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Aliases for HCN1 Gene

Aliases for HCN1 Gene

  • Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1 2 3
  • Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium Channel 1 2 3
  • Brain Cyclic Nucleotide-Gated Channel 1 3 4
  • BCNG-1 3 4
  • BCNG1 3 4
  • Potassium/Sodium Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 1 3
  • Brain Cyclic Nucleotide Gated Channel 1 3
  • EIEE24 3
  • HAC-2 3

External Ids for HCN1 Gene

Previous HGNC Symbols for HCN1 Gene

  • BCNG1

Previous GeneCards Identifiers for HCN1 Gene

  • GC05U990009
  • GC05M046438
  • GC05M045262
  • GC05M045307
  • GC05M045297

Summaries for HCN1 Gene

Entrez Gene Summary for HCN1 Gene

  • The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]

GeneCards Summary for HCN1 Gene

HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1) is a Protein Coding gene. Diseases associated with HCN1 include epileptic encephalopathy, early infantile, 24 and ohtahara syndrome. Among its related pathways are Transmission across Chemical Synapses and Sweet Taste Signaling. GO annotations related to this gene include voltage-gated potassium channel activity and cAMP binding. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for HCN1 Gene

  • Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli.

Gene Wiki entry for HCN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HCN1 Gene

Genomics for HCN1 Gene

Regulatory Elements for HCN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HCN1 Gene

Start:
45,254,950 bp from pter
End:
45,696,151 bp from pter
Size:
441,202 bases
Orientation:
Minus strand

Genomic View for HCN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HCN1 Gene

Proteins for HCN1 Gene

  • Protein details for HCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60741-HCN1_HUMAN
    Recommended name:
    Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
    Protein Accession:
    O60741
    Secondary Accessions:

    Protein attributes for HCN1 Gene

    Size:
    890 amino acids
    Molecular mass:
    98796 Da
    Quaternary structure:
    • Homotetramer. Heterotetramer with HCN2. The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits. Interacts with KCNE2. Interacts with the SH3 domain of CSK (By similarity).
    SequenceCaution:
    • Sequence=AAC39759.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for HCN1 Gene

Proteomics data for HCN1 Gene at MOPED

Post-translational modifications for HCN1 Gene

  • Glycosylation at Asn338
  • Modification sites at PhosphoSitePlus

Other Protein References for HCN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HCN1 Gene

Domains for HCN1 Gene

Gene Families for HCN1 Gene

HGNC:
  • CNG :Voltage-gated ion channels / Cyclic nucleotide-regulated channels
IUPHAR :

Suggested Antigen Peptide Sequences for HCN1 Gene

Graphical View of Domain Structure for InterPro Entry

O60741

UniProtKB/Swiss-Prot:

HCN1_HUMAN :
  • O60741
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position
  • Contains 1 cyclic nucleotide-binding domain.
Family:
  • Belongs to the potassium channel HCN family.
genes like me logo Genes that share domains with HCN1: view

Function for HCN1 Gene

Molecular function for HCN1 Gene

GENATLAS Biochemistry: hyperpolarization-activated and cyclic nucleotide gated potassium channel 1,containing a CCG repeat in 5utr,related to Eag and H-erg,expressed in brain,potentially modulating excitability in the brain and responding to regulation by cyclic nucleotides,playing a critical role in shaping the autonomous activity of single neurons and the periodicity of network oscillations
UniProtKB/Swiss-Prot EnzymeRegulation: Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding promotes tetramerization and formation of an active channel. Compared to other family members, cAMP has less stimulatory effect on HCN1 because part of the molecules already contain bound cAMP and form homotetramers when cAMP levels are low. Inhibited by Cs(1+), zatebradine, capsazepine and ZD7288.
UniProtKB/Swiss-Prot Function: Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli.

Gene Ontology (GO) - Molecular Function for HCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005222 intracellular cAMP activated cation channel activity ISS --
GO:0005248 voltage-gated sodium channel activity IMP 22748890
GO:0005249 voltage-gated potassium channel activity ISS --
GO:0005267 potassium channel activity NAS 9405696
genes like me logo Genes that share ontologies with HCN1: view
genes like me logo Genes that share phenotypes with HCN1: view

Animal Models for HCN1 Gene

MGI Knock Outs for HCN1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HCN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for HCN1 Gene

Localization for HCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HCN1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HCN1 Gene COMPARTMENTS Subcellular localization image for HCN1 gene
Compartment Confidence
plasma membrane 4
cytosol 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 9405696
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with HCN1: view

Pathways for HCN1 Gene

genes like me logo Genes that share pathways with HCN1: view

Pathways by source for HCN1 Gene

1 Qiagen pathway for HCN1 Gene
3 Reactome pathways for HCN1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for HCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006813 potassium ion transport NAS 9405696
GO:0007268 synaptic transmission TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0035725 sodium ion transmembrane transport IMP 22748890
genes like me logo Genes that share ontologies with HCN1: view

Compounds for HCN1 Gene

(2) HMDB Compounds for HCN1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
Sodium
  • Sodium
7440-23-5

(5) IUPHAR Ligand for HCN1 Gene

Ligand Type Action Affinity Pubmed IDs
cilobradine Pore Blocker Antagonist 6
zatebradine Pore Blocker Antagonist 5.7
ivabradine Pore Blocker Antagonist 5.7
ZD7288 Pore Blocker Antagonist 4.7
Cs+ Pore Blocker Antagonist 3.8
genes like me logo Genes that share compounds with HCN1: view

Transcripts for HCN1 Gene

mRNA/cDNA for HCN1 Gene

(4) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HCN1 Gene

Hyperpolarization activated cyclic nucleotide-gated potassium channel 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HCN1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for HCN1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HCN1 Gene

No ASD Table

Relevant External Links for HCN1 Gene

GeneLoc Exon Structure for
HCN1
ECgene alternative splicing isoforms for
HCN1

Expression for HCN1 Gene

mRNA expression in normal human tissues for HCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HCN1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (9.9), Brain - Anterior cingulate cortex (BA24) (8.1), and Brain - Cortex (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HCN1 Gene

SOURCE GeneReport for Unigene cluster for HCN1 Gene Hs.353176

mRNA Expression by UniProt/SwissProt for HCN1 Gene

O60741-HCN1_HUMAN
Tissue specificity: Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at very low levels in muscle and pancreas.
genes like me logo Genes that share expressions with HCN1: view

In Situ Assay Products

Orthologs for HCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HCN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HCN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HCN1 35
  • 93.2 (n)
  • 96.58 (a)
HCN1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HCN1 35
  • 91.62 (n)
  • 94.9 (a)
HCN1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hcn1 35
  • 89.03 (n)
  • 96.13 (a)
Hcn1 16
Hcn1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HCN1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hcn1 35
  • 89.6 (n)
  • 95.67 (a)
chicken
(Gallus gallus)
Aves HCN1 35
  • 82.25 (n)
  • 90.51 (a)
HCN1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HCN1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hcn1 35
  • 75.65 (n)
  • 82.75 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12130 35
zebrafish
(Danio rerio)
Actinopterygii HCN1 36
  • 85 (a)
OneToOne
LOC100334297 35
  • 73.24 (n)
  • 86.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ih 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
Species with no ortholog for HCN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HCN1 Gene

ENSEMBL:
Gene Tree for HCN1 (if available)
TreeFam:
Gene Tree for HCN1 (if available)

Paralogs for HCN1 Gene

Selected SIMAP similar genes for HCN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HCN1: view

Variants for HCN1 Gene

Sequence variations from dbSNP and Humsavar for HCN1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs755048 -- 45,596,256(-) TCTCA(A/G)CTTAC intron-variant
rs950973 -- 45,261,527(-) AATGA(A/T)CTAGT utr-variant-3-prime
rs953783 -- 45,423,504(+) TTTCT(C/G)CTAAG intron-variant
rs954522 -- 45,475,341(+) ACACA(C/G)ACTAT intron-variant
rs957437 -- 45,635,056(+) CTACT(A/T)TTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HCN1 Gene

Variant ID Type Subtype PubMed ID
nsv881159 CNV Loss 21882294
nsv881442 CNV Loss 21882294
nsv880612 CNV Loss 21882294
nsv462131 CNV Loss 19166990
nsv881063 CNV Loss 21882294
nsv462132 CNV Loss 19166990
nsv4817 CNV Insertion 18451855
nsv508354 CNV Loss 20534489
dgv6047n71 CNV Loss 21882294
nsv462134 CNV Loss 19166990
esv2443570 CNV Loss 19546169
esv1045808 CNV Insertion 17803354
esv2395643 CNV Deletion 18987734
esv2730152 CNV Deletion 23290073
esv2730153 CNV Deletion 23290073
esv1304648 CNV Deletion 17803354
esv1270803 CNV Insertion 17803354
nsv881204 CNV Loss 21882294
nsv830282 CNV Loss 17160897
nsv525575 CNV Gain 19592680
nsv830283 CNV Gain 17160897
esv1002793 CNV Deletion 20482838
esv2730154 CNV Deletion 23290073
esv9392 CNV Loss 19470904
nsv328726 CNV Loss 16902084
esv2665350 CNV Deletion 23128226
esv21451 CNV Loss 19812545
nsv329097 CNV Loss 16902084
esv2512498 CNV Deletion 19546169
esv990960 CNV Insertion 20482838
esv1553862 CNV Insertion 17803354
esv2660982 CNV Deletion 23128226

Relevant External Links for HCN1 Gene

HapMap Linkage Disequilibrium report
HCN1
Human Gene Mutation Database (HGMD)
HCN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HCN1 Gene

Disorders for HCN1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for HCN1 Gene including...

Search for HCN1 Gene in MalaCards »

UniProtKB/Swiss-Prot

HCN1_HUMAN
  • Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871]: A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. {ECO:0000269 PubMed:24747641}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for HCN1 Gene

Disease -log(P) Hits PubMed IDs
epilepsy 23.3 1

Relevant External Links for HCN1

Genetic Association Database (GAD)
HCN1
Human Genome Epidemiology (HuGE) Navigator
HCN1
genes like me logo Genes that share disorders with HCN1: view

Publications for HCN1 Gene

  1. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PMID: 18081024) Laurin N. … Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 23 48
  2. Identification of a gene encoding a hyperpolarization-activated 'pacemaker' channel of brain. (PMID: 9630217) Santoro B. … Tibbs G.R. (Cell 1998) 2 3 4
  3. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. (PMID: 17931874) Tang B. … Escayg A. (Neurobiol. Dis. 2008) 3 23 48
  4. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PMID: 16382102) Hofmann F. … Kaupp U.B. (Pharmacol. Rev. 2005) 2 3
  5. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. (PMID: 24747641) Nava C. … Depienne C. (Nat. Genet. 2014) 3 4

Products for HCN1 Gene

Sources for HCN1 Gene

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