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Ap4e1
Gene Detail
Symbol

Name
ID
Ap4e1
adaptor-related protein complex AP-4, epsilon 1
MGI:1336993
Synonyms
2310033A20Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 2
61.76 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr2:127008717-127067909 bp, + strand
From VEGA annotation of GRCm38

  59193 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22397  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: AP4E1
Protein SuperFamily: adaptor protein complex AP-4, epsilon subunit
Gene Tree: Ap4e1

Human
homologs
AP4E1, adaptor-related protein complex 4, epsilon 1 subunit
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 23431
neXtProt AC: NX_Q9UPM8

Human Synonyms: CPSQ4, SPG51

Human Chr (Location): 15q21.2; chr15:50908625-51005900 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human AP4E1

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Endonuclease-mediated(1) Gene trapped(6) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia.
 
Interactions
Ap4e1 interacts with 315 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process intracellular protein transport, protein transport, ...
Component coated pit, Golgi apparatus, ...
External Resources: FuncBase
Expression
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ap4e1    NEW 
Molecular
reagents
All nucleic(10) cDNA(9) Other(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000016016 (Evidence)
Ensembl Gene Model ENSMUSG00000001998 (Evidence)
Entrez Gene 108011 (Evidence)
DFCI TC1586577, TC1597764, TC1632803
DoTS DT.110714887, DT.91330973, DT.91423131, DT.91557552
NIA Mouse Gene Index U002425
Consensus CDS Project CCDS38231.1
International Mouse Phenotyping Consortium Status Ap4e1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016016 VEGA Gene Model | MGI Sequence Detail 59193 C57BL/6J ±  kb
transcript OTTMUST00000038164 VEGA | MGI Sequence Detail 4600 Not Applicable 
polypeptide OTTMUSP00000017114 VEGA | MGI Sequence Detail 1122 Not Applicable 

For the selected sequences
All sequences(75) RefSeq(18) UniProt(7)
Polymorphisms
SNPs within 2kb(628 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017109 Adaptor protein complex AP-4, epsilon subunit
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Protein Ontology PR:000004112 AP-4 complex subunit epsilon-1
References
(Earliest) J:48443 Odorizzi G, et al., The AP-3 complex: a coat of many colours. Trends Cell Biol. 1998 Jul;8(7):282-8
(Latest) J:200082 White JK, et al., Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell. 2013 Jul 18;154(2):452-64
All references(37)
Other
accession IDs
MGI:1916807, MGI:2139249, MGI:2442701

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory