AP4E1

AP4E1
Identifiers
Aliases	AP4E1 , CPSQ4, SPG51, STUT1, adaptor related protein complex 4 epsilon 1 subunit, adaptor related protein complex 4 subunit epsilon 1
External IDs	OMIM: 607244 MGI: 1336993 HomoloGene: 22397 GeneCards: AP4E1
Gene location (Human)
Chr.	Chromosome 15 (human)
End	51,005,895 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	126,909,829 bp
RNA expression pattern
	Top expressed in
	palpebral conjunctiva; ; human penis; ; amniotic fluid; ; Achilles tendon; ; tibia; ; gastrocnemius muscle; ; saphenous vein; ; monocyte; ; body of tongue; ; vulva;
	Top expressed in
	hand; ; cumulus cell; ; foot; ; triceps brachii muscle; ; left lung lobe; ; vastus lateralis muscle; ; vas deferens; ; soleus muscle; ; tibialis anterior muscle; ; otolith organ;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ;
Cellular component	membrane coat ; Golgi apparatus ; trans-Golgi network membrane ; endosome lumen ; membrane ; AP-4 adaptor complex ;
Biological process	protein transport ; intracellular protein transport ; vesicle-mediated transport ; protein targeting ; protein localization ;
	Sources:Amigo / QuickGO
Orthologs
	23431
	108011
	ENSG00000081014
	ENSMUSG00000001998
	Q9UPM8
	Q80V94
	NM_001252127 ; NM_007347
	NM_175550
	NP_001239056 ; NP_031373
	NP_780759
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated November 29, 2023

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

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]

Related Research Articles

AP-2 complex subunit mu is a protein that in humans is encoded by the AP2M1 gene.

AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene.

AP-1 complex subunit mu-1 is a protein that in humans is encoded by the AP1M1 gene.

AP-1 complex subunit gamma-1 is a protein that in humans is encoded by the AP1G1 gene.

Clathrin heavy chain 1 is a protein that in humans is encoded by the CLTC gene.

AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.

AP-3 complex subunit delta-1 is a protein that in humans is encoded by the AP3D1 gene.

AP-1 complex subunit mu-2 is a protein that in humans is encoded by the AP1M2 gene.

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.

Coatomer subunit gamma-2 is a protein that in humans is encoded by the COPG2 gene.

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.

AP-2 complex subunit sigma is a protein that in humans is encoded by the AP2S1 gene.

AP-3 complex subunit sigma-1 is a protein that in humans is encoded by the AP3S1 gene.

AP-3 complex subunit beta-2 is a protein that in humans is encoded by the AP3B2 gene.

AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.

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

Clathrin adaptor proteins, also known as adaptins, are vesicular transport adaptor proteins associated with clathrin. These proteins are synthesized in the ribosomes, processed in the endoplasmic reticulum and transported from the Golgi apparatus to the trans-Golgi network, and from there via small carrier vesicles to their final destination compartment. The association between adaptins and clathrin are important for vesicular cargo selection and transporting. Clathrin coats contain both clathrin and adaptor complexes that link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Therefore, adaptor proteins are responsible for the recruitment of cargo molecules into a growing clathrin-coated pits. The two major types of clathrin adaptor complexes are the heterotetrameric vesicular transport adaptor proteins (AP1-5), and the monomeric GGA adaptors. Adaptins are distantly related to the other main type of vesicular transport proteins, the coatomer subunits, sharing between 16% and 26% of their amino acid sequence.

The C-terminal domain ofBeta2-adaptin is a protein domain is involved in cell trafficking by aiding import and export of substances in and out of the cell.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000081014 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001998 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: adaptor-related protein complex 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. doi:10.1016/j.ajhg.2011.04.019. PMC 3113253 . PMID 21620353.

External links

Human AP4E1 genome location and AP4E1 gene details page in the UCSC Genome Browser .