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

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 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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AV087807 (e-PCR)
- UniSTS:165202

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

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)

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

126850600..126911734

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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