Cell atlas - MCOLN1 - The Human Protein Atlas

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MCOLN1

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Plasma membrane

Human cell
	Cytosol
	Plasma Membrane

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GENERAL INFORMATION
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
Summary	Localized to the plasma membrane & cytosol.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Plasma membrane (supported), Cytosol (approved)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA031763
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the plasma membrane & cytosol.

Main location

Plasma membrane (supported), Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA031763	A-431	Plasma membrane	Intensity
	HPA031763	A-431	Cytosol	Intensity
	HPA031763	U-2 OS	Plasma membrane
	HPA031763	U-2 OS	Cytosol
	HPA031763	U-251 MG	Plasma membrane
	HPA031763	U-251 MG	Cytosol

GENE INFORMATION
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 83.38)
Entrez gene	57192
UniProt	Q9GZU1 (UniProt - Evidence at protein level)
neXtProt	NX_Q9GZU1
Antibodypedia	MCOLN1 antibodies

PROTEIN BROWSER

MCOLN1-001	MCOLN1-006	MCOLN1-009

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MCOLN1-001 ENSP00000264079 ENST00000264079	Q9GZU1 [Direct mapping] Mucolipin-1 Show all	Transporters Transporter channels and pores Voltage-gated ion channels Transient Receptor Potential Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 6TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005261 [cation channel activity] GO:0005737 [cytoplasm] GO:0005765 [lysosomal membrane] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006812 [cation transport] GO:0006879 [cellular iron ion homeostasis] GO:0010008 [endosome membrane] GO:0016021 [integral component of membrane] GO:0031902 [late endosome membrane] GO:0033572 [transferrin transport] GO:0034220 [ion transmembrane transport] GO:0043235 [receptor complex] GO:0051209 [release of sequestered calcium ion into cytosol] GO:0055085 [transmembrane transport] GO:0070588 [calcium ion transmembrane transport] GO:0072345 [NAADP-sensitive calcium-release channel activity] Show all	580 aa 65 kDa	No	6
MCOLN1-006 ENSP00000469074 ENST00000601003	M0QXD0 [Direct mapping] Mucolipin-1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all		200 aa 22.2 kDa	No	1
MCOLN1-009 ENSP00000472176 ENST00000599334	M0R1X7 [Direct mapping] Mucolipin-1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	182 aa 20.5 kDa	No	2

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.