KCND1 (potassium voltage-gated channel subfamily D member 1)

2009-06-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
KV4.1

Other Information

Locus ID:

NCBI: 3750
MIM: 300281
HGNC: 6237
Ensembl: ENSG00000102057

Variants:

dbSNP: 3750
ClinVar: 3750
TCGA: ENSG00000102057
COSMIC: KCND1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102057ENST00000218176Q9NSA2
ENSG00000102057ENST00000376477Q9NSA2
ENSG00000102057ENST00000419374H7C3V4

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 1 - inactivation of fast Na+ channelsREACTOMER-HSA-5576894

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387723792024Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.0
387723792024Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.0
342342782021Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation.3
342342782021Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation.3
246757632014S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation.9
250032382014Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.10
246757632014S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation.9
250032382014Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.10
194011882009Silencing of Kv4.1 potassium channels inhibits cell proliferation of tumorigenic human mammary epithelial cells.15
194011882009Silencing of Kv4.1 potassium channels inhibits cell proliferation of tumorigenic human mammary epithelial cells.15

Citation

Dessen P

KCND1 (potassium voltage-gated channel subfamily D member 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50971/kcnd1