TPCN1 (two pore segment channel 1)

2016-10-01  

Identity

HGNC
TPCN1
LOCATION
12q24.13
LOCUSID
53373
ALIAS
TPC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 53373
MIM: 609666
HGNC: 18182
Ensembl: ENSG00000186815

Variants:

dbSNP: 53373
ClinVar: 53373
TCGA: ENSG00000186815
COSMIC: TPCN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186815ENST00000335509Q9ULQ1
ENSG00000186815ENST00000392569B7Z3R2
ENSG00000186815ENST00000541517Q9ULQ1
ENSG00000186815ENST00000546781H0YIK4
ENSG00000186815ENST00000547275F8VVY9
ENSG00000186815ENST00000547955H0YHX1
ENSG00000186815ENST00000548465F8VR74
ENSG00000186815ENST00000549279F8W0K7
ENSG00000186815ENST00000550785Q9ULQ1
ENSG00000186815ENST00000550873F8W1G4
ENSG00000186815ENST00000551096F8VZZ6
ENSG00000186815ENST00000551099F8W0K7
ENSG00000186815ENST00000552542F8W1L6
ENSG00000186815ENST00000552642F8VS97
ENSG00000186815ENST00000552897F8VV93
ENSG00000186815ENST00000552985F8W0P9

Expression (GTEx)

0
50
100
150
200
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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 2
appendix
spleen
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
196206322009Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling.182
257224122015Ebola virus. Two-pore channels control Ebola virus host cell entry and are drug targets for disease treatment.138
247769282014The voltage-gated sodium channel TPC1 confers endolysosomal excitability.50
261526962015Function and dysfunction of two-pore channels.49
251571412014The Two-pore channel (TPC) interactome unmasks isoform-specific roles for TPCs in endolysosomal morphology and cell pigmentation.44
225000182012Membrane potential regulates nicotinic acid adenine dinucleotide phosphate (NAADP) dependence of the pH- and Ca2+-sensitive organellar two-pore channel TPC1.34
248471152014Reconstituted human TPC1 is a proton-permeable ion channel and is activated by NAADP or Ca2+.33
308604812019Structural mechanisms of phospholipid activation of the human TPC2 channel.11
282521052017The human two-pore channel 1 is modulated by cytosolic and luminal calcium.8
291292032017NAADP-evoked Ca2+ signals through two-pore channel-1 require arginine residues in the first S4-S5 linker.8

Citation

Dessen P

TPCN1 (two pore segment channel 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56106/tpcn1