Genomes and Genes
Gene Symbol: AP4M1
Description: adaptor related protein complex 4 subunit mu 1
Alias: CPSQ3, MU-4, MU-ARP2, SPG50, AP-4 complex subunit mu-1, AP-4 adaptor complex mu subunit, adapter-related protein complex 4 mu-1 subunit, adapter-related protein complex 4 subunit mu-1, adaptor related protein complex 4 mu 1 subunit, adaptor-related protein complex AP-4 mu4 subunit, mu subunit of AP-4, mu-adaptin-related protein-2, mu4, mu4-adaptin
- Lavezzari G, McCallum J, Dewey C, Roche K. Subunit-specific regulation of NMDA receptor endocytosis. J Neurosci. 2004;24:6383-91 pubmed..Our findings demonstrate fundamental differences between NR2A and NR2B that help clarify developmental changes in NMDA receptor trafficking and surface expression. ..
- Simmen T, Honing S, Icking A, Tikkanen R, Hunziker W. AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells. Nat Cell Biol. 2002;4:154-9 pubmed..1B, sigma 1), AP-2 (beta 2, alpha, mu 2, sigma 2), AP-3 (beta 3 , delta, mu 3, sigma 3) or AP-4 (beta 4, epsilon, mu 4, sigma 4), have been characterized...
- Burgos P, Mardones G, Rojas A, daSilva L, Prabhu Y, Hurley J, et al. Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex. Dev Cell. 2010;18:425-36 pubmed publisher..of an YKFFE sequence from the cytosolic tail of the Alzheimer's disease amyloid precursor protein (APP) with the mu4 subunit of AP-4...
- Aguilar R, Boehm M, Gorshkova I, Crouch R, Tomita K, Saito T, et al. Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4. J Biol Chem. 2001;276:13145-52 pubmed..Here, we describe the signal-binding specificity and affinity of the medium subunit mu4 of the recently described adaptor protein complex AP-4...
- Jameel M, Klar J, Tariq M, Moawia A, Altaf Malik N, Seema Waseem S, et al. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency. BMC Med Genet. 2014;15:133 pubmed publisher..We performed whole-exome sequencing (WES) in two brothers with CP and intellectual disability. Analysis of AP4M1 mRNA was performed using quantitative real-time PCR on total RNA from cultured fibroblasts...
- Dell Angelica E, Mullins C, Bonifacino J. AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem. 1999;274:7278-85 pubmed..complex (AP-4) that also contains the sigma4 polypeptide and two additional adaptor subunit homologs named mu4 (mu-ARP2) and epsilon...
- Raza M, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, et al. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. Am J Hum Genet. 2015;97:715-25 pubmed publisher..These findings implicate deficits in intracellular trafficking in persistent stuttering. ..
- Stephens D, Banting G. Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120. Biochem J. 1998;335 ( Pt 3):567-72 pubmed..We also show that the newly identified mu-adaptin-related protein 2 (mu4) only interacts weakly with tyrosine-based sorting motifs.
- Hirst J, Bright N, Rous B, Robinson M. Characterization of a fourth adaptor-related protein complex. Mol Biol Cell. 1999;10:2787-802 pubmed..by a combination of coimmunoprecipitation and yeast two-hybrid analysis that these four proteins (epsilon, beta4, mu4, and sigma4) are components of a novel adaptor-like heterotetrameric complex, which we are calling AP-4...