Ap4s1

Summary

Gene Symbol: Ap4s1
Description: adaptor-related protein complex AP-4, sigma 1
Alias: AI314282, AP-4 complex subunit sigma-1, AP-4 adapter complex subunit sigma-1, adapter-related protein complex 4 subunit sigma-1, sigma4-adaptin
Species: mouse
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. Fink J. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126:307-28 pubmed publisher
    ..g. SPG47/AP4B1, SPG48/KIAA0415, SPG50/AP4M1, SPG51/AP4E, SPG52/AP4S1, and VSPG53/VPS37A). The availability of animal models (including bovine, murine, zebrafish, Drosophila, and C...
  4. Wang H, Xu Y, Chen M, Shang Q, Sun Y, Zhu D, et al. Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population. Mol Biol Rep. 2013;40:6459-67 pubmed publisher
    ..AP-4 consists of four subunits encoded by the AP4E1, AP4B1, AP4M1, and AP4S1 genes...
  5. Park S, Guo X. Adaptor protein complexes and intracellular transport. Biosci Rep. 2014;34: pubmed publisher
  6. 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)...

Detail Information

Publications6

  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. Fink J. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126:307-28 pubmed publisher
    ..g. SPG47/AP4B1, SPG48/KIAA0415, SPG50/AP4M1, SPG51/AP4E, SPG52/AP4S1, and VSPG53/VPS37A). The availability of animal models (including bovine, murine, zebrafish, Drosophila, and C...
  4. Wang H, Xu Y, Chen M, Shang Q, Sun Y, Zhu D, et al. Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population. Mol Biol Rep. 2013;40:6459-67 pubmed publisher
    ..AP-4 consists of four subunits encoded by the AP4E1, AP4B1, AP4M1, and AP4S1 genes...
  5. Park S, Guo X. Adaptor protein complexes and intracellular transport. Biosci Rep. 2014;34: pubmed publisher
  6. 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)...