KCNC1

Chr 11p15.1

potassium voltage-gated channel subfamily C member 1

Aliases:: Kv3.1
MANE:: ENST00000265969.8

OMIM: 176258 ↗NCBI: 3746 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KCNC1 · P48547

v62025-08-01

Predicted Aligned Error matrix for KCNC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.6/ 100

Confident

511 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)32%
Low(50–70)4%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Progressive myoclonic epilepsy
0.77
multiple sclerosis
0.59
Lambert-Eaton myasthenic syndrome
0.56
myasthenia gravis
0.56
congenital myasthenic syndrome
0.49
Congenital myasthenic syndromes
0.49
hereditary disease
0.47
progressive myoclonus epilepsy
0.46
Muscle weakness
0.46
neurodegenerative disease
0.41

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Voltage-gated potassium channel KCNC1

Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298, PubMed:35840580). The mechanism is time-dependent and inactivation is slow (By similarity). Plays an important role in the rapid repolarization of fast-firing brain neurons (By similarity). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons (By similarity)