KCNH1

Chr 1q32.2

potassium voltage-gated channel subfamily H member 1

Aliases:: Kv10.1, eag, h-eag, eag1, hEAG
MANE:: ENST00000271751.10

OMIM: 603305 ↗NCBI: 3756 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KCNH1 · O95259

v62025-08-01

Predicted Aligned Error matrix for KCNH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.9/ 100

Confident

989 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)25%
Low(50–70)9%
Very low(< 50)26%

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, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Radial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Temple-Baraitser syndrome
0.79
Zimmermann-Laband syndrome 1
0.77
Zimmermann-Laband syndrome
0.62
multiple sclerosis
0.59
Lambert-Eaton myasthenic syndrome
0.56
myasthenia gravis
0.56
Intellectual disability
0.55
congenital myasthenic syndrome
0.49
Congenital myasthenic syndromes
0.49
KCNH1 associated disorder
0.48

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

Protein function (UniProt)

Voltage-gated delayed rectifier potassium channel KCNH1

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate (PubMed:10880439, PubMed:11943152, PubMed:22732247, PubMed:25420144, PubMed:25556795, PubMed:25915598, PubMed:27005320, PubMed:27325704, PubMed:27618660, PubMed:30149017, PubMed:9738473). The activation kinetics depend on the prepulse potential and external divalent cation concentration (PubMed:11943152). With negative prepulses, the current activation is delayed and slowed down several fold, whereas more positive prepulses speed up activation (PubMed:11943152). The time course of activation is biphasic with a fast and a slowly activating current component (PubMed:11943152). Activates at more positive membrane potentials and exhibit a steeper activation curve (PubMed:11943152). Channel properties are modulated by subunit assembly (PubMed:11943152). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642)