AP4S1

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AP4S1
Identifiers
Aliases AP4S1, AP47B, CLA20, CLAPS4, CPSQ6, SPG52, adaptor related protein complex 4 sigma 1 subunit
External IDs MGI: 1337065 HomoloGene: 32513 GeneCards: AP4S1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021710
NM_001329698
NM_001329699

RefSeq (protein)

NP_001316627
NP_001316628
NP_068356

Location (UCSC) Chr 14: 31.03 – 31.1 Mb Chr 12: 51.69 – 51.74 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.[3]

Function[edit]

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).[3]

Clinical relevance[edit]

It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[4]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: adaptor-related protein complex 4". 
  4. ^ 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. PMC 3113253Freely accessible. PMID 21620353. doi:10.1016/j.ajhg.2011.04.019. 

External links[edit]

Further reading[edit]