APBA1

APBA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPBA1, D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA, amyloid beta precursor protein binding family A member 1
External IDsOMIM: 602414; MGI: 1860297; HomoloGene: 897; GeneCards: APBA1; OMA:APBA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

320

319924

Ensembl

ENSG00000107282
ENSG00000276497

ENSMUSG00000024897

UniProt

Q02410

B2RUJ5

RefSeq (mRNA)

NM_001163

NM_177034

RefSeq (protein)

NP_001154

NP_796008

Location (UCSC)Chr 9: 69.43 – 69.67 MbChr 19: 23.74 – 23.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Amyloid beta A4 precursor protein-binding family A member 1 is a protein that in humans is encoded by the APBA1 gene.[5][6][7]

Function

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.[7]

Interactions

APBA1 has been shown to interact with KCNJ12,[8][9] CCS,[10] CASK[11][12] and Amyloid precursor protein.[13][14]

References

  1. ^ a b c ENSG00000276497 GRCh38: Ensembl release 89: ENSG00000107282, ENSG00000276497 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024897 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. Bibcode:1993PNAS...90..109D. doi:10.1073/pnas.90.1.109. PMC 45609. PMID 7678331.
  6. ^ 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. S2CID 20220507.
  7. ^ a b "Entrez Gene: APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)".
  8. ^ Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (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.
  9. ^ 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.
  10. ^ McLoughlin DM, Standen CL, Lau KF, Ackerley S, Bartnikas TP, Gitlin JD, Miller CC (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.
  11. ^ Borg JP, Straight SW, Kaech SM, de Taddéo-Borg M, Kroon DE, Karnak D, Turner RS, Kim SK, Margolis B (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.
  12. ^ Borg JP, Lõpez-Figueroa MO, de Taddèo-Borg M, Kroon DE, Turner RS, Watson SJ, Margolis B (February 1999). "Molecular analysis of the X11-mLin-2/CASK complex in brain". J. Neurosci. 19 (4): 1307–16. doi:10.1523/JNEUROSCI.19-04-01307.1999. PMC 6786035. PMID 9952408.
  13. ^ 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. doi:10.1523/JNEUROSCI.22-17-07340.2002. PMC 6757996. PMID 12196555.
  14. ^ 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. doi:10.1128/mcb.16.11.6229. PMC 231626. PMID 8887653.

Further reading


Stub icon

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by adding missing information.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.