APBA2

APBA2
Identifiers
Aliases	APBA2 , D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L, amyloid beta precursor protein binding family A member 2
External IDs	OMIM: 602712; MGI: 1261791; HomoloGene: 4021; GeneCards: APBA2; OMA:APBA2 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q13.1 Start 28,884,483 bp [1] End 29,118,315 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 C|7 34.65 cM Start 64,501,706 bp [2] End 64,753,878 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus right hemisphere of cerebellum primary visual cortex prefrontal cortex right frontal lobe Brodmann area 9 anterior cingulate cortex hippocampus proper ganglionic eminence C1 segment Top expressed in dentate gyrus of hippocampal formation granule cell primary visual cortex superior frontal gyrus perirhinal cortex CA3 field entorhinal cortex cerebellar cortex hippocampus proper primary motor cortex cingulate gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function amyloid-beta binding protein binding identical protein binding Cellular component plasma membrane synaptic vesicle Schaffer collateral - CA1 synapse cytoplasm dendritic spine synapse Biological process regulation of gene expression protein transport in utero embryonic development locomotory behavior nervous system development multicellular organism growth chemical synaptic transmission regulation of synaptic vesicle exocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 321 11784 Ensembl ENSG00000034053 ENSG00000276495 ENSMUSG00000030519 UniProt Q99767 P98084 RefSeq (mRNA) NM_001130414 NM_005503 NM_001353788 NM_001353789 NM_001353790 NM_001353791 NM_001353792 NM_001353793 NM_001353794 NM_001353795 NM_001353796 NM_001353797 NM_001379685 NM_001291166 NM_001291167 NM_007461 RefSeq (protein) NP_001123886 NP_005494 NP_001340717 NP_001340718 NP_001340719 NP_001340720 NP_001340721 NP_001340722 NP_001340723 NP_001340724 NP_001340725 NP_001340726 NP_001366614 NP_001278095 NP_001278096 NP_031487 Location (UCSC) Chr 15: 28.88 – 29.12 Mb Chr 7: 64.5 – 64.75 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Amyloid beta A4 precursor protein-binding family A member 2 is a protein that in humans is encoded by the APBA2 gene. ^{[5] [6]}

Structure

This protein has phosphotyrosine-binding domain (PTB domain or PID) in the middle and two PDZ domains at C-terminal.

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. ^[6]

Interactions

APBA2 has been shown to interact with CLSTN1, ^{[7] [8]} RELA ^[9] and amyloid precursor protein. ^{[7] [10] [11]}

References

1. ENSG00000276495 GRCh38: Ensembl release 89: ENSG00000034053, ENSG00000276495 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030519 – 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. McLoughlin DM, Miller CC (January 1997). "The intracellular cytoplasmic domain of the Alzheimer's disease amyloid precursor protein interacts with phosphotyrosine-binding domain proteins in the yeast two-hybrid system". FEBS Lett. 397 (2–3): 197–200. doi: 10.1016/S0014-5793(96)01128-3 . PMID   8955346.
6. "Entrez Gene: APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)".
7. Araki Y, Tomita S, Yamaguchi H, Miyagi N, Sumioka A, Kirino Y, Suzuki T (December 2003). "Novel cadherin-related membrane proteins, Alcadeins, enhance the X11-like protein-mediated stabilization of amyloid beta-protein precursor metabolism". J. Biol. Chem. 278 (49): 49448–58. doi: 10.1074/jbc.M306024200 . PMID   12972431.
8. Araki Y, Miyagi N, Kato N, Yoshida T, Wada S, Nishimura M, Komano H, Yamamoto T, De Strooper B, Yamamoto K, Suzuki T (June 2004). "Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation". J. Biol. Chem. 279 (23): 24343–54. doi: 10.1074/jbc.M401925200 . PMID   15037614.
9. Tomita S, Fujita T, Kirino Y, Suzuki T (April 2000). "PDZ domain-dependent suppression of NF-kappaB/p65-induced Abeta42 production by a neuron-specific X11-like protein". J. Biol. Chem. 275 (17): 13056–60. doi: 10.1074/jbc.C000019200 . PMID   10777610.
10. 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.
11. Tomita S, Ozaki T, Taru H, Oguchi S, Takeda S, Yagi Y, Sakiyama S, Kirino Y, Suzuki T (January 1999). "Interaction of a neuron-specific protein containing PDZ domains with Alzheimer's amyloid precursor protein". J. Biol. Chem. 274 (4): 2243–54. doi: 10.1074/jbc.274.4.2243 . PMID   9890987.

External links

• Human APBA2 genome location and APBA2 gene details page in the UCSC Genome Browser .

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. doi:10.1016/S0968-0004(00)89043-X. PMID   7545337.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Okamoto M, Südhof TC (1998). "Mints, Munc18-interacting proteins in synaptic vesicle exocytosis". J. Biol. Chem. 272 (50): 31459–64. doi: 10.1074/jbc.272.50.31459 . PMID   9395480.
• Blanco G, Irving NG, Brown SD, Miller CC, McLoughlin DM (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. doi:10.1007/s003359900800. PMID   9585438. S2CID   31066473.
• Borg JP, Yang Y, De Taddéo-Borg M, Margolis B, Turner RS (1998). "The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion". J. Biol. Chem. 273 (24): 14761–6. doi: 10.1074/jbc.273.24.14761 . PMID   9614075.
• Borg JP, Straight SW, Kaech SM, de Taddéo-Borg M, Kroon DE, Karnak D, Turner RS, Kim SK, Margolis B (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.
• Okamoto M, Südhof TC (1999). "Mint 3: a ubiquitous mint isoform that does not bind to munc18-1 or -2". Eur. J. Cell Biol. 77 (3): 161–5. doi:10.1016/s0171-9335(98)80103-9. PMID   9860131.
• Tomita S, Ozaki T, Taru H, Oguchi S, Takeda S, Yagi Y, Sakiyama S, Kirino Y, Suzuki T (1999). "Interaction of a neuron-specific protein containing PDZ domains with Alzheimer's amyloid precursor protein". J. Biol. Chem. 274 (4): 2243–54. doi: 10.1074/jbc.274.4.2243 . PMID   9890987.
• McLoughlin DM, Irving NG, Brownlees J, Brion JP, Leroy K, Miller CC (1999). "Mint2/X11-like colocalizes with the Alzheimer's disease amyloid precursor protein and is associated with neuritic plaques in Alzheimer's disease". Eur. J. Neurosci. 11 (6): 1988–94. doi:10.1046/j.1460-9568.1999.00610.x. PMID   10336668. S2CID   42411043.
• Tomita S, Fujita T, Kirino Y, Suzuki T (2000). "PDZ domain-dependent suppression of NF-kappaB/p65-induced Abeta42 production by a neuron-specific X11-like protein". J. Biol. Chem. 275 (17): 13056–60. doi: 10.1074/jbc.C000019200 . PMID   10777610.
• Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA, Stockinger W, Nimpf J, Herz J (2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. 275 (33): 25616–24. doi: 10.1074/jbc.M000955200 . PMID   10827173.
• Lee DS, Tomita S, Kirino Y, Suzuki T (2000). "Regulation of X11L-dependent amyloid precursor protein metabolism by XB51, a novel X11L-binding protein". J. Biol. Chem. 275 (30): 23134–8. doi: 10.1074/jbc.C000302200 . PMID   10833507.
• Biederer T, Südhof TC (2001). "Mints as adaptors. Direct binding to neurexins and recruitment of munc18". J. Biol. Chem. 275 (51): 39803–6. doi: 10.1074/jbc.C000656200 . 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:10.1006/mcne.2000.0898. PMID   11083918. S2CID   54389955.
• Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL (2003). "Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures". BMC Genomics. 4 (1) 15. doi: 10.1186/1471-2164-4-15 . PMC   156605 . PMID   12720574.
• Sumioka A, Imoto S, Martins RN, Kirino Y, Suzuki T (2003). "XB51 isoforms mediate Alzheimer's beta-amyloid peptide production by X11L (X11-like protein)-dependent and -independent mechanisms". Biochem. J. 374 (Pt 1): 261–8. doi:10.1042/BJ20030489. PMC   1223589 . PMID   12780348.