Kcnh1 potassium voltage-gated channel, subfamily H (eag-related), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnh1provided by MGI
Official Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 1provided by MGI
Primary source: MGI:MGI:1341721
See related: Ensembl:ENSMUSG00000058248 AllianceGenome:MGI:1341721
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EAG1; M-eag; mEAG1; Kv10.1
Summary: Enables delayed rectifier potassium channel activity and voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Involved in potassium ion transmembrane transport; regulation of presynaptic cytosolic calcium ion concentration; and regulation of synaptic vesicle exocytosis. Located in plasma membrane. Is active in parallel fiber to Purkinje cell synapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and integumental system. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma. Orthologous to human KCNH1 (potassium voltage-gated channel subfamily H member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cortex adult (RPKM 6.6), frontal lobe adult (RPKM 5.5) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H6; 1 97.33 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (191871759..192192467)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (192189144..192510159)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

n this report, we present two independent screening campaigns in which we wanted to identify small molecules that bind to either the intracellular cytoplasmic amino terminal Per-Arnt-Sim (PAS) domain from the human EAG-related gene (ERG) channel or the amino or carboxy terminal globular domains from the mouse EAG1 channel, affecting their interaction.
Title: Screening for Non-Pore-Binding Modulators of EAG K+ Channels.
KV10.1 localizes to the centrosome and the primary cilium and promotes ciliary disassembly. Interference with KV10.1 ciliary localization abolishes not only the effects on ciliary disassembly, but also KV10.1-induced tumor progression in vivo Conversely.
Title: Cyclic expression of the voltage-gated potassium channel KV10.1 promotes disassembly of the primary cilium.
Expression of Kv10.1 driven by phosphorylated Rb/E2F1 contributes to G2/M progression of cancer and non-transformed cells.
Title: Periodic expression of Kv10.1 driven by pRb/E2F1 contributes to G2/M progression of cancer and non-transformed cells.
KV 10.1 opposes activity-dependent increase in calcium influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse
Title: KV 10.1 opposes activity-dependent increase in Ca²⁺ influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse.
deletion of Kv10.1 does not show a marked phenotype is a prerequisite for utilizing Kv10.1 blocking and/or reduction techniques, such as siRNA, to treat cancer.
Title: Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.
The flavonoids identified here potentiated EAG1 channels by binding to the CNBHD.
Title: Flavonoid regulation of EAG1 channels.
2 A resolution crystal structure of the eag domain-CNBHD complex of the mouse EAG1 (also known as KCNH1) channel
Title: The structural mechanism of KCNH-channel regulation by the eag domain.
Biochemical evidence was provided that suggests that there is also an unliganded conformation where the C-terminus of the domain peels away from its bound position. A role was shown for the cyclic nucleotide-homology domain in channel gating.
Title: Structural, biochemical, and functional characterization of the cyclic nucleotide binding homology domain from the mouse EAG1 potassium channel.
X-ray diffraction of EAG channel data were collected to 2.2 A resolution and the crystal belonged to the hexagonal space group P3(1)21
Title: Crystallization and preliminary X-ray crystallographic characterization of a cyclic nucleotide-binding homology domain from the mouse EAG potassium channel.
K(V)10.1 channels at the nuclear envelope might participate in the homeostasis of nuclear K(+), or indirectly interact with heterochromatin, both factors known to affect gene expression
Title: Functional K(v)10.1 channels localize to the inner nuclear membrane.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Kcnh1 (e-PCR), detects polymorphism
- UniSTS:143657

NoName (e-PCR)
- UniSTS:234315

D1Mit510 (e-PCR), detects polymorphism
- UniSTS:128881

U04294 (e-PCR)
- UniSTS:158908

U04294 (e-PCR)
- UniSTS:125644

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
NOT enables cyclic nucleotide binding	IDA Inferred from Direct Assay more info	PubMed
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 delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
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 transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of presynaptic cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of presynaptic cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in startle response	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axolemma	ISO Inferred from Sequence Orthology more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear inner membrane	ISO Inferred from Sequence Orthology more info
is_active_in parallel fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in parallel fiber to Purkinje cell synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
part_of potassium channel complex	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

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; ether-a-go-go potassium channel 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.

mRNA and Protein(s)

NM_001038607.3 → NP_001033696.1 voltage-gated delayed rectifier potassium channel KCNH1 isoform 2

See identical proteins and their annotated locations for NP_001033696.1

Status: VALIDATED

Source sequence(s)

AC105325, AC109240, AC158791

Consensus CDS

CCDS35826.1

UniProtKB/TrEMBL

Q32MR7, Q3UHC9

Related

ENSMUSP00000106468.2, ENSMUST00000110844.3

Conserved Domains (6) summary

COG0664
Location:548 → 693

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

cd00038
Location:554 → 664

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 ...

cd00130
Location:39 → 133

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam00520
Location:235 → 483

Ion_trans; Ion transport protein

pfam07885
Location:423 → 477

Ion_trans_2; Ion channel

pfam13426
Location:39 → 135

PAS_9; PAS domain
NM_010600.4 → NP_034730.1 voltage-gated delayed rectifier potassium channel KCNH1 isoform 1

See identical proteins and their annotated locations for NP_034730.1

Status: VALIDATED

Source sequence(s)

AC105325, AC109240, AC158791

Consensus CDS

CCDS15627.1

UniProtKB/Swiss-Prot

Q32MR6, Q3USQ9, Q60603

UniProtKB/TrEMBL

A0A1L1M1J8

Related

ENSMUSP00000077563.6, ENSMUST00000078470.12

Conserved Domains (6) summary

COG0664
Location:575 → 720

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

cd00038
Location:581 → 691

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 ...

cd00130
Location:39 → 133

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam00520
Location:235 → 510

Ion_trans; Ion transport protein

pfam07885
Location:450 → 504

Ion_trans_2; Ion channel

pfam13426
Location:39 → 135

PAS_9; PAS domain

RNA

NR_185158.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC105325, AC109240, AC158791

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

191871759..192192467

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497229.2 → XP_006497292.1 potassium voltage-gated channel subfamily H member 1 isoform X1

UniProtKB/Swiss-Prot

Q32MR6, Q3USQ9, Q60603

Conserved Domains (3) summary

PLN03192
Location:160 → 587

PLN03192; Voltage-dependent potassium channel; Provisional

PRK11753
Location:548 → 652

PRK11753; cAMP-activated global transcriptional regulator CRP

pfam13426
Location:14 → 75

PAS_9; PAS domain
XM_036162273.1 → XP_036018166.1 potassium voltage-gated channel subfamily H member 1 isoform X2

UniProtKB/Swiss-Prot

Q32MR6, Q3USQ9, Q60603

Conserved Domains (3) summary

smart00086
Location:3 → 34

PAC; Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)

PLN03192
Location:119 → 546

PLN03192; Voltage-dependent potassium channel; Provisional

PRK11753
Location:507 → 611

PRK11753; cAMP-activated global transcriptional regulator CRP