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Aliases for HCN1 Gene

Aliases for HCN1 Gene

  • Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1 2 3 5
  • 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
  • Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium Channel 1 2
  • 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 Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and voltage-gated potassium channel activity. An important paralog of this gene is HCN4.

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.

Tocris Summary for HCN1 Gene

  • HCN (hyperpolarization-activated, cyclic nucleotide-gated) channels are members of the cyclic nucleotide-regulated channel family along with cyclic nucleotide-gated (CNG) channels. They are cationic channels that open under hyperpolarization.

Gene Wiki entry for HCN1 Gene

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

Genomics for HCN1 Gene

Regulatory Elements for HCN1 Gene

Enhancers for HCN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HCN1 on UCSC Golden Path with GeneCards custom track

Promoters for HCN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for HCN1 Gene

Chromosome:
5
Start:
45,254,950 bp from pter
End:
45,696,498 bp from pter
Size:
441,549 bases
Orientation:
Minus strand

Genomic View for HCN1 Gene

Genes around HCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

Post-translational modifications for HCN1 Gene

  • Glycosylation at Asn 338
  • Modification sites at PhosphoSitePlus

Other Protein References for HCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HCN1

No data available for DME Specific Peptides for HCN1 Gene

Domains & Families for HCN1 Gene

Gene Families for HCN1 Gene

Suggested Antigen Peptide Sequences for HCN1 Gene

Graphical View of Domain Structure for InterPro Entry

O60741

UniProtKB/Swiss-Prot:

HCN1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel HCN family.
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:0005222 intracellular cAMP activated cation channel activity ISS --
GO:0005248 voltage-gated sodium channel activity IMP 22748890
GO:0005249 voltage-gated potassium channel activity IEA,ISS --
GO:0005267 potassium channel activity NAS 9405696
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with HCN1: view
genes like me logo Genes that share phenotypes with HCN1: view

Human Phenotype Ontology for HCN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HCN1 Gene

MGI Knock Outs for HCN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for HCN1

CRISPR Products

miRNA for HCN1 Gene

miRTarBase miRNAs that target HCN1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytosol 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 IEA,ISS --
GO:0016021 integral component of membrane NAS 9405696
GO:0030424 axon IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with HCN1: view

Pathways & Interactions for HCN1 Gene

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

Pathways by source for HCN1 Gene

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

Gene Ontology (GO) - Biological Process for HCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport NAS 9405696
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0035725 sodium ion transmembrane transport IMP 22748890
GO:0042391 regulation of membrane potential IMP 22748890
GO:0045176 apical protein localization IEA --
genes like me logo Genes that share ontologies with HCN1: view

No data available for SIGNOR curated interactions for HCN1 Gene

Drugs & Compounds for HCN1 Gene

(8) Drugs for HCN1 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ivabradine Approved Pharma Antagonist, Pore Blocker 0
cyclic amp Experimental Pharma 0
Zatebradine hydrochloride Pharma Blocks hyperpolarization-activated current (If) 0
ZD 7288 Pharma HCN channel inhibitor, Inhibits pacemaker (If) current 0
cilobradine Pharma Antagonist, Pore Blocker 0

(1) Additional Compounds for HCN1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(2) Tocris Compounds for HCN1 Gene

Compound Action Cas Number
Zatebradine hydrochloride Blocks hyperpolarization-activated current (If) 91940-87-3
ZD 7288 Inhibits pacemaker (If) current 133059-99-1

(2) ApexBio Compounds for HCN1 Gene

Compound Action Cas Number
Zatebradine hydrochloride 91940-87-3
ZD 7288 HCN channel inhibitor 133059-99-1
genes like me logo Genes that share compounds with HCN1: view

Transcripts for HCN1 Gene

mRNA/cDNA for HCN1 Gene

Unigene Clusters for HCN1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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) (x9.9), Brain - Anterior cingulate cortex (BA24) (x8.1), and Brain - Cortex (x6.6).

Protein differential expression in normal tissues from HIPED for HCN1 Gene

This gene is overexpressed in Retina (44.4) and Frontal cortex (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HCN1 Gene



Protein tissue co-expression partners for HCN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HCN1 Gene:

HCN1

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 expression patterns with HCN1: view

Primer 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
cow
(Bos Taurus)
Mammalia HCN1 34
  • 93.2 (n)
  • 96.58 (a)
HCN1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HCN1 34
  • 91.62 (n)
  • 94.9 (a)
HCN1 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hcn1 34
  • 89.03 (n)
  • 96.13 (a)
Hcn1 16
Hcn1 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hcn1 34
  • 89.6 (n)
  • 95.67 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HCN1 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HCN1 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves HCN1 34
  • 82.25 (n)
  • 90.51 (a)
HCN1 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HCN1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hcn1 34
  • 75.65 (n)
  • 82.75 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100334297 34
  • 73.24 (n)
  • 86.33 (a)
HCN1 35
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12130 34
fruit fly
(Drosophila melanogaster)
Insecta Ih 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
ManyToMany
Species where no ortholog for HCN1 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs56164833 - 45,695,970(-) GCACC(C/T)CGCCG reference, missense
rs544994462 - 45,695,954(+) CGGCC(A/C)CGCCG reference, missense
rs587777492 Epileptic encephalopathy, early infantile, 24 (EIEE24) 45,695,795(+) GCATG(A/G)AGGTG reference, missense
rs587777493 Epileptic encephalopathy, early infantile, 24 (EIEE24) 45,645,220(+) CCTTG(A/G)AAGTC reference, missense
rs587777495 Epileptic encephalopathy, early infantile, 24 (EIEE24) 45,645,199(+) TTGAT(A/G)TATGT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv5638n100 CNV gain 25217958
dgv9746n54 CNV loss 21841781
dgv9747n54 CNV loss 21841781
dgv9748n54 CNV loss 21841781
dgv9749n54 CNV gain 21841781
dgv9750n54 CNV loss 21841781
esv1002793 CNV deletion 20482838
esv1045808 CNV insertion 17803354
esv1270803 CNV insertion 17803354
esv1304648 CNV deletion 17803354
esv1553862 CNV insertion 17803354
esv21451 CNV loss 19812545
esv2395643 CNV deletion 18987734
esv2443570 CNV loss 19546169
esv2512498 CNV deletion 19546169
esv2660982 CNV deletion 23128226
esv2665350 CNV deletion 23128226
esv2730152 CNV deletion 23290073
esv2730153 CNV deletion 23290073
esv2730154 CNV deletion 23290073
esv2760937 CNV gain+loss 21179565
esv3323257 CNV insertion 20981092
esv3343672 CNV insertion 20981092
esv3565883 CNV deletion 23714750
esv3604949 CNV loss 21293372
esv3604950 CNV loss 21293372
esv3604952 CNV loss 21293372
esv3604953 CNV loss 21293372
esv3894185 CNV gain 25118596
esv9392 CNV loss 19470904
esv990960 CNV insertion 20482838
nsv1027380 CNV loss 25217958
nsv1078823 CNV insertion 25765185
nsv1136995 CNV deletion 24896259
nsv1143133 CNV tandem duplication 24896259
nsv328726 CNV deletion 16902084
nsv329097 CNV deletion 16902084
nsv462131 CNV loss 19166990
nsv462132 CNV loss 19166990
nsv462134 CNV loss 19166990
nsv4817 CNV insertion 18451855
nsv508354 CNV deletion 20534489
nsv525575 CNV gain 19592680
nsv597972 CNV loss 21841781
nsv597980 CNV loss 21841781
nsv597985 CNV loss 21841781
nsv597988 CNV loss 21841781
nsv597992 CNV loss 21841781
nsv597994 CNV loss 21841781
nsv597995 CNV gain 21841781
nsv597996 CNV gain 21841781
nsv830282 CNV loss 17160897
nsv830283 CNV gain 17160897
nsv950680 CNV deletion 24416366
nsv955735 CNV deletion 24416366
nsv956485 CNV deletion 24416366
nsv956502 CNV deletion 24416366

Variation tolerance for HCN1 Gene

Residual Variation Intolerance Score: 7.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HCN1 Gene

Human Gene Mutation Database (HGMD)
HCN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HCN1

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

Disorders for HCN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HCN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HCN1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for HCN1

Genetic Association Database (GAD)
HCN1
Human Genome Epidemiology (HuGE) Navigator
HCN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HCN1
genes like me logo Genes that share disorders with HCN1: view

No data available for Genatlas for HCN1 Gene

Publications for HCN1 Gene

  1. 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 22 46 65
  2. 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 22 46 65
  3. Identification of a gene encoding a hyperpolarization-activated 'pacemaker' channel of brain. (PMID: 9630217) Santoro B. … Tibbs G.R. (Cell 1998) 2 3 4 65
  4. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. (PMID: 24747641) Nava C. … Depienne C. (Nat. Genet. 2014) 3 4 65
  5. Common genetic variants associated with breast cancer and mammographic density measures that predict disease. (PMID: 20145138) Odefrey F. … Southey M.C. (Cancer Res. 2010) 3 46 65

Products for HCN1 Gene

Sources for HCN1 Gene

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