From Wikipedia, the free encyclopedia
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene .[ 5] [ 6] [ 7]
Function
This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system.[ 7]
Interactions
AP4M1 has been shown to interact with AP4B1 .[ 8]
Clinical relevance
The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[ 9]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000221838 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019518 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Wang X, Kilimann MW (Feb 1997). "Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2" . FEBS Lett . 402 (1): 57–61. doi :10.1016/S0014-5793(96)01500-1 PMID 9013859 . S2CID 81844290 . ^ Dell'Angelica EC, Mullins C, Bonifacino JS (Apr 1999). "AP-4, a novel protein complex related to clathrin adaptors" . J Biol Chem . 274 (11): 7278–85. doi :10.1074/jbc.274.11.7278 PMID 10066790 . ^ a b "Entrez Gene: AP4M1 adaptor-related protein complex 4, mu 1 subunit" .^ Hirst J, Bright NA, Rous B, Robinson MS (August 1999). "Characterization of a fourth adaptor-related protein complex" . Mol. Biol. Cell . 10 (8): 2787–802. doi :10.1091/mbc.10.8.2787 . PMC 25515 PMID 10436028 . ^ Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (June 2011). "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature" . Am. J. Hum. Genet . 88 (6): 788–95. doi :10.1016/j.ajhg.2011.04.019 . PMC 3113253 PMID 21620353 .
External links
Further reading
Stephens DJ, Banting G (1998). "Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120" . Biochem. J . 335 (Pt 3): 567–72. doi :10.1042/bj3350567 . PMC 1219817 PMID 9794796 . Hirst J, Bright NA, Rous B, Robinson MS (1999). "Characterization of a Fourth Adaptor-related Protein Complex" . Mol. Biol. Cell . 10 (8): 2787–802. doi :10.1091/mbc.10.8.2787 . PMC 25515 PMID 10436028 . Aguilar RC, Boehm M, Gorshkova I, et al. (2001). "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4" . J. Biol. Chem . 276 (16): 13145–52. doi :10.1074/jbc.M010591200 PMID 11139587 . Boehm M, Aguilar RC, Bonifacino JS (2002). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)" . EMBO J . 20 (22): 6265–76. doi :10.1093/emboj/20.22.6265 . PMC 125733 PMID 11707398 . Simmen T, Höning S, Icking A, et al. (2002). "AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells". Nat. Cell Biol . 4 (2): 154–9. doi :10.1038/ncb745 . PMID 11802162 . S2CID 28781777 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology" . Science . 300 (5620): 767–72. doi :10.1126/science.1083423 . PMC 2882961 PMID 12690205 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 .
