AP4E1

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AP4E1
Identifiers
AliasesAP4E1, CPSQ4, SPG51, STUT1, adaptor related protein complex 4 epsilon 1 subunit, adaptor related protein complex 4 subunit epsilon 1
External IDsOMIM: 607244 MGI: 1336993 HomoloGene: 22397 GeneCards: AP4E1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252127
NM_007347

NM_175550

RefSeq (protein)

NP_001239056
NP_031373

NP_780759

Location (UCSC)Chr 15: 50.91 – 51.01 MbChr 2: 126.85 – 126.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.[5]

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; this gene), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1).[5]

Clinical relevance[edit]

It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081014 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001998 - 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. ^ a b "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.

External links[edit]

Further reading[edit]