Gene
mcoln1b
- ID
- ZDB-GENE-130514-1
- Name
- mucolipin TRP cation channel 1b
- Symbol
- mcoln1b Nomenclature History
- Previous Names
-
- mcoln1.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have NAADP-sensitive calcium-release channel activity. Involved in autophagy; neuromast hair cell development; and retina homeostasis. Localizes to late endosome and lysosome. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Is expressed in several structures, including heart; nervous system; neural rod; otic vesicle; and pleuroperitoneal region. Orthologous to human MCOLN1 (mucolipin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Lisch epithelial corneal dystrophy | Alliance | Lisch epithelial corneal dystrophy | 620763 |
| mucolipidosis type IV | Alliance | Mucolipidosis IV | 252650 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mucolipin | Mucolipin, extracytosolic domain | Polycystin cation channel, PKD1/PKD2 |
|---|---|---|---|---|
|
UniProtKB:E7FBN6
|
565 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
mcoln1b-201
(1)
|
Havana | 1838 nt |
Interactions and Pathways
No data available
Plasmids
No data available