AP4M1

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.

AP4M1 has been shown to interact with AP4B1.{{cite journal |vauthors=Hirst J, Bright NA, Rous B, Robinson MS | title = Characterization of a fourth adaptor-related protein complex | journal = Mol. Biol. Cell | volume = 10 | issue = 8 | pages = 2787–802 |date=August 1999 | pmid = 10436028 | pmc = 25515 | doi = 10.1091/mbc.10.8.2787}}

The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.{{cite journal |vauthors=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 | title = Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature | journal = Am. J. Hum. Genet. | volume = 88 | issue = 6 | pages = 788–95 |date=June 2011 | pmid = 21620353 | pmc = 3113253 | doi = 10.1016/j.ajhg.2011.04.019 }} Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia.

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• {{UCSC gene info|AP4M1}}
• {{PDBe-KB2|O00189|Human AP-4 complex subunit mu-1}}

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• {{cite journal |vauthors=Stephens DJ, Banting G |title=Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120 |journal=Biochem. J. |volume=335 |issue= Pt 3|pages= 567–72 |year= 1998 |pmid= 9794796 |doi= 10.1042/bj3350567| pmc=1219817 }}
• {{cite journal |vauthors=Hirst J, Bright NA, Rous B, Robinson MS |title=Characterization of a Fourth Adaptor-related Protein Complex |journal=Mol. Biol. Cell |volume=10 |issue= 8 |pages= 2787–802 |year= 1999 |pmid= 10436028 |doi= 10.1091/mbc.10.8.2787| pmc=25515 }}
• {{cite journal | author=Aguilar RC |title=Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4 |journal=J. Biol. Chem. |volume=276 |issue= 16 |pages= 13145–52 |year= 2001 |pmid= 11139587 |doi= 10.1074/jbc.M010591200 | name-list-style=vanc | author2=Boehm M | author3=Gorshkova I | display-authors=3 | last4=Crouch | first4=RJ | last5=Tomita | first5=K | last6=Saito | first6=T | last7=Ohno | first7=H | last8=Bonifacino | first8=JS | doi-access=free }}
• {{cite journal |vauthors=Boehm M, Aguilar RC, Bonifacino JS |title=Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs) |journal=EMBO J. |volume=20 |issue= 22 |pages= 6265–76 |year= 2002 |pmid= 11707398 |doi= 10.1093/emboj/20.22.6265 | pmc=125733 }}
• {{cite journal | author=Simmen T |title=AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells |journal=Nat. Cell Biol. |volume=4 |issue= 2 |pages= 154–9 |year= 2002 |pmid= 11802162 |doi= 10.1038/ncb745 | name-list-style=vanc | author2=Höning S | author3=Icking A | display-authors=3 | last4=Tikkanen | first4=Ritva | last5=Hunziker | first5=Walter |s2cid=28781777 |url=https://resolver.sub.uni-goettingen.de/purl?gro-2/44323 }}
• {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | name-list-style=vanc | author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal | author=Scherer SW |title=Human Chromosome 7: DNA Sequence and Biology |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 | pmc=2882961 | name-list-style=vanc | author2=Cheung J | author3=MacDonald JR | display-authors=3 | last4=Osborne | first4=LR | last5=Nakabayashi | first5=K | last6=Herbrick | first6=JA | last7=Carson | first7=AR | last8=Parker-Katiraee | first8=L | last9=Skaug | first9=J |bibcode=2003Sci...300..767S }}
• {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 | name-list-style=vanc | author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}

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