AP4M1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Adaptor-related protein complex 4, mu 1 subunit
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols AP4M1 ; CPSQ3; MU-4; MU-ARP2; SPG50
External IDs OMIM602296 MGI1337063 HomoloGene3467 GeneCards: AP4M1 Gene
RNA expression pattern
PBB GE AP4M1 209837 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9179 11781
Ensembl ENSG00000221838 ENSMUSG00000019518
UniProt O00189 Q9JKC7
RefSeq (mRNA) NM_004722 NM_021392
RefSeq (protein) NP_004713 NP_067367
Location (UCSC) Chr 7:
99.7 – 99.71 Mb
Chr 5:
138.17 – 138.18 Mb
PubMed search [1] [2]

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.[1][2][3]

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.[3]

Interactions[edit]

AP4M1 has been shown to interact with AP4B1.[4]

Clinical relevance[edit]

The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[5]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: AP4M1 adaptor-related protein complex 4, mu 1 subunit". 
  4. ^ 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. 
  5. ^ 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. 

Further reading[edit]