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    HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 [ Homo sapiens (human) ]

    Gene ID: 348980, updated on 3-May-2024

    Summary

    Official Symbol
    HCN1provided by HGNC
    Official Full Name
    hyperpolarization activated cyclic nucleotide gated potassium channel 1provided by HGNC
    Primary source
    HGNC:HGNC:4845
    See related
    Ensembl:ENSG00000164588 MIM:602780; AllianceGenome:HGNC:4845
    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
    BCNG1; DEE24; HAC-2; BCNG-1; EIEE24; GEFSP10
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 4.9), heart (RPKM 0.8) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See HCN1 in Genome Data Viewer
    Location:
    5p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (45254948..45696380, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (45508691..45949554, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (45255050..45696482, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:44808788-44809444 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:44809445-44810100 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:44875560-44876759 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:44911606-44912309 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:44960236-44960452 Neighboring gene uncharacterized LOC124901180 Neighboring gene mitochondrial ribosomal protein S30 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:45288792-45289361 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:45385335-45386534 Neighboring gene NANOG hESC enhancer GRCh37_chr5:45398997-45399517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:45694855-45695356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:45695357-45695856 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:45722136-45723335 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:45847424-45848170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:45848171-45848917 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:46322424-46322954 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:46323485-46324014 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:46324015-46324544 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:46339317-46339850 Neighboring gene NANOG hESC enhancer GRCh37_chr5:46362710-46363410 Neighboring gene NANOG hESC enhancer GRCh37_chr5:46382059-46382560 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49410739-49411304 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49411305-49411870 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49431703-49432542 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49433383-49434222 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49432543-49433382 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:49429185-49430023 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49428344-49429184 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49423237-49423778 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:49422693-49423236 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:49418829-49419370 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:49436741-49437580 Neighboring gene NANOG hESC enhancer GRCh37_chr5:49539003-49539504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15999 Neighboring gene peptidylprolyl isomerase A like 4G pseudogene Neighboring gene embigin

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 24
    MedGen: C4014531 OMIM: 615871 GeneReviews: Not available
    Compare labs
    Generalized epilepsy with febrile seizures plus, type 10
    MedGen: C5193120 OMIM: 618482 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study identifies novel breast cancer susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cAMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cAMP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    enables intracellularly cAMP-activated cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables potassium channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables voltage-gated sodium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apical protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cAMP IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to cAMP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in general adaptation syndrome, behavioral process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuronal action potential IEA
    Inferred from Electronic Annotation
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cone cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of HCN channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of HCN channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_042183.1 RefSeqGene

      Range
      4739..446171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021072.4NP_066550.2  potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1

      See identical proteins and their annotated locations for NP_066550.2

      Status: REVIEWED

      Source sequence(s)
      AC099514, AC114975, AF064876, AF488549, CK299850, DR003732
      Consensus CDS
      CCDS3952.1
      UniProtKB/Swiss-Prot
      O60741
      UniProtKB/TrEMBL
      Q86WJ6
      Related
      ENSP00000307342.4, ENST00000303230.6
      Conserved Domains (4) summary
      COG0664
      Location:469604
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:475583
      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:160405
      Ion_trans; Ion transport protein
      pfam08412
      Location:98140
      Ion_trans_N; Ion transport protein N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      45254948..45696380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      45508691..45949554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)