AP4E1
Sign in to saveAlso 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.
In the Vinony graph
Vinony's link graph records 84 inbound references to AP4E1, and connects out to PubMed, human chromosome 15 and Ensembl genome database project.
It sits within the topics Genes mutated in mice and Genes on human chromosome 15.
Vinony links it to 5 Wikipedia language editions.
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
Biological process
Molecular function
Pathways
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
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
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- 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.