AP4S1

Summary

Gene Symbol: AP4S1
Description: adaptor related protein complex 4 subunit sigma 1
Alias: AP47B, CLA20, CLAPS4, CPSQ6, SPG52, AP-4 complex subunit sigma-1, AP-4 adapter complex subunit sigma-1, AP-4 adaptor complex subunit sigma-1, adaptor related protein complex 4 sigma 1 subunit, clathrin-associated/assembly/adaptor protein, sigma 4, sigma-4-adaptin
Species: human
Products:     AP4S1

Top Publications

  1. Abou Jamra R, Philippe O, Raas Rothschild A, Eck S, Graf E, Buchert R, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011;88:788-795 pubmed publisher
    ..one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(?)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p...
  2. 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
    ..We propose that, like the related AP-1, AP-2, and AP-3 complexes, AP-4 plays a role in signal-mediated trafficking of integral membrane proteins in mammalian cells. ..
  3. Hirst J, Bright N, Rous B, Robinson M. Characterization of a fourth adaptor-related protein complex. Mol Biol Cell. 1999;10:2787-802 pubmed
    ..AP-4 is of relatively low abundance, but it is expressed ubiquitously, suggesting that it participates in a specialized trafficking pathway but one that is required in all cell types. ..
  4. Hardies K, May P, Djémié T, Tarta Arsene O, Deconinck T, Craiu D, et al. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet. 2015;24:2218-27 pubmed publisher
    ..delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the ? subunit of the adaptor protein complex 4 (AP-4)...
  5. Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, et al. Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. Eur J Neurol. 2016;23:1580-7 pubmed publisher
    ..Our investigations identified loss-of-function mutations in AP4S1/SPG52 in four children (three families) who had previously received a diagnosis of diplegic/quadriplegic CP...

Detail Information

Publications5

  1. Abou Jamra R, Philippe O, Raas Rothschild A, Eck S, Graf E, Buchert R, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011;88:788-795 pubmed publisher
    ..one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(?)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p...
  2. 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
    ..We propose that, like the related AP-1, AP-2, and AP-3 complexes, AP-4 plays a role in signal-mediated trafficking of integral membrane proteins in mammalian cells. ..
  3. Hirst J, Bright N, Rous B, Robinson M. Characterization of a fourth adaptor-related protein complex. Mol Biol Cell. 1999;10:2787-802 pubmed
    ..AP-4 is of relatively low abundance, but it is expressed ubiquitously, suggesting that it participates in a specialized trafficking pathway but one that is required in all cell types. ..
  4. Hardies K, May P, Djémié T, Tarta Arsene O, Deconinck T, Craiu D, et al. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet. 2015;24:2218-27 pubmed publisher
    ..delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the ? subunit of the adaptor protein complex 4 (AP-4)...
  5. Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, et al. Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. Eur J Neurol. 2016;23:1580-7 pubmed publisher
    ..Our investigations identified loss-of-function mutations in AP4S1/SPG52 in four children (three families) who had previously received a diagnosis of diplegic/quadriplegic CP...