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AP4E1

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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)
Chromosome 15 (human)Genomic location for AP4E1Genomic location for AP4E1
Band15q21.2Start50,908,672 bp
End51,005,895 bp
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)
Chromosome 2 (mouse)Genomic location for AP4E1Genomic location for AP4E1
Band2 F1|2 61.76 cMStart126,850,637 bp
End126,909,829 bp
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
Cellular component
Biological process
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
Wikidata
View/Edit HumanView/Edit Mouse

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

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).

Clinical relevance

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

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

Further reading

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