MCOLN1

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

Description

Mucolipin 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Golgi apparatus, Vesicles

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

19 (7522624 - 7534009)

Ensembl ID

ENSG00000090674  (ver. 103.38)

Orthologs

Mouse Mcoln1: ENSMUSG00000004567

UniProt

Q9GZU1

neXtProt

NX_Q9GZU1

Human splice variants
Mouse splice variants

Protein structure