Gene
rp1l1a
- ID
- ZDB-GENE-120711-1
- Name
- rp1 like 1a
- Symbol
- rp1l1a Nomenclature History
- Previous Names
-
- rp1l1
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Involved in cerebellum development; convergent extension; and retina development in camera-type eye. Predicted to localize to axoneme. Human ortholog(s) of this gene implicated in occult macular dystrophy and retinitis pigmentosa. Orthologous to human RP1L1 (RP1 like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| occult macular dystrophy | Alliance | Occult macular dystrophy | 613587 |
| retinitis pigmentosa 88 | Alliance | Retinitis pigmentosa 88 | 618826 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| eye disease | rp1l1aua5017/ua5017 (AB) | standard conditions | Noel et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Doublecortin domain | Doublecortin domain superfamily |
|---|---|---|---|
|
UniProtKB:A0A8M2BH38
|
2394 | ||
|
UniProtKB:A0A8M9Q226
|
235 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rp1l1a-201
(1)
|
Ensembl | 7,925 nt | ||
| mRNA |
rp1l1a-202
(1)
|
Ensembl | 600 nt | ||
| mRNA |
rp1l1a-203
(1)
|
Ensembl | 2,715 nt |
Interactions and Pathways
No data available
Plasmids
No data available