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    AP4E1 adaptor related protein complex 4 subunit epsilon 1 [ Homo sapiens (human) ]

    Gene ID: 23431, updated on 10-Dec-2024

    Summary

    Official Symbol
    AP4E1provided by HGNC
    Official Full Name
    adaptor related protein complex 4 subunit epsilon 1provided by HGNC
    Primary source
    HGNC:HGNC:573
    See related
    Ensembl:ENSG00000081014 MIM:607244; AllianceGenome:HGNC:573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPSQ4; SPG51; STUT1
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 2.9), testis (RPKM 2.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AP4E1 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50907492..51005895)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (48714133..48813558)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51200880..51298092)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51104171-51104690 Neighboring gene ribosomal protein L32 pseudogene 30 Neighboring gene uncharacterized LOC124903490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9399 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51174366-51174535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:51200473-51201214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51201215-51201956 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51258822-51259047 Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51296421-51296666 Neighboring gene MPRA-validated peak2335 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr15:51336200-51336731 Neighboring gene MIR4713 host gene Neighboring gene TNF alpha induced protein 8 like 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51368968-51369524 Neighboring gene Sharpr-MPRA regulatory region 8572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9403 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51386125-51386855 Neighboring gene uncharacterized LOC124903491 Neighboring gene uncharacterized LOC124903492

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • DKFZp686L12167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo adaptor activity  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    part_of AP-4 adaptor complex  
    part_of AP-4 adaptor complex PubMed 
    part_of AP-4 adaptor complex PubMed 
    located_in endosome lumen  
    located_in trans-Golgi network PubMed 
    located_in trans-Golgi network membrane  

    General protein information

    Preferred Names
    AP-4 complex subunit epsilon-1
    Names
    AP-4 adaptor complex subunit epsilon
    adaptor related protein complex 4 epsilon 1 subunit
    adaptor-related protein complex AP-4 epsilon
    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.

    Genomic

    1. NG_031875.2 RefSeqGene

      Range
      5012..102224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_732

    mRNA and Protein(s)

    1. NM_001252127.2NP_001239056.1  AP-4 complex subunit epsilon-1 isoform 2

      See identical proteins and their annotated locations for NP_001239056.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI143020, AK297290, AK308644, BC130466, CR627314, CR749604
      Consensus CDS
      CCDS58362.1
      UniProtKB/Swiss-Prot
      Q9UPM8
      UniProtKB/TrEMBL
      B4DM48
      Related
      ENSP00000452976.1, ENST00000560508.1
      Conserved Domains (2) summary
      pfam01602
      Location:3521
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9581057
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    2. NM_007347.5NP_031373.2  AP-4 complex subunit epsilon-1 isoform 1

      See identical proteins and their annotated locations for NP_031373.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI143020, AK308644, BC130466, CR627314, CR749604
      Consensus CDS
      CCDS32240.1
      UniProtKB/Swiss-Prot
      A0AVD6, A1L4A9, A6NNX7, H0YKX4, Q68D31, Q9UPM8, Q9Y588
      Related
      ENSP00000261842.5, ENST00000261842.10
      Conserved Domains (2) summary
      pfam14807
      Location:10331132
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
      cl26317
      Location:52596
      Adaptin_N; Adaptin N terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      50907492..51005895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254264.5XP_005254321.1  AP-4 complex subunit epsilon-1 isoform X1

      See identical proteins and their annotated locations for XP_005254321.1

      UniProtKB/Swiss-Prot
      Q9UPM8
      Conserved Domains (2) summary
      pfam01602
      Location:3521
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9581057
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    2. XM_047432325.1XP_047288281.1  AP-4 complex subunit epsilon-1 isoform X1

    3. XM_006720447.5XP_006720510.1  AP-4 complex subunit epsilon-1 isoform X1

      See identical proteins and their annotated locations for XP_006720510.1

      UniProtKB/Swiss-Prot
      Q9UPM8
      Conserved Domains (2) summary
      pfam01602
      Location:3521
      Adaptin_N; Adaptin N terminal region
      pfam14807
      Location:9581057
      AP4E_app_platf; Adaptin AP4 complex epsilon appendage platform
    4. XM_047432324.1XP_047288280.1  AP-4 complex subunit epsilon-1 isoform X1

    5. XM_047432326.1XP_047288282.1  AP-4 complex subunit epsilon-1 isoform X2

    6. XM_047432327.1XP_047288283.1  AP-4 complex subunit epsilon-1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      48714133..48813558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377642.1XP_054233617.1  AP-4 complex subunit epsilon-1 isoform X1

    2. XM_054377643.1XP_054233618.1  AP-4 complex subunit epsilon-1 isoform X1

    3. XM_054377641.1XP_054233616.1  AP-4 complex subunit epsilon-1 isoform X1

    4. XM_054377640.1XP_054233615.1  AP-4 complex subunit epsilon-1 isoform X1

    5. XM_054377644.1XP_054233619.1  AP-4 complex subunit epsilon-1 isoform X2

    6. XM_054377645.1XP_054233620.1  AP-4 complex subunit epsilon-1 isoform X3

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