Gene
mcoln1a
- ID
- ZDB-GENE-040426-2704
- Name
- mucolipin TRP cation channel 1a
- Symbol
- mcoln1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have NAADP-sensitive calcium-release channel activity. Involved in several processes, including neuromast hair cell development; regulation of late endosome to lysosome transport; and retina homeostasis. Localizes to late endosome and lysosome. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Is expressed in several structures, including intermediate cell mass of mesoderm; nervous system; pleuroperitoneal region; yolk; and yolk syncytial layer. 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
-
- MGC:63619 (1 image)
Wild Type Expression Summary
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| mucolipidosis type IV | mcoln1ahkz13/hkz13 | standard conditions | Jin et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mucolipin | Mucolipin-1, extracytosolic/lumenal domain | Mucolipin, extracytosolic domain | Polycystin cation channel, PKD1/PKD2 |
|---|---|---|---|---|---|
|
UniProtKB:A2BGV1
|
581 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mcoln1a-201
(1)
|
Ensembl | 5,620 nt |
Interactions and Pathways
No data available
Plasmids
No data available