KCNH1 (hEAG1) Gene: Potassium Voltage-Gated Channel, Subfamily H Member 1
KCNH1 encodes the voltage-gated potassium channel Kv10.1 (EAG1), implicated in cancer progression and neurodevelopmental disorders.
Gene Information Card
| Symbol | KCNH1 |
|---|---|
| Full Name | Potassium voltage-gated channel subfamily H member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 3756 ncbi.nlm.nih.gov/gene/3756 |
| Ensembl ID | ENSG00000143473 |
| UniProt ID | Q95259 |
| OMIM ID | 603305 |
| HGNC ID | 6245 |
| Aliases | EAG1, hEAG1, Kv10.1, MGC142269 |
Description
KCNH1 encodes the voltage-gated potassium channel Kv10.1 (also known as EAG1). This channel is primarily expressed in the brain and in various cancer cell lines. It plays a role in cell cycle regulation and neuronal excitability. Mutations in KCNH1 are associated with Temple-Baraitser syndrome and Zimmermann-Laband syndrome. Overexpression of KCNH1 is observed in several cancers, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Temple-Baraitser syndrome | Gain-of-function mutations in KCNH1 lead to increased potassium conductance, affecting neuronal development. | ClinVar, OMIM |
| Zimmermann-Laband syndrome | Gain-of-function mutations in KCNH1 cause abnormal neuronal and craniofacial development. | ClinVar, OMIM |
| Cancers (e.g., breast, colorectal, cervical) | Overexpression of KCNH1 promotes cell proliferation and tumor progression; oncogenic role. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High (e.g., ~30-40 nTPM) | High expression in cerebral cortex, cerebellum, and other brain regions. |
| Testis | Moderate (~10-20 nTPM) | Moderate expression in testis. |
| Adrenal gland | Low (~5-10 nTPM) | Low expression. |
| Other tissues | Low or not detected | Minimal expression in most peripheral tissues. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Endogenous expression; used in neuronal studies. |
| MCF-7 (breast cancer) | High | Overexpressed; contributes to proliferation. |
| HeLa (cervical cancer) | High | Overexpressed; promotes cell cycle progression. |
| HEK293 (embryonic kidney) | Low | Often used for heterologous expression after transfection. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg327His | Missense | Rare | Gain-of-function; associated with Temple-Baraitser syndrome. |
| p.Arg357Trp | Missense | Rare | Gain-of-function; associated with Zimmermann-Laband syndrome. |
| p.Gly378Asp | Missense | Rare | Gain-of-function; reported in Temple-Baraitser syndrome. |
| Various somatic mutations | Missense/truncating | Low frequency in cancers | Potential oncogenic effects; found in COSMIC. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and not well characterized; may lead to reduced potassium conductance, but clinical significance is unclear.
Gain of Function (GOF)
Gain-of-function mutations increase channel activity, leading to neuronal hyperexcitability and developmental syndromes.
Dominant Negative (DN)
Dominant-negative effects have not been clearly demonstrated for KCNH1 mutations.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • regulation of membrane potential | • cell proliferation |
| • neuronal action potential | • ion channel complex |
Pathways
• Potassium channel signaling
• Ion transport
• Cell cycle regulation
• MAPK signaling (via oncogenic roles)
Protein Summary
The KCNH1 protein (Kv10.1) is a voltage-gated potassium channel that forms tetramers in the plasma membrane. It mediates outward potassium currents, regulating membrane potential and cell excitability. It is involved in cell cycle progression and is overexpressed in many tumors, where it promotes proliferation and migration. Structurally, it contains six transmembrane domains, a pore loop, and a cyclic nucleotide-binding domain in the C-terminus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNH1 Knockout HEK293 Cell Line | EDJ-KQ5030 | Human | 3756 | Details Get a Quote |
| KCNH1 Knockout HeLa Cell Line | EDJ-KQ27942 | Human | 3756 | Details Get a Quote |
| KCNH1 Knockout A-549 Cell Line | EDJ-KQ26718 | Human | 3756 | Details Get a Quote |
| KCNH1 Knockout HCT 116 Cell Line | EDJ-KQ70672 | Human | 3756 | Details Get a Quote |
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