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

Gene ID: 348980, updated on 12-Aug-2018

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; Vega:OTTHUMG00000131155
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; HAC-2; BCNG-1; EIEE24
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

Genomic context

See HCN1 in Genome Data Viewer
Location:
5p12
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (45254950..45696118, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (45255052..45696220, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MRPS30 divergent transcript Neighboring gene mitochondrial ribosomal protein S30 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epileptic encephalopathy, early infantile, 24
MedGen: C4014531 OMIM: 615871 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • HCN channels, organism-specific biosystem (from REACTOME)
    HCN channels, organism-specific biosystemHyperpolarization-activated cyclic nucleotide-gated (HCN) channels are nonselective ligand-gated cation channels in the plasma membranes of heart and brain cells. HCN channels are sometimes referred ...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP binding IDA
Inferred from Direct Assay
more info
PubMed 
cAMP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
intracellular cAMP-activated cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
voltage-gated sodium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
apical protein localization IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to cAMP IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinal cone cell development IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
HCN channel complex IDA
Inferred from Direct Assay
more info
PubMed 
axon IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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)

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
    5001..446169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021072.3NP_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, AF064876, AF488549, CK299850, DR003732
    Consensus CDS
    CCDS3952.1
    UniProtKB/Swiss-Prot
    O60741
    UniProtKB/TrEMBL
    Q86WJ6
    Related
    ENSP00000307342.4, OTTHUMP00000161806, ENST00000303230.5, OTTHUMT00000253847
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    45254950..45696118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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