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
- Acts upstream of or within convergent extension; nervous system development; and retina development in camera-type eye. Predicted to be located in cytoplasm; cytoskeleton; and photoreceptor outer segment. Predicted to be active in axoneme. Used to study eye disease. Human ortholog(s) of this gene implicated in occult macular dystrophy and retinitis pigmentosa 88. 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