KCNN1 (potassium calcium-activated channel subfamily N member 1)

2014-08-01  

Identity

HGNC
KCNN1
LOCATION
19p13.11
LOCUSID
3780
ALIAS
KCa2.1,SK1,SKCA1,hSK1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3780
MIM: 602982
HGNC: 6290
Ensembl: ENSG00000105642

Variants:

dbSNP: 3780
ClinVar: 3780
TCGA: ENSG00000105642
COSMIC: KCNN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105642ENST00000222249Q92952
ENSG00000105642ENST00000609922V9GYV2
ENSG00000105642ENST00000615435A0A087X2E7

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
Insulin secretionKEGGhsa04911
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Ca2+ activated K+ channelsREACTOMER-HSA-1296052

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10832corticosteroidsChemicalVariantAnnotationassociatedPD30697902
PA443450AsthmaDiseaseVariantAnnotationassociatedPD30697902

References

Pubmed IDYearTitleCitations
380186352024A single coiled-coil domain mutation in hIKCa channel subunits disrupts preferential formation of heteromeric hSK1:hIKCa channels.1
380186352024A single coiled-coil domain mutation in hIKCa channel subunits disrupts preferential formation of heteromeric hSK1:hIKCa channels.1
378316362023KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.0
378316362023KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.0
340433002021Targeting K(ca)3.1 Channels in Cancer.5
341113262021Differential regulation of K(Ca) 2.1 (KCNN1) K(+) channel expression by histone deacetylases in atrial fibrillation with concomitant heart failure.8
340433002021Targeting K(ca)3.1 Channels in Cancer.5
341113262021Differential regulation of K(Ca) 2.1 (KCNN1) K(+) channel expression by histone deacetylases in atrial fibrillation with concomitant heart failure.8
310485492019Preferred Formation of Heteromeric Channels between Coexpressed SK1 and IKCa Channel Subunits Provides a Unique Pharmacological Profile of Ca(2+)-Activated Potassium Channels.9
310485492019Preferred Formation of Heteromeric Channels between Coexpressed SK1 and IKCa Channel Subunits Provides a Unique Pharmacological Profile of Ca(2+)-Activated Potassium Channels.9
297379742018Ca2+/Calmodulin-Dependent Protein Kinase II (CaMKII) Increases Small-Conductance Ca2+-Activated K+ Current in Patients with Chronic Atrial Fibrillation.11
297379742018Ca2+/Calmodulin-Dependent Protein Kinase II (CaMKII) Increases Small-Conductance Ca2+-Activated K+ Current in Patients with Chronic Atrial Fibrillation.11
244345222014Subcellular expression and neuroprotective effects of SK channels in human dopaminergic neurons.29
244345222014Subcellular expression and neuroprotective effects of SK channels in human dopaminergic neurons.29
221549082012Decreased expression of small-conductance Ca2+-activated K+ channels SK1 and SK2 in human chronic atrial fibrillation.40

Citation

Dessen P

KCNN1 (potassium calcium-activated channel subfamily N member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54397/cancer-prone-explorer/gene-fusions/humanGenome