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

    Gene ID: 108011, updated on 9-Dec-2024

    Summary

    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 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; eye; genitourinary system; and hemolymphoid system. 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, Dec 2024]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 3.1), CNS E18 (RPKM 3.0) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Ap4e1 in Genome Data Viewer
    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

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of AP-4 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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_175550.3NP_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:51595
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:10181117
      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_006498553.3XP_006498616.1  AP-4 complex subunit epsilon-1 isoform X7

      Conserved Domains (1) summary
      pfam01602
      Location:51601
      Adaptin_N; Adaptin N terminal region
    2. XM_006498548.4XP_006498611.1  AP-4 complex subunit epsilon-1 isoform X1

      Conserved Domains (2) summary
      pfam01602
      Location:51601
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:10271127
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    3. XM_006498550.4XP_006498613.1  AP-4 complex subunit epsilon-1 isoform X3

      Conserved Domains (2) summary
      pfam01602
      Location:2517
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9431043
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    4. XM_030246493.2XP_030102353.1  AP-4 complex subunit epsilon-1 isoform X2

      Conserved Domains (2) summary
      pfam01602
      Location:2526
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9521052
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    5. XM_030246498.2XP_030102358.1  AP-4 complex subunit epsilon-1 isoform X5

      Conserved Domains (2) summary
      pfam01602
      Location:16299
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:725825
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    6. XM_036157338.1XP_036013231.1  AP-4 complex subunit epsilon-1 isoform X6

      Conserved Domains (2) summary
      pfam01602
      Location:2205
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:631731
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    7. XM_036157340.1XP_036013233.1  AP-4 complex subunit epsilon-1 isoform X6

      Conserved Domains (2) summary
      pfam01602
      Location:2205
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:631731
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    8. XM_036157323.1XP_036013216.1  AP-4 complex subunit epsilon-1 isoform X2

      Conserved Domains (2) summary
      pfam01602
      Location:2526
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9521052
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    9. XM_036157331.1XP_036013224.1  AP-4 complex subunit epsilon-1 isoform X3

      Conserved Domains (2) summary
      pfam01602
      Location:2517
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9431043
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    10. XM_036157335.1XP_036013228.1  AP-4 complex subunit epsilon-1 isoform X4

      Conserved Domains (2) summary
      pfam01602
      Location:1442
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:868968
      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