AP4S1

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Adaptor-related protein complex 4, sigma 1 subunit
Identifiers
Symbols AP4S1 ; AP47B; CLA20; CLAPS4; CPSQ6; SPG52
External IDs OMIM607243 MGI1337065 HomoloGene32513 GeneCards: AP4S1 Gene
Orthologs
Species Human Mouse
Entrez 11154 11782
Ensembl ENSG00000100478 ENSMUSG00000020955
UniProt Q9Y587 Q9WVL1
RefSeq (mRNA) NM_001128126 NM_021710
RefSeq (protein) NP_001121598 NP_068356
Location (UCSC) Chr 14:
31.49 – 31.56 Mb
Chr 12:
51.69 – 51.74 Mb
PubMed search [1] [2]

AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.1

Function

The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1, this gene).1

Clinical relevance

It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.2

References

  1. ^ a b "Entrez Gene: adaptor-related protein complex 4". 
  2. ^ 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 (May 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








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