MCOLN3 (mucolipin TRP cation channel 3)

2016-10-01  

Identity

HGNC
MCOLN3
LOCATION
1p22.3
LOCUSID
55283
ALIAS
TRP-ML3,TRPML3

Other Information

Locus ID:

NCBI: 55283
MIM: 607400
HGNC: 13358
Ensembl: ENSG00000055732

Variants:

dbSNP: 55283
ClinVar: 55283
TCGA: ENSG00000055732
COSMIC: MCOLN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055732ENST00000341115Q8TDD5
ENSG00000055732ENST00000370587B1ANB7
ENSG00000055732ENST00000370589Q8TDD5
ENSG00000055732ENST00000490600S4R386

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
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

References

Pubmed IDYearTitleCitations
166066122006Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.70
195227582009The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy.60
181625482008The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.59
179621952007Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.57
183693182008A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.44
194970482009The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway.35
198858402010Functional multimerization of mucolipin channel proteins.24
207363102010Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.24
192995092009Life and death of sensory hair cells expressing constitutively active TRPML3.11
203785472010Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.11

Citation

Dessen P

MCOLN3 (mucolipin TRP cation channel 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56004/mcoln3