AP4E1

Protein-coding gene in the species Homo sapiens
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; OMA:AP4E1 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for AP4E1
Genomic location for AP4E1
Band15q21.2Start50,908,672 bp[1]
End51,005,895 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for AP4E1
Genomic location for AP4E1
Band2 F1|2 61.76 cMStart126,850,637 bp[2]
End126,909,829 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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: 126.85 – 126.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000081014 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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

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.
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