AP4E1

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

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
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q21.2Start50,908,672 bp[1]
End51,005,895 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 2: 127.01 – 127.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Model organisms

Model organisms have been used in the study of AP4E1 function. A conditional knockout mouse line, called Ap4e1tm1a(KOMP)Wtsi[14][15] 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.[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][19] Twenty four tests were carried out on homozygous mutant mice and four significant abnormalities were observed.[12] 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.[12]

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.
  7. "Anxiety data for Ap4e1". Wellcome Trust Sanger Institute.
  8. "Clinical chemistry data for Ap4e1". Wellcome Trust Sanger Institute.
  9. "Haematology data for Ap4e1". Wellcome Trust Sanger Institute.
  10. "Salmonella infection data for Ap4e1". Wellcome Trust Sanger Institute.
  11. "Citrobacter infection data for Ap4e1". Wellcome Trust Sanger Institute.
  12. 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.
  13. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. "International Knockout Mouse Consortium".
  15. "Mouse Genome Informatics".
  16. 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.
  17. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  18. 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.
  19. 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

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