Elp1 Gene Summary [Mouse]
Predicted to enable ATP binding activity; protein kinase activity; and tRNA binding activity. Involved in tRNA wobble uridine modification. Located in cytoplasm. Is expressed in several structures, including brain; genitourinary system; liver; lung; and spleen. Used to study Riley-Day syndrome and hemophagocytic lymphohistiocytosis. Human ortholog(s) of this gene implicated in Riley-Day syndrome; asthma; kyphosis; medulloblastoma; and scoliosis. Orthologous to human ELP1 (elongator acetyltransferase complex subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Elp1 |
| Official Name | elongator complex protein 1 [Source:MGI Symbol;Acc:MGI:1914544] |
| Ensembl ID | ENSMUSG00000028431 |
| Bio databases IDs | |
| Aliases | elongator complex protein 1 |
| Synonyms | 3110040G09Rik, 6030413P05, DYS, elongator acetyltransferase complex subunit 1, elongator complex protein 1, FD, IKAP, IKBKAP, IKI3, Ikkap1, LOC102555189, TOT1 |
| 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 Elp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP binding
- protein binding
- IKI3 family
Pathways
Biological processes and signaling networks where the Elp1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- 4-1BB Signaling in T Lymphocytes
- Activation of IRF by Cytosolic Pattern Recognition Receptors
- Acute Phase Response Signaling
- Angiopoietin Signaling
- Apoptosis Signaling
- April Mediated Signaling
- B Cell Activating Factor Signaling
- B Cell Receptor Signaling
- CD27 Signaling in Lymphocytes
- CD28 Signaling in T Helper Cells
- CD40 Signaling
- Death Receptor Signaling
- Dendritic Cell Maturation
- G-Protein Coupled Receptor Signaling
- Glucocorticoid Receptor Signaling
- Gα12/13 Signaling
- Hepatic Cholestasis
- IL-1 Signaling
- IL-10 Signaling
- IL-12 Signaling and Production in Macrophages
- IL-6 Signaling
- Induction of Apoptosis by HIV1
- PPAR Signaling
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- familial dysautonomia
- brain cancer
- central nervous system cancer
- head and neck cancer
- head and neck neoplasia
- pericardial effusion
- medulloblastoma
- pediatric cancer
- growth failure
phenotypes
- preweaning lethality complete penetrance
- abnormal brain development
- abnormal cardiac outflow tract development
- abnormal cardinal vein morphology
- abnormal dorsal aorta morphology
- abnormal embryonic erythropoiesis
- abnormal embryonic tissue morphology
- abnormal forebrain development
- abnormal heart development
- abnormal heart looping
- abnormal telencephalon development
- abnormal vascular development
- abnormal vitelline vasculature morphology
- absent atrioventricular cushions
- absent heartbeat
- absent lamina terminalis
- absent limb buds
- absent optic vesicle
- absent pharyngeal arches
- absent second pharyngeal arch
- absent visceral yolk sac blood islands
- decreased embryo size
- distended pericardium
- embryonic growth arrest
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- incomplete embryo turning
- incomplete rostral neuropore closure
- pallor
- pericardial effusion
- small placenta
role in cell
- apoptosis
- cell death
- number
- fragmentation
- fragmentation in
- transmembrane potential
- generation
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
- Nucleus
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Elp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridine biosynthesis.
- tRNA wobble uridine modification
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- Elongator holoenzyme complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- tRNA binding