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; OMA:AP4E1 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q21.2 Start 50,908,672 bp [1] End 51,005,895 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 F1|2 61.76 cM Start 126,850,637 bp [2] End 126,909,829 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gingival epithelium buccal mucosa cell palpebral conjunctiva testicle human penis amniotic fluid Achilles tendon epithelium of nasopharynx tibia Skeletal muscle tissue of biceps brachii Top expressed in hand cumulus cell foot Rostral migratory stream human fetus triceps brachii muscle left lung lobe vastus lateralis muscle vas deferens medial head of gastrocnemius muscle More reference expression data BioGPS 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 Species Human Mouse Entrez 23431 108011 Ensembl ENSG00000081014 ENSMUSG00000001998 UniProt Q9UPM8 Q80V94 RefSeq (mRNA) NM_001252127 NM_007347 NM_175550 RefSeq (protein) NP_001239056 NP_031373 NP_780759 Location (UCSC) Chr 15: 50.91 – 51.01 Mb Chr 2: 126.85 – 126.91 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000081014 – Ensembl, May 2017
2. 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. "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

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

Further reading

• Dell'Angelica EC, Mullins C, Bonifacino JS (1999). "AP-4, a novel protein complex related to clathrin adaptors". J. Biol. Chem. 274 (11): 7278–85. doi: 10.1074/jbc.274.11.7278 . PMID   10066790.
• Hirst J, Bright NA, Rous B, Robinson MS (1999). "Characterization of a fourth adaptor-related protein complex". Mol. Biol. Cell. 10 (8): 2787–802. doi:10.1091/mbc.10.8.2787. PMC   25515 . PMID   10436028.
• Takatsu H, Futatsumori M, Yoshino K, et al. (2001). "Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system". Biochem. Biophys. Res. Commun. 284 (4): 1083–9. Bibcode:2001BBRC..284.1083T. doi:10.1006/bbrc.2001.5081. PMID   11409905.
• Boehm M, Aguilar RC, Bonifacino JS (2001). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)". EMBO J. 20 (22): 6265–76. doi:10.1093/emboj/20.22.6265. PMC   125733 . PMID   11707398.