Gene
elp1
- ID
- ZDB-GENE-071116-7
- Name
- elongator acetyltransferase complex subunit 1
- Symbol
- elp1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable tRNA binding activity. Acts upstream of or within enteric nervous system development. Predicted to be located in cytoplasm and nucleus. Predicted to be part of elongator holoenzyme complex. Predicted to be active in cytosol. Is expressed in intestinal epithelium. Human ortholog(s) of this gene implicated in Riley-Day syndrome; asthma; medulloblastoma; and scoliosis. Orthologous to human ELP1 (elongator acetyltransferase complex subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Cheng et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Cheng et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| medulloblastoma | Alliance | {Medulloblastoma} | 155255 |
| Riley-Day syndrome | Alliance | Dysautonomia, familial | 223900 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Elongator complex protein 1 | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A0A0R4IJ07
|
1311 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-ikbkap | polyclonal | IgG | Rabbit |
|
Santa Cruz Biotechnology, Inc.
|
2 |
Plasmids
No data available