Ap4e1 Gene Summary [Mouse]
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, Apr 2025]
Details
| Type | Retained Intron |
| Official Symbol | Ap4e1 |
| Official Name | adaptor-related protein complex AP-4, epsilon 1 [Source:MGI Symbol;Acc:MGI:1336993] |
| Ensembl ID | ENSMUSG00000001998 |
| Bio databases IDs | |
| Aliases | adaptor-related protein complex AP-4, epsilon 1 |
| Synonyms | 2310033A20RIK, 9930028M04Rik, Adaptor protein 4 ε, adaptor related protein complex 4 subunit epsilon 1, adaptor related protein complex 4 subunit ε 1, adaptor-related protein complex AP-4, epsilon 1, adaptor-related protein complex AP-4, ε 1, AP-4 epsilon, AP-4 ε, CPSQ4, RGD1562199, SPG51, STUT1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ap4e1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Coatomer beta subunit appendage platform
- protein binding
- Adaptin N terminal region
Pathways
Biological processes and signaling networks where the Ap4e1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive nonsyndromic mental retardation
- spastic paraplegia
- AP4-deficiency syndrome
- autosomal recessive spastic paraplegia type 51
- familial persistent stuttering type 1
- developmental disorder
- congenital disorder of glycosylation type 1g
phenotypes
- abnormal auditory brainstem response
- abnormal behavior
- abnormal bone structure
- abnormal coat appearance
- abnormal facial morphology
- abnormal femur morphology
- abnormal heart left ventricle morphology
- abnormal heart morphology
- abnormal inspiratory capacity
- abnormal kidney morphology
- abnormal lens morphology
- abnormal retinal outer nuclear layer morphology
- abnormal sleep behavior
- abnormal spine curvature
- abnormal spleen morphology
- abnormal testis morphology
- abnormal vertebral arch morphology
- abnormal vitreous body morphology
- decreased CD4-negative CD25-positive NK T cell number
- decreased Ly6C-positive immature NK cell number
- decreased bone mineral content
- decreased cardiac output
- decreased cardiac stroke volume
- decreased circulating alanine transaminase level
- decreased circulating amylase level
- decreased circulating aspartate transaminase level
- decreased circulating bilirubin level
- decreased circulating calcium level
- decreased circulating chloride level
- decreased circulating glucose level
- decreased circulating insulin level
- decreased circulating serum albumin level
- decreased circulating total protein level
- decreased circulating triglyceride level
- decreased exploration in new environment
- decreased grip strength
- decreased heart rate
- decreased lung elastance
- decreased mean corpuscular hemoglobin
- decreased mean corpuscular volume
- decreased respiratory quotient
- decreased thigmotaxis
- decreased total body fat amount
- decreased total retina thickness
- decreased vertical activity
- depletion
- displacement and deformity
- enlarged heart
- enlarged lymph nodes
- enlarged spleen
- hyperactivity
- hypoactivity
- hypoplasia
- impaired glucose tolerance
- increased B-1a cell number
- increased Ly6C-positive immature NK cell number
- increased Ly6C-positive mature NK cell number
- increased body length
- increased bone mineral content
- increased bone mineral density
- increased cardiac muscle contractility
- increased circulating alkaline phosphatase level
- increased circulating phosphate level
- increased exploration in new environment
- increased fasting circulating glucose level
- increased fluid intake
- increased heart weight
- increased hematocrit
- increased hemoglobin content
- increased kidney weight
- increased lean body mass
- increased lung compliance
- increased mean corpuscular volume
- increased prepulse inhibition
- increased startle reflex
- kyphosis
- limb grasping
- lordosis
- preweaning lethality incomplete penetrance
- process of degenerative change
- prolonged RR interval
- short tibia
- small testis
- abnormal CD4-negative CD25-positive NK T cell number
- abnormal RR interval
- abnormal adipose tissue amount
- abnormal blood urea nitrogen level
- abnormal body weight
- abnormal bone mineralization
- abnormal cardiac output
- abnormal cardiac stroke volume
- abnormal circulating alkaline phosphatase level
- abnormal circulating chloride level
- abnormal exploration in a new environment
- abnormal grip strength
- abnormal heart rate
- abnormal lean body mass
- abnormal locomotor activation
- abnormal lung compliance
- abnormal lung elastance
- abnormal lung tissue damping
- abnormal prepulse inhibition
- abnormal respiratory quotient
- abnormal seminal vesicle morphology
- abnormal startle reflex
- abnormal tibia morphology
- abnormal total retina thickness
- abnormal vertebrae morphology
- anemia
- decreased corpus callosum size
- decreased hemoglobin content
- enlarged lateral ventricles
role in cell
- accumulation in
- processing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endosomes
- trans Golgi network
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ap4e1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting
- vesicle-mediated transport
- protein localization
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- endosome lumen
- AP-4 adaptor complex
- trans-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- protein binding