MCOLN1

GENERAL INFORMATION

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Gene name

MCOLN1

Gene description

Mucolipin 1

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA031763 , CAB032637
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p13.2

Chromosome location (bp)

7522626 - 7534009

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000090674 (version 78.38)

Entrez gene

57192

UniProt

Q9GZU1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9GZU1

Antibodypedia

MCOLN1 antibodies


PROTEIN BROWSER

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ENST00000264079
 
ENST00000599334
 
ENST00000601003
 
 
 
 


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