AP4E1

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Adaptor-related protein complex 4, epsilon 1 subunit
Identifiers
Symbols AP4E1 ; CPSQ4; SPG51
External IDs OMIM607244 MGI1336993 HomoloGene22397 GeneCards: AP4E1 Gene
Orthologs
Species Human Mouse
Entrez 23431 108011
Ensembl ENSG00000081014 ENSMUSG00000001998
UniProt Q9UPM8 Q80V94
RefSeq (mRNA) NM_001252127 NM_175550
RefSeq (protein) NP_001239056 NP_780759
Location (UCSC) Chr 15:
51.2 – 51.3 Mb
Chr 2:
127.01 – 127.07 Mb
PubMed search [1] [2]

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

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).[1]

Clinical relevance[edit]

It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[2]

Model organisms[edit]

Model organisms have been used in the study of AP4E1 function. A conditional knockout mouse line, called Ap4e1tm1a(KOMP)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on homozygous mutant mice and four significant abnormalities were observed.[8] Females displayed decreased vertical activity in an open field test, had an abnormal complete blood count, hypoferremia, and a decreased corpus callosum size and enlarged lateral ventricles.[8]

References[edit]

  1. ^ a b "Entrez Gene: adaptor-related protein complex 4". 
  2. ^ Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, N?then 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. 
  3. ^ "Anxiety data for Ap4e1". Wellcome Trust Sanger Institute. 
  4. ^ "Clinical chemistry data for Ap4e1". Wellcome Trust Sanger Institute. 
  5. ^ "Haematology data for Ap4e1". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Ap4e1". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Ap4e1". Wellcome Trust Sanger Institute. 
  8. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  11. ^ "Mouse Genome Informatics". 
  12. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  13. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  14. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]