AP4S1

AP4S1
Identifiers
AliasesAP4S1, AP47B, CLA20, CLAPS4, CPSQ6, SPG52, adaptor related protein complex 4 sigma 1 subunit, adaptor related protein complex 4 subunit sigma 1
External IDsOMIM: 607243; MGI: 1337065; GeneCards: AP4S1
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

11154

11782

Ensembl

ENSG00000100478

ENSMUSG00000020955

UniProt

Q9Y587

Q9WVL1

RefSeq (mRNA)

NM_021710
NM_001329698
NM_001329699

RefSeq (protein)

NP_001316627
NP_001316628
NP_068356

Location (UCSC)Chr 14: 31.03 – 31.13 MbChr 12: 51.74 – 51.79 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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).

Clinical relevance

Deficiency of AP-4 leads to childhood-onset hereditary spastic paraplegia and it is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100478 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020955 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: adaptor-related protein complex 4".
  6. ↑ 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