ZFIN is now using GRCz12tu for Genomic Data
Gene
eipr1
- ID
- ZDB-GENE-041010-167
- Name
- EARP complex and GARP complex interacting protein 1
- Symbol
- eipr1 Nomenclature History
- Previous Names
-
- tssc1
- zgc:101720
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in endocytic recycling and protein ubiquitination. Predicted to be located in Golgi apparatus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections. Orthologous to human EIPR1 (EARP complex and GARP complex interacting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101720 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ghosh et al., 2025
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections | Alliance | Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections | 621622 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019775 | WD40 repeat, conserved site |
| Domain | IPR059104 | EIPR1-like, beta-propeller |
| Family | IPR040323 | EARP and GARP complex-interacting protein 1 |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
| Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | EARP and GARP complex-interacting protein 1 | EIPR1-like, beta-propeller | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5XJP1 | InterPro | 387 | ||||||
| UniProtKB:A7YYD3 | InterPro | 387 | ||||||
| UniProtKB:F1R8B7 | InterPro | 391 | ||||||
| UniProtKB:A0AB13AAD1 | InterPro | 387 | ||||||
| UniProtKB:A0AC58HMS9 | InterPro | 391 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers