AP4M1

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AP4M1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases AP4M1, CPSQ3, MU-4, MU-ARP2, SPG50, adaptor related protein complex 4 mu 1 subunit
External IDs MGI: 1337063 HomoloGene: 3467 GeneCards: AP4M1
RNA expression pattern
PBB GE AP4M1 209837 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004722

NM_021392

RefSeq (protein)

NP_004713

NP_067367.3
NP_067367

Location (UCSC) Chr 7: 100.1 – 100.11 Mb Chr 5: 138.17 – 138.18 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.[3][4][5]

Function[edit]

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.[5]

Interactions[edit]

AP4M1 has been shown to interact with AP4B1.[6]

Clinical relevance[edit]

The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: AP4M1 adaptor-related protein complex 4, mu 1 subunit". 
  6. ^ 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 25515Freely accessible. PMID 10436028. 
  7. ^ 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 3113253Freely accessible. PMID 21620353. 

External links[edit]

Further reading[edit]