MCOLN1 (mucolipin TRP cation channel 1)

2013-06-01  

Identity

HGNC
MCOLN1
LOCATION
19p13.2
LOCUSID
57192
ALIAS
MG-2,ML1,ML4,MLIV,MST080,MSTP080,TRP-ML1,TRPM-L1,TRPML1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57192
MIM: 605248
HGNC: 13356
Ensembl: ENSG00000090674

Variants:

dbSNP: 57192
ClinVar: 57192
TCGA: ENSG00000090674
COSMIC: MCOLN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090674ENST00000264079Q9GZU1
ENSG00000090674ENST00000599334M0R1X7
ENSG00000090674ENST00000601003M0QXD0

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446199OverdoseDiseaseClinicalAnnotationassociatedPD31362332
PA452618opioidsChemicalClinicalAnnotationassociatedPD31362332

References

Pubmed IDYearTitleCitations
218894212011Transcriptional activation of lysosomal exocytosis promotes cellular clearance.213
187949012008The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.194
224158222012Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release.163
273576492016MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.103
150707442004Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.100
163612562006TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity.96
169783932006Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.73
166066122006Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.70
162579722005TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage.64
227337592012Phosphoinositide isoforms determine compartment-specific ion channel activity.58

Citation

Dessen P

MCOLN1 (mucolipin TRP cation channel 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53390/mcoln1