Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hcn1provided by MGI
Official Full Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1provided by MGI
Primary source: MGI:MGI:1096392
See related: Ensembl:ENSMUSG00000021730 AllianceGenome:MGI:1096392
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: HAC2; Bcng1; C630013B14Rik
Summary: Enables cAMP binding activity; identical protein binding activity; and monoatomic cation channel activity. Involved in cellular response to cAMP; potassium ion transmembrane transport; and regulation of postsynaptic membrane potential. Acts upstream of or within several processes, including apical protein localization; general adaptation syndrome, behavioral process; and neuronal action potential. Located in axon; dendrite; and plasma membrane. Is active in glutamatergic synapse; postsynaptic membrane; and presynaptic active zone membrane. Is expressed in brain and heart. Used to study sick sinus syndrome. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 24 and generalized epilepsy with febrile seizures plus 10. Orthologous to human HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 5.8), bladder adult (RPKM 5.1) and 6 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 13 D2.3; 13 66.34 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (117738856..118117564)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (117602320..117981028)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
Title: Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
Glucocorticoid-glucocorticoid receptor-HCN1 channels reduce neuronal excitability in dorsal hippocampal CA1 neurons.
Title: Glucocorticoid-glucocorticoid receptor-HCN1 channels reduce neuronal excitability in dorsal hippocampal CA1 neurons.
Altered EEG power spectrum, but not sleep-wake architecture, in HCN1 knockout mice.
Title: Altered EEG power spectrum, but not sleep-wake architecture, in HCN1 knockout mice.
Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 epileptic encephalopathy.
Title: Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 epileptic encephalopathy.
Cone-Driven Retinal Responses Are Shaped by Rod But Not Cone HCN1.
Title: Cone-Driven Retinal Responses Are Shaped by Rod But Not Cone HCN1.
HCN1 channels: A versatile tool for signal processing by primary sensory neurons.
Title: HCN1 channels: A versatile tool for signal processing by primary sensory neurons.
HCN channels in the mammalian cochlea: Expression pattern, subcellular location, and age-dependent changes.
Title: HCN channels in the mammalian cochlea: Expression pattern, subcellular location, and age-dependent changes.
Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice.
Title: Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice.
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
Title: Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
The ionic mechanism driving increased excitability involves alterations of the expression levels of HCN and KCNQ channel genes leading to a complex dynamic of H-current and M-current activation. Moreover, there is a negative correlation between the disease onset and disease progression, which correlates with a decrease in the expression level of HCN and KCNQ channels.
Title: Dynamic interplay between H-current and M-current controls motoneuron hyperexcitability in amyotrophic lateral sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (92)

Variation

Go to the top of the page Help

Alleles

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

Chemically induced (ENU) (1)
Endonuclease-mediated (6) 1 citation
Targeted (4) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

07.MMHAP71FLC1.seq (e-PCR)
- UniSTS:122901

AF028737 (e-PCR)
- UniSTS:180605

HCN1__6701 (e-PCR)
- UniSTS:463606

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cAMP binding	IDA Inferred from Direct Assay more info	PubMed
enables cAMP binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential	EXP Inferred from Experiment more info	PubMed
enables intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables intracellularly cAMP-activated cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly cAMP-activated cation channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables voltage-gated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated sodium channel activity	IEA Inferred from Electronic Annotation more info
enables voltage-gated sodium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cAMP	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cAMP	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within general adaptation syndrome, behavioral process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of membrane hyperpolarization	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of membrane depolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane hyperpolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynaptic membrane potential	EXP Inferred from Experiment more info	PubMed
involved_in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to calcium ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retinal cone cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of HCN channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of HCN channel complex	ISO Inferred from Sequence Orthology more info
part_of HCN channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in apical dendrite	ISO Inferred from Sequence Orthology more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendrite membrane	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic active zone membrane	IDA Inferred from Direct Assay more info	PubMed
located_in somatodendritic compartment	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1

Names: BCNG-1; HAC-2; brain cyclic nucleotide-gated channel 1; hyperpolarization-activated cation channel 2; hyperpolarization-activated, cyclic nucleotide-gated K+ 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_010408.3 → NP_034538.2 potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1

See identical proteins and their annotated locations for NP_034538.2

Status: VALIDATED

Source sequence(s)

AC113036, AF028737, AK014722, AK158322

Consensus CDS

CCDS26793.1

UniProtKB/Swiss-Prot

O54899, O88704, Q9D613

Related

ENSMUSP00000006991.8, ENSMUST00000006991.9

Conserved Domains (4) summary

COG0664
Location:458 → 593

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

cd00038
Location:464 → 572

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 ...

pfam00520
Location:149 → 394

Ion_trans; Ion transport protein

pfam08412
Location:87 → 129

Ion_trans_N; Ion transport protein N-terminal