KCNA1 (potassium voltage-gated channel subfamily A member 1)

2008-07-01  

Identity

HGNC
KCNA1
LOCATION
12p13.32
LOCUSID
3736
ALIAS
AEMK,EA1,HBK1,HUK1,KV1.1,MBK1,MK1,RBK1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3736
MIM: 176260
HGNC: 6218
Ensembl: ENSG00000111262

Variants:

dbSNP: 3736
ClinVar: 3736
TCGA: ENSG00000111262
COSMIC: KCNA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111262ENST00000382545Q09470
ENSG00000111262ENST00000639306A0A1W2PRI2
ENSG00000111262ENST00000639680A0A1W2PQM4

Expression (GTEx)

0
10
20
30
40
50
60
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
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
208234172011Medulloblastoma comprises four distinct molecular variants.407
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
221585112011Neuregulin 1 regulates excitability of fast-spiking neurons through Kv1.1 and acts in epilepsy.61
184748432008Clinical spectrum of voltage-gated potassium channel autoimmunity.60
243723102014High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.31
247825442014Moving gating charges through the gating pore in a Kv channel voltage sensor.30
158379282005The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.29
193077292009A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.27
211065012010Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.24
192050712009A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.22

Citation

Dessen P

KCNA1 (potassium voltage-gated channel subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50218/kcna1