AP4E1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesAP4E1, CPSQ4, SPG51, STUT1, adaptor related protein complex 4 epsilon 1 subunit, adaptor related protein complex 4 subunit epsilon 1
End51,005,895 bp[1]
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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; OMA:AP4E1 - orthologs
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
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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; this gene), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1).[5]

Clinical relevance

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

References

Further reading

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