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

Gene ID: 23431, updated on 4-Jun-2020

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
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

Genomic context

See AP4E1 in Genome Data Viewer
Location:
15q21.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (50908569..51005900)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51200780..51298097)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene HNF4 motif-containing MPRA enhancer 243 Neighboring gene signal peptide peptidase like 2A Neighboring gene ribosomal protein L32 pseudogene 30 Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 3 Neighboring gene MIR4713 host gene Neighboring gene Sharpr-MPRA regulatory region 8572 Neighboring gene TNF alpha induced protein 8 like 3 Neighboring gene Sharpr-MPRA regulatory region 3311

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686L12167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein localization IC
Inferred by Curator
more info
PubMed 
protein targeting IC
Inferred by Curator
more info
PubMed 
receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AP-4 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AP-4 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
endosome lumen TAS
Traceable Author Statement
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

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)

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)

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
    Q9UPM8
    UniProtKB/TrEMBL
    B4DM48
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    50908569..51005900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254264.4XP_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_017022042.2XP_016877531.1  AP-4 complex subunit epsilon-1 isoform X2

  3. XM_006720447.4XP_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

RNA

  1. XR_001751183.1 RNA Sequence

  2. XR_001751184.1 RNA Sequence

    Related
    ENST00000558439.5
  3. XR_001751185.1 RNA Sequence

    Related
    ENST00000561441.5
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