KCNC1 (potassium voltage-gated channel subfamily C member 1)

2014-11-01  

Identity

HGNC
KCNC1
LOCATION
11p15.1
LOCUSID
3746
ALIAS
EPM7,KV3.1,KV4,NGK2

Other Information

Locus ID:

NCBI: 3746
MIM: 176258
HGNC: 6233
Ensembl: ENSG00000129159

Variants:

dbSNP: 3746
ClinVar: 3746
TCGA: ENSG00000129159
COSMIC: KCNC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129159ENST00000265969P48547
ENSG00000129159ENST00000379472P48547
ENSG00000129159ENST00000638366A0A1W2PNN0
ENSG00000129159ENST00000638825A0A1W2PPN9
ENSG00000129159ENST00000639325A0A1W2PRL7
ENSG00000129159ENST00000639495A0A1W2PPT0
ENSG00000129159ENST00000640318A0A1W2PNZ3
ENSG00000129159ENST00000640461A0A1W2PP60
ENSG00000129159ENST00000640909A0A1W2PPX0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
254012982015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.64
14320461992Expression of the mRNAs for the Kv3.1 potassium channel gene in the adult and developing rat brain.57
211068372010Kinesin I transports tetramerized Kv3 channels through the axon initial segment via direct binding.32
120915632002Differential subcellular localization of the two alternatively spliced isoforms of the Kv3.1 potassium channel subunit in brain.31
236289872014Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.24
266739412015Kv3.1 uses a timely resurgent K(+) current to secure action potential repolarization.14
219129652012Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
235764352013Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels.9

Citation

Dessen P

KCNC1 (potassium voltage-gated channel subfamily C member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64766/kcnc1