MCOLN1

GENE INFORMATION

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Gene name

MCOLN1 (HGNC Symbol)

Synonyms

ML4, MLIV, MST080, MSTP080, TRPM-L1, TRPML1

Description

mucolipin 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

19 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

7587512 - 7598895

Ensembl

ENSG00000090674 (version 73.37)

Entrez gene

57192

UniProt

Q9GZU1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9GZU1

Antibodypedia

MCOLN1 antibodies
 

PROTEIN VIEW

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MCOLN1-001
 
MCOLN1-006
 
MCOLN1-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MCOLN1-001 ENSP00000264079
ENST00000264079
Q9GZU1
Show all »
Show » Show » 580 65 No 6
MCOLN1-006 ENSP00000469074
ENST00000601003
M0QXD0
Show all »
Show » 200 22.2 No 1
MCOLN1-009 ENSP00000472176
ENST00000599334
Show » 182 20.5 No 2