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
- Involved in enteric nervous system development. Predicted to localize to Elongator holoenzyme complex; cytoplasm; and nucleus. Human ortholog(s) of this gene implicated in Riley-Day syndrome; asthma; and scoliosis. Is expressed in intestinal epithelium. Orthologous to human ELP1 (elongator complex protein 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