B, Turner RS (2001). "Modulation of amyloid precursor protein metabolism by X11alpha /Mint-1. A deletion analysis of protein-protein interaction domains.". J. Biol. Chem. 275 (50): 39302–6. doi: . PMID 11010978.
- Biederer T, Südhof TC (2001). "Mints as adaptors. Direct binding to neurexins and recruitment of munc18.". J. Biol. Chem. 275 (51): 39803–6. doi: . PMID 11036064.
- Lau KF, McLoughlin DM, Standen C, Miller CC (2001). "X11 alpha and x11 beta interact with presenilin-1 via their PDZ domains.". Mol. Cell. Neurosci. 16 (5): 557–65. doi: . PMID 11083918.
- McLoughlin DM, Standen CL, Lau KF, et al. (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: . PMID 11115513.
- Bécamel C, Alonso G, Galéotti N, et al. (2002). "Synaptic multiprotein complexes associated with 5-HT(2C) receptors: a proteomic approach.". EMBO J. 21 (10): 2332–42. doi: . PMID 12006486.
- Ho CS, Marinescu V, Steinhilb ML, et al. (2002). "Synergistic effects of Munc18a and X11 proteins on amyloid precursor protein metabolism.". J. Biol. Chem. 277 (30): 27021–8. doi: . PMID 12016213.