KCNH1 potassium voltage-gated channel subfamily H member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNH1provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily H member 1provided by HGNC
Primary source: HGNC:HGNC:6250
See related: Ensembl:ENSG00000143473 MIM:603305; AllianceGenome:HGNC:6250
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EAG; EAG1; ZLS1; hEAG; TMBTS; h-eag; hEAG1; Kv10.1; K(V)10.1
Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 4.3), adrenal (RPKM 0.4) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (210678314..211134148, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (209920145..210379828, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (210851656..211307490, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Title: Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.
Title: Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Title: Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Title: Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Hysteretic hERG channel gating current recorded at physiological temperature.
Title: Hysteretic hERG channel gating current recorded at physiological temperature.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.
Title: Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.
Molecular Dynamics-Derived Pharmacophore Model Explaining the Nonselective Aspect of KV10.1 Pore Blockers.
Title: Molecular Dynamics-Derived Pharmacophore Model Explaining the Nonselective Aspect of K(V)10.1 Pore Blockers.
Insights into the Molecular Inhibition of the Oncogenic Channel KV10.1 by Globular Toxins.
Title: Insights into the Molecular Inhibition of the Oncogenic Channel K(V)10.1 by Globular Toxins.
Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.
Title: Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.
High-throughput phenotyping of heteromeric human ether-a-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants.
Title: High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Temple-Baraitser syndrome MedGen: C2678486 OMIM: 611816 GeneReviews: Not available	not available
Zimmermann-Laband syndrome 1 MedGen: C4551773 OMIM: 135500 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-06-28) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-06-28) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144939 (e-PCR)
- UniSTS:174340

D1S414 (e-PCR), detects polymorphism
- UniSTS:44298

RH104006 (e-PCR)
- UniSTS:98331

REN9820 (e-PCR)
- UniSTS:334620

SHGC-149312 (e-PCR)
- UniSTS:176924

AL034158 (e-PCR)
- UniSTS:93986

AL010063 (e-PCR)
- UniSTS:51288

AL009671 (e-PCR)
- UniSTS:54153

SHGC-78765 (e-PCR)
- UniSTS:95884

RH120086 (e-PCR)
- UniSTS:138917

KCNH1_338 (e-PCR)
- UniSTS:277417

D1S2812 (e-PCR), detects polymorphism
- UniSTS:2756

D1S414 (e-PCR), detects polymorphism
- UniSTS:47082

SHGC-81779 (e-PCR)
- UniSTS:103932

AL009751 (e-PCR)
- UniSTS:14845

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
NOT enables cyclic nucleotide binding	ISS Inferred from Sequence or Structural Similarity more info
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast fusion	TAS Traceable Author Statement more info	PubMed
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: voltage-gated delayed rectifier potassium channel KCNH1; potassium voltage-gated channel subfamily H member 1

Names: EAG channel 1; ether-a-go-go 1; ether-a-go-go potassium channel 1; ether-a-go-go, Drosophila, homolog of; potassium channel, voltage gated eag related subfamily H, member 1; potassium voltage-gated channel, subfamily H (eag-related), member 1; voltage-gated potassium channel subunit Kv10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029777.2 RefSeqGene

Range

4968..460802

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002238.4 → NP_002229.1 voltage-gated delayed rectifier potassium channel KCNH1 isoform 2

See identical proteins and their annotated locations for NP_002229.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as eag, lacks an alternate in-frame segment, as compared to variant 1. It encodes isoform 2, which is shorter but has the same N- and C-termini as isoform 1.

Source sequence(s)

AC092017, AC096636, AF078741, AJ001366

Consensus CDS

CCDS31015.1

UniProtKB/TrEMBL

A0A977NV57

Related

ENSP00000492697.1, ENST00000639952.1

Conserved Domains (3) summary

PLN03192
Location:220 → 620

PLN03192; Voltage-dependent potassium channel; Provisional

PRK11753
Location:581 → 685

PRK11753; cAMP-activated global transcriptional regulator CRP

pfam13426
Location:41 → 135

PAS_9; PAS domain
NM_172362.3 → NP_758872.1 voltage-gated delayed rectifier potassium channel KCNH1 isoform 1

See identical proteins and their annotated locations for NP_758872.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as eagB, encodes the longer isoform (1).

Source sequence(s)

AC092017, AC096636, AF078742, AJ001366

Consensus CDS

CCDS1496.1

UniProtKB/Swiss-Prot

B1AQ26, O76035, O95259, Q14CL3

UniProtKB/TrEMBL

A0A977NV57

Related

ENSP00000271751.4, ENST00000271751.10

Conserved Domains (3) summary

PLN03192
Location:220 → 647

PLN03192; Voltage-dependent potassium channel; Provisional

PRK11753
Location:608 → 712

PRK11753; cAMP-activated global transcriptional regulator CRP

pfam13426
Location:41 → 135

PAS_9; PAS domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

210678314..211134148 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419823.1 → XP_047275779.1 potassium voltage-gated channel subfamily H member 1 isoform X1

UniProtKB/TrEMBL

A0A1X7SBS6

Related

ENSP00000355974.5, ENST00000367007.5
XM_047419829.1 → XP_047275785.1 potassium voltage-gated channel subfamily H member 1 isoform X3

UniProtKB/TrEMBL

A0A1W2PPA2
XM_017001246.2 → XP_016856735.1 potassium voltage-gated channel subfamily H member 1 isoform X2

UniProtKB/TrEMBL

A0A1W2PPA2

Conserved Domains (3) summary

COG0664
Location:183 → 328

Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]

cd00038
Location:189 → 299

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

pfam07885
Location:58 → 112

Ion_trans_2; Ion channel

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

209920145..210379828 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336469.1 → XP_054192444.1 potassium voltage-gated channel subfamily H member 1 isoform X1

UniProtKB/TrEMBL

A0A1X7SBS6
XM_054336471.1 → XP_054192446.1 potassium voltage-gated channel subfamily H member 1 isoform X3

UniProtKB/TrEMBL

A0A1W2PPA2
XM_054336470.1 → XP_054192445.1 potassium voltage-gated channel subfamily H member 1 isoform X2

UniProtKB/TrEMBL

A0A1W2PPA2