Version 5.4
Homo sapiens Gene: AP4E1
Summary
InnateDB Gene IDBG-11891.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AP4E1
Gene Name adaptor-related protein complex 4, epsilon 1 subunit
Synonyms CPSQ4; SPG51
Species Homo sapiens
Ensembl Gene ENSG00000081014
Encoded Proteins
IDBP-11893
adaptor-related protein complex 4, epsilon 1 subunit
IDBP-588884
adaptor-related protein complex 4, epsilon 1 subunit
IDBP-603260
adaptor-related protein complex 4, epsilon 1 subunit
IDBP-595438
adaptor-related protein complex 4, epsilon 1 subunit
IDBP-602145
adaptor-related protein complex 4, epsilon 1 subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 15:50908672-51005900
Strand Forward strand
Band q21.2
Transcripts
ENST00000261842 ENSP00000261842
ENST00000561441 ENSP00000453112
ENST00000561393 ENSP00000452711
ENST00000558439 ENSP00000452712
ENST00000560508 ENSP00000452976
ENST00000561004
ENST00000561397
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 7 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005488 binding
Biological Process
GO:0006886 intracellular protein transport
GO:0016192 vesicle-mediated transport
Cellular Component
GO:0005794 Golgi apparatus
GO:0005905 coated pit
GO:0030117 membrane coat
GO:0030126 COPI vesicle coat
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000001998
View Gene Order
ENSBTAG00000013616
Not yet available
Pathways
NETPATH
REACTOME
REACT_19400
Golgi Associated Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_11123
Membrane Trafficking pathway
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.413366 Hs.606343 Hs.644559
RefSeq NM_001252127 NM_007347 XM_005254264 XM_006720447
HUGO
OMIM
CCDS CCDS32240 CCDS58362
HPRD 06258
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca