Gene

mcoln1a

ID

ZDB-GENE-040426-2704

Name

mucolipin TRP cation channel 1a

Symbol

mcoln1a Nomenclature History

Previous Names

mcoln1.1 (1)
mcoln1
zgc:63619 (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to enable NAADP-sensitive calcium-release channel activity. Acts upstream of or within several processes, including neuromast hair cell development; regulation of late endosome to lysosome transport; and retina homeostasis. Located in late endosome and lysosome. Is expressed in several structures, including intermediate cell mass of mesoderm; nervous system; pleuroperitoneal region; yolk; and yolk syncytial layer. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:63619 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With mcoln1a Human Ortholog

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

Associated With mcoln1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
mucolipidosis type IV	mcoln1a^hkz13/hkz13	standard conditions	Jin et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR013122	Polycystin cation channel, PKD1/PKD2
Domain	IPR047316	Mucolipin-1, extracytosolic/lumenal domain
Domain	IPR049134	Mucolipin, extracytosolic domain
Family	IPR039031	Mucolipin