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 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. 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 glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 620763
Mucolipidosis IV 252650
Associated With mcoln1a Via Experimental Models
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
Domain Details Per Protein
Protein Length Mucolipin Mucolipin-1, extracytosolic/lumenal domain Mucolipin, extracytosolic domain Polycystin cation channel, PKD1/PKD2
UniProtKB:A2BGV1 581
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA mcoln1a-201 (1) Havana 5620 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations