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AP4E1 Gene

protein-coding   GIFtS: 55
GCID: GC15P051200

Adaptor-Related Protein Complex 4, Epsilon 1 Subunit

  See AP4E1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 4, Epsilon 1 Subunit1 2     epsilon-adaptin2
CPSQ42 5     Epsilon-adaptin3
SPG512 5     Adapter-Related Protein Complex 4 Subunit Epsilon-13
Adaptor-Related Protein Complex AP-4 Epsilon2     AP-4 Adapter Complex Subunit Epsilon3
AP-4 Complex Subunit Epsilon-12     Epsilon Subunit Of AP-43

External Ids:    HGNC: 5731   Entrez Gene: 234312   Ensembl: ENSG000000810147   OMIM: 6072445   UniProtKB: Q9UPM83   

Export aliases for AP4E1 gene to outside databases

Previous GC identifers: GC15P046758 GC15P044246 GC15P048780 GC15P048917 GC15P048988 GC15P028030


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AP4E1 Gene:
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)

GeneCards Summary for AP4E1 Gene:
AP4E1 (adaptor-related protein complex 4, epsilon 1 subunit) is a protein-coding gene. Diseases associated with AP4E1 include spastic paraplegia 51, and cerebral palsy. An important paralog of this gene is AP1G2.

UniProtKB/Swiss-Prot: AP4E1_HUMAN, Q9UPM8
Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting
proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

Gene Wiki entry for AP4E1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP4E1 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   Nkx3-1 v1   c-Ets-1   FOXL1   Nkx3-1 v2   FOXJ2 (long isoform)   Nkx3-1 v3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP4E1 promoter sequence
   Search Chromatin IP Primers for AP4E1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP4E1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.2   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21.2

AP4E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP4E1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P051200:  view genomic region     (about GC identifiers)

Start:
51,200,869 bp from pter      End:
51,298,097 bp from pter
Size:
97,229 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AP4E1_HUMAN, Q9UPM8 (See protein sequence)
Recommended Name: AP-4 complex subunit epsilon-1  
Size: 1137 amino acids; 127287 Da
Subunit: Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit
AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type
AP4S1)
Secondary accessions: A0AVD6 A1L4A9 A6NNX7 H0YKX4 Q68D31 Q9Y588
Alternative splicing: 2 isoforms:  Q9UPM8-1   Q9UPM8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP4E1: NX_Q9UPM8

Explore proteomics data for AP4E1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AP4E1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001239056.1  NP_031373.2  

    ENSEMBL proteins: 
     ENSP00000453112   ENSP00000452711   ENSP00000452712   ENSP00000261842   ENSP00000452976  
    Reactome Protein details: Q9UPM8

    AP4E1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
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    antibodies-online proteins for AP4E1 (2 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR028269 AP4E1_C
     IPR017109 AP4_complex_esu
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9UPM8

    ProtoNet protein and cluster: Q9UPM8

    1 Blocks protein domain: IPB011710 Protein of unknown function DUF1606

    UniProtKB/Swiss-Prot: AP4E1_HUMAN, Q9UPM8
    Similarity: Belongs to the adaptor complexes large subunit family


    Find genes that share domains with AP4E1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP4E1_HUMAN, Q9UPM8
    Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting
    proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005488binding ----
         
    Find genes that share ontologies with AP4E1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for AP4E1:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ap4e1):
     behavior/neurological  hematopoietic system  homeostasis/metabolism  nervous system 

    Find genes that share phenotypes with AP4E1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP4E1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP4E1
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    miRNA
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    miRTarBase miRNAs that target AP4E1:
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    Selected qRT-PCR Assays for microRNAs that regulate AP4E1 (see all 78):
    hsa-miR-411* hsa-miR-607 hsa-miR-642a hsa-miR-4272 hsa-miR-30d hsa-miR-30a hsa-miR-29a* hsa-miR-556-3p
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP4E1_HUMAN, Q9UPM8: Golgi apparatus, trans-Golgi network. Membrane, coated pit (By similarity). Note=Associated
    with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus2
    nucleus2
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005905coated pit IEA--
    GO:0030117membrane coat IEA--
    GO:0030126COPI vesicle coat ----

    Find genes that share ontologies with AP4E1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP4E1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Lysosome
    Lysosome


    Find genes that share SuperPaths with AP4E1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for AP4E1
        Golgi Associated Vesicle Biogenesis


    1 Kegg Pathway  (Kegg details for AP4E1):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP4E1
    Interactions:

        Search GeneGlobe Interaction Network for AP4E1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP4E1 (Q9UPM83 ENSP000002618424) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP4B1Q9Y6B73, ENSP000002566584I2D: score=2 STRING: ENSP00000256658
    ARF1P840773, ENSP000002721024I2D: score=2 STRING: ENSP00000272102
    AP4M1O001893, ENSP000003526034I2D: score=1 STRING: ENSP00000352603
    AP4S1Q9Y5873, ENSP000002163664I2D: score=1 STRING: ENSP00000216366
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--

    Find genes that share ontologies with AP4E1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for AP4E1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AP4E1 gene (2 alternative transcripts): 
    NM_001252127.1  NM_007347.4  

    Unigene Cluster for AP4E1:

    Adaptor-related protein complex 4, epsilon 1 subunit
    Hs.413366  [show with all ESTs]
    Unigene Representative Sequence: NM_001252127
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561441(uc010ufi.2) ENST00000561393(uc010ufk.2) ENST00000558439(uc010ufj.2)
    ENST00000261842(uc021skz.1 uc001zyx.2 uc010bex.1) ENST00000560508
    ENST00000561004 ENST00000561397
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AP4E1 (see all 78):
    hsa-miR-411* hsa-miR-607 hsa-miR-642a hsa-miR-4272 hsa-miR-30d hsa-miR-30a hsa-miR-29a* hsa-miR-556-3p
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    Additional mRNA sequence: 

    AB030653.1 AF155156.2 AK297290.1 AK308644.1 BC015224.1 BC040044.1 BC040045.1 BC126308.1 
    BC130466.1 BC144025.1 BC144030.1 CR627314.1 CR749604.1 

    4 DOTS entries:

    DT.40265126  DT.100017871  DT.121022386  DT.95079384 

    Selected AceView cDNA sequences (see all 53):

    BM740281 BF172300 AI698568 NM_007347 AA148945 CR627314 AB030653 BF870569 
    BC015224 BQ026255 AI168354 BC040044 BU625231 AI032941 BC040045 AI143020 
    CR749604 BI257424 AF150435 AA634439 AA879439 R84847 BU176006 BU509505 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for AP4E1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b
    SP1:                                                                                                                                          
    SP2:                                                                                                                    -                     


    ECgene alternative splicing isoforms for AP4E1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AP4E1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTAAGAT
    AP4E1 Expression
    About this image

    AP4E1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP4E1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.413366

    UniProtKB/Swiss-Prot: AP4E1_HUMAN, Q9UPM8
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP4E1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap4e11 , 5 adaptor-related protein complex AP-4, epsilon 11, 5 83.82(n)1
    81.62(a)1
      2 (61.76 cM)5
    1080111  NM_175550.31  NP_780759.21 
     1270087175 
    chicken
    (Gallus gallus)
    Aves AP4E11 adaptor-related protein complex 4, epsilon 1 subunit 72.2(n)
    69.96(a)
      415425  XM_413808.4  XP_413808.3 
    lizard
    (Anolis carolinensis)
    Reptilia AP4E16
    adaptor-related protein complex 4, epsilon 1 subun...
    85(a)
    1 ↔ 1
    GL343330.1(665914-680415)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.108312 Xenopus laevis transcribed sequence with weak similarity more 77.31(n)    BG513087.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap4e11 adaptor-related protein complex 4, epsilon 1 subunit 56.99(n)
    55.61(a)
      570467  XM_693950.4  XP_699042.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-1gamma6
    AP-1gamma
    19(a)
    1 → many
    X(9002724-9011777)
    worm
    (Caenorhabditis elegans)
    Secernentea apg-16
    Protein APG-1 (apg-1) mRNA, complete cds
    19(a)
    1 → many
    I(14406028-14417928) WBGene00000158
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL46
    Gamma-adaptin, large subunit of the clathrin-assoc...
    17(a)
    1 → many
    XVI(624469-626967) YPR029C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G317301 AT1G31730 48.92(n)
    41.1(a)
      840060  NM_102908.2  NP_174454.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g09162001 Os01g0916200 49.62(n)
    42.35(a)
      4324331  NM_001051727.1  NP_001045192.1 


    ENSEMBL Gene Tree for AP4E1 (if available)
    TreeFam Gene Tree for AP4E1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP4E1 gene
    AP1G22  AP1G12  
    2 SIMAP similar genes for AP4E1 using alignment to 5 protein entries:     AP4E1_HUMAN (see all proteins):
    AP1G1    AP2A2

    Find genes that share paralogs with AP4E1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AP4E1 (see all 1946)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906666051,2
    --31265569(+) TATTAA/GAACAA 2 -- us2k10--------
    rs1165500591,2
    C,F--31265681(+) GGGCCG/AGTTGA 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1828520511,2
    --31265787(+) TCAGAA/GCGGGC 2 -- us2k10--------
    rs37598061,2
    C,F--31265789(+) AGAGCG/AGGCTG 2 -- us2k18Minor allele frequency- A:0.12NA CSA WA EA 368
    rs1860715861,2
    --31265811(+) GACAGC/TATGCA 2 -- us2k10--------
    rs26147841,2
    C,F,A--31265879(+) agaacG/Cggtgc 2 -- us2k19Minor allele frequency- C:0.50NA WA CSA EA 370
    rs121015351,2
    C,A--31265897(+) aagcaC/Tgttct 2 -- us2k10--------
    rs1448312841,2
    --31265898(+) AGCACC/GTTCTC 2 -- us2k10--------
    rs37598081,2
    C,F--31265921(+) GCCATG/ATGCGC 2 -- us2k12Minor allele frequency- A:0.14WA NA 238
    rs1484554591,2
    --31265991(+) CAGGA-/GTGGTGTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP4E1 (51200869 - 51298097 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for AP4E1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2452631CNV Insertion19546169
    esv271761CNV Insertion20981092
    nsv9264CNV Loss18304495
    esv34532CNV Gain17911159
    nsv904214CNV Gain21882294
    nsv516168CNV Gain19592680
    dgv747e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): AP4E1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP4E1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP4E1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607244   
    OMIM disorders: 613744  
    UniProtKB/Swiss-Prot: AP4E1_HUMAN, Q9UPM8
  • Cerebral palsy, spastic quadriplegic 4 (CPSQ4) [MIM:613744]: A non-progressive disorder of movement
    and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest
    motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation,
    and communication. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for AP4E1:    
    About MalaCards
    spastic paraplegia 51    cerebral palsy    spastic paraplegia 50, autosomal recessive    oligospermia

    1 disease from the University of Copenhagen DISEASES database for AP4E1:
    Cerebral palsy

    Find genes that share disorders with AP4E1           About GenesLikeMe


    Export disorders for AP4E1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP4E1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with AP4E1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a fourth adaptor-related protein complex. (PubMed id 10436028)1, 2, 3 Hirst J.... Robinson M.S. (Mol. Biol. Cell 1999)
    2. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. (PubMed id 20972249)1, 2 Moreno-De-Luca A.... Martin C.L. (J. Med. Genet. 2011)
    3. Adaptor protein complex 4 deficiency causes severe autosomal- recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PubMed id 21620353)1, 3 Abou Jamra R.... Colleaux L. (Am. J. Hum. Genet. 2011)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system. (PubMed id 11409905)1, 2 Takatsu H....Nakayama K. (Biochem. Biophys. Res. Commun. 2001)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    9. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    10. An investigation into the human serum &quot;interactome&quot;. (PubMed id 15174051)1 Zhou M....Conrads T.P. (Electrophoresis 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23431 HGNC: 573 AceView: AP4E1 Ensembl:ENSG00000081014 euGenes: HUgn23431
    ECgene: AP4E1 Kegg: 23431 H-InvDB: AP4E1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP4E1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP4E1 gene:
    Search GeneIP for patents involving AP4E1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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