Protein-coding gene in the species Homo sapiens
AP4E1 |
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Identifiers |
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Aliases | AP4E1, CPSQ4, SPG51, STUT1, adaptor related protein complex 4 epsilon 1 subunit, adaptor related protein complex 4 subunit epsilon 1 |
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External IDs | OMIM: 607244; MGI: 1336993; HomoloGene: 22397; GeneCards: AP4E1; OMA:AP4E1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 15 (human)[1] |
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| Band | 15q21.2 | Start | 50,908,672 bp[1] |
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End | 51,005,895 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 2 (mouse)[2] |
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| Band | 2 F1|2 61.76 cM | Start | 126,850,637 bp[2] |
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End | 126,909,829 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | | 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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 15: 50.91 – 51.01 Mb | Chr 2: 126.85 – 126.91 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000081014 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "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
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. 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.