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GeneQ18037175· pop 5· linked from 84 articles

AP4E1

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Also known as CPSQ4, SPG51, STUT1, adaptor related protein complex 4 epsilon 1 subunit, adaptor related protein complex 4 subunit epsilon 1

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

Gene data

AP4E1
Name
adaptor related protein complex 4 subunit epsilon 1
Type
protein-coding
Position
50,908,668–51,005,899 (+)
Aliases
CPSQ4, SPG51, STUT1
Ensembl
ENSG00000081014
RefSeq RNA
NM_001252127.2, NM_007347.5, XM_005254264.5, XM_006720447.5, XM_047432324.1
RefSeq protein
NP_001239056.1, NP_031373.2, XP_005254321.1, XP_006720510.1, XP_047288280.1

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].

Gene Ontology

Pathways

Lysosome - Homo sapiens (human)Membrane Traffickingtrans-Golgi Network Vesicle BuddingLysosome Vesicle BiogenesisGolgi Associated Vesicle BiogenesisVesicle-mediated transport

via MyGene.info

Gene · Ensembl

adaptor related protein complex 4 subunit epsilon 1

Symbol
AP4E1
Biotype
Protein coding
Organism
Homo sapiens
Location
15:50,908,668-51,005,899
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Show 7 more facts
HomoloGene ID
22397
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/23431
genomic end
51005895
genomic start
51200869
chromosome
human chromosome 15
cytogenetic location
15q21.2
Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

5 sections
Contents
  • Function
  • Clinical relevance
  • References
  • External links
  • Further reading

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

== Function ==

Excerpted from Wikipedia’s “AP4E1” article, available under the CC BY-SA 4.0 licence.

Available in 5 languages

via Wikidata sitelinks · CC0