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    Ap4e1 adaptor-related protein complex AP-4, epsilon 1 [ Mus musculus (house mouse) ]

    Gene ID: 108011, updated on 4-May-2024

    Summary

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    Official Symbol
    Ap4e1provided by MGI
    Official Full Name
    adaptor-related protein complex AP-4, epsilon 1provided by MGI
    Primary source
    MGI:MGI:1336993
    See related
    Ensembl:ENSMUSG00000001998 AllianceGenome:MGI:1336993
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310033A20Rik; 9930028M04Rik
    Summary
    Predicted to enable cargo adaptor activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within intracellular protein transport and vesicle-mediated transport. Predicted to be located in trans-Golgi network. Predicted to be part of AP-4 adaptor complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and retina. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 51 and stuttering. Orthologous to human AP4E1 (adaptor related protein complex 4 subunit epsilon 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 3.1), CNS E18 (RPKM 3.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 F1; 2 61.76 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (126850600..126911734)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (127008679..127069814)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene signal peptide peptidase like 2A Neighboring gene predicted gene, 46761 Neighboring gene STARR-seq mESC enhancer starr_05613 Neighboring gene STARR-seq mESC enhancer starr_05614 Neighboring gene STARR-seq mESC enhancer starr_05617 Neighboring gene predicted gene, 52496 Neighboring gene STARR-seq mESC enhancer starr_05618 Neighboring gene STARR-positive B cell enhancer ABC_E9531 Neighboring gene STARR-seq mESC enhancer starr_05619 Neighboring gene STARR-positive B cell enhancer ABC_E3399 Neighboring gene biliverdin reductase A Neighboring gene predicted gene, 31414 Neighboring gene predicted gene, 39922

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Synaptic vesicle proteins and ATG9A self-organize in distinct vesicle phases within synapsin condensates. Park D, et al. Nat Commun, 2023 Jan 28. PMID 36709207, Free PMC Article
    2. AP-4-mediated axonal transport controls endocannabinoid production in neurons. Davies AK, et al. Nat Commun, 2022 Feb 25. PMID 35217685, Free PMC Article
    3. Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. De Pace R, et al. PLoS Genet, 2018 Apr. PMID 29698489, Free PMC Article
    4. AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation. Mattera R, et al. Proc Natl Acad Sci U S A, 2017 Dec 12. PMID 29180427, Free PMC Article
    5. Comparative sequence analysis of a single-gene conserved segment in mouse and human. Thomas JW, et al. Mamm Genome, 2003 Oct. PMID 14694903

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
      Title: The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
    2. Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome.
      Title: Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome.
    3. AP-4 epsilon KO mice exhibit a range of neurological phenotypes, including hindlimb clasping, decreased motor coordination and weak grip strength. In addition, AP-4 epsilon KO mice display a thin corpus callosum and axonal swellings in various areas of the brain and spinal cord.
      Title: Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (3) 
    • Endonuclease-mediated (4) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cargo adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within intracellular protein transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-4 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of AP-4 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of AP-4 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of membrane coat IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AP-4 complex subunit epsilon-1
    Names
    AP-4 adapter complex subunit epsilon
    AP-4 adaptor complex subunit epsilon
    adapter-related protein complex 4 subunit epsilon-1
    adaptor-related protein complex 4 subunit epsilon-1
    epsilon subunit of AP-4
    epsilon-adaptin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_175550.3 → NP_780759.2  AP-4 complex subunit epsilon-1

      See identical proteins and their annotated locations for NP_780759.2

      Status: VALIDATED

      Source sequence(s)
      AK036944, AK144636, AL928590, BY037321
      Consensus CDS
      CCDS38231.1
      UniProtKB/Swiss-Prot
      A2ASB4, Q80V94
      Related
      ENSMUSP00000002063.9, ENSMUST00000002063.15
      Conserved Domains (2) summary
      pfam01602
      Location:51 → 595
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:1018 → 1117
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      126850600..126911734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498553.3 → XP_006498616.1  AP-4 complex subunit epsilon-1 isoform X7

      Conserved Domains (1) summary
      pfam01602
      Location:51 → 601
      Adaptin_N; Adaptin N terminal region

    2. XM_006498548.4 → XP_006498611.1  AP-4 complex subunit epsilon-1 isoform X1

      Conserved Domains (2) summary
      pfam01602
      Location:51 → 601
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:1027 → 1127
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    3. XM_006498550.4 → XP_006498613.1  AP-4 complex subunit epsilon-1 isoform X3

      Conserved Domains (2) summary
      pfam01602
      Location:2 → 517
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:943 → 1043
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    4. XM_030246493.2 → XP_030102353.1  AP-4 complex subunit epsilon-1 isoform X2

      Conserved Domains (2) summary
      pfam01602
      Location:2 → 526
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:952 → 1052
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    5. XM_030246498.2 → XP_030102358.1  AP-4 complex subunit epsilon-1 isoform X5

      Conserved Domains (2) summary
      pfam01602
      Location:16 → 299
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:725 → 825
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    6. XM_036157338.1 → XP_036013231.1  AP-4 complex subunit epsilon-1 isoform X6

      Conserved Domains (2) summary
      pfam01602
      Location:2 → 205
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:631 → 731
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    7. XM_036157340.1 → XP_036013233.1  AP-4 complex subunit epsilon-1 isoform X6

      Conserved Domains (2) summary
      pfam01602
      Location:2 → 205
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:631 → 731
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    8. XM_036157323.1 → XP_036013216.1  AP-4 complex subunit epsilon-1 isoform X2

      Conserved Domains (2) summary
      pfam01602
      Location:2 → 526
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:952 → 1052
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    9. XM_036157331.1 → XP_036013224.1  AP-4 complex subunit epsilon-1 isoform X3

      Conserved Domains (2) summary
      pfam01602
      Location:2 → 517
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:943 → 1043
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    10. XM_036157335.1 → XP_036013228.1  AP-4 complex subunit epsilon-1 isoform X4

      Conserved Domains (2) summary
      pfam01602
      Location:1 → 442
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:868 → 968
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform

    RNA

    1. XR_001780227.2 RNA Sequence

    2. XR_001780230.2 RNA Sequence

    3. XR_374385.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80V94.3 GenPept UniProtKB/Swiss-Prot:Q80V94

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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