Ap4e1 MGI Mouse Gene Detail - MGI:1336993 - adaptor-related protein complex AP-4, epsilon 1

Symbol

Ap4e1
Name

adaptor-related protein complex AP-4, epsilon 1
Synonyms

2310033A20Rik

Feature Type

protein coding gene
IDs

MGI:1336993
NCBI Gene: 108011
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:126850637-126909829 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.76 cM
Mapping Data

3 experiments

SNPs within 2kb

1636 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1336993	protein coding gene	Chr2:126850600-126911734 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026447	protein coding gene	Chr2:130253546-130320046 (+)
A/J	MGP_AJ_G0026411	protein coding gene	Chr2:124987239-125046422 (+)
AKR/J	MGP_AKRJ_G0026386	protein coding gene	Chr2:128549249-128611763 (+)
BALB/cJ	MGP_BALBcJ_G0026423	protein coding gene	Chr2:125253573-125321158 (+)
C3H/HeJ	MGP_C3HHeJ_G0026166	protein coding gene	Chr2:129065118-129126432 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026868	protein coding gene	Chr2:134371716-134431262 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024245	protein coding gene	Chr2:119690543-119749157 (+)
CAST/EiJ	MGP_CASTEiJ_G0025627	protein coding gene	Chr2:129272477-129335097 (+)
CBA/J	MGP_CBAJ_G0026146	protein coding gene	Chr2:139325030-139392792 (+)
DBA/2J	MGP_DBA2J_G0026280	protein coding gene	Chr2:124385361-124444483 (+)
FVB/NJ	MGP_FVBNJ_G0026244	protein coding gene	Chr2:123045086-123107944 (+)
LP/J	MGP_LPJ_G0026385	protein coding gene	Chr2:130511810-130572445 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026264	protein coding gene	Chr2:143376640-143443745 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026923	protein coding gene	Chr2:128578779-128642345 (+)
PWK/PhJ	MGP_PWKPhJ_G0025363	protein coding gene	Chr2:123931591-123991010 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025165	protein coding gene	Chr2:127648478-127707352 (+)
WSB/EiJ	MGP_WSBEiJ_G0025701	protein coding gene	Chr2:129472097-129532975 (+)

Human Ortholog

AP4E1, adaptor related protein complex 4 subunit epsilon 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AP4E1, adaptor related protein complex 4 subunit epsilon 1
Synonyms

CPSQ4, SPG51, STUT1
Links

HGNC:573

NCBI Gene ID: 23431

neXtProt AC: NX_Q9UPM8

UniProt: Q9UPM8
Chr Location

15q21.2; chr15:50907492-51005895 (+) GRCh38

MGI Vertebrate Homology

Ap4e1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AP4E1
Protein SuperFamily

AP4_complex_epsilon
Gene Tree

Ap4e1

Diseases

2 with human AP4E1 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 51 IDs hereditary spastic paraplegia 51 DOID:0110803 OMIM:613744 ORDO:280763
				stuttering IDs stuttering DOID:0060243 ICD10CM:F80.81 MESH:D013342 NCI:C35043 OMIM:184450 OMIM:609261 OMIM:614655 OMIM:614668 UMLS_CUI:C0038131 UMLS_CUI:C0038506 UMLS_CUI:C0454542 UMLS_CUI:C0751527 UMLS_CUI:C0751528 UMLS_CUI:C0751529 UMLS_CUI:C3489627

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

67 phenotypes from 5 alleles in 13 genetic backgrounds
29 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

15
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

5
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Ap4e1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

59 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia.

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All GO Annotations

11
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1658
Tissues

99
cDNA Data

11
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ap4e1

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All Sequences

76
RefSeq

25
UniProt

7
CCDS

CCDS38231.1

Ensembl

ENSMUSG00000001998 (Evidence)
NCBI Gene

108011

			Length	Strain/Species	Flank
genomic	ENSMUSG00000001998	Ensembl Gene Model \| MGI Sequence Detail	59193	C57BL/6J	± kb
transcript	ENSMUST00000002063	Ensembl \| MGI Sequence Detail	4600	Not Applicable
polypeptide	ENSMUSP00000002063	Ensembl \| MGI Sequence Detail	1122	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000004112 AP-4 complex subunit epsilon-1

(term hierarchy)
InterPro Domains

IPR050840 Adaptor Complexes Large Subunit

IPR017109 Adaptor protein complex AP-4, epsilon subunit

IPR028269 AP-4 complex subunit epsilon-1, C-terminal

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
GlyGen

Q80V94 1 site, 1 O-linked glycan (1 site)

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All nucleic 13

cDNA 11

Primer pair 2

Microarray probesets 2

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MGI:1916807, MGI:2139249, MGI:2442701

Summaries

All 57

Developmental Gene Expression 3

Gene Ontology 6

Phenotypes 29
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345948 Caracci MO, et al., The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia. Prog Neurobiol. 2024 Jan 26;234:102575

TSS for Ap4e1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19975	Chr2:126850631-126850676 (+)	17 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24