• Gene id: 348980

Gene Summary

• Gene Symbol: HCN1   Gene   UCSC   Ensembl
• Aliases: BCNG-1, BCNG1, EIEE24, GEFSP10, HAC-2
• Gene name: hyperpolarization activated cyclic nucleotide gated potassium channel 1
• Alternate names: potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1, brain cyclic nucleotide-gated channel 1,
• Gene location: 5p12 (45696379: 45254947)     Exons: 8     NC_000005.10
• Gene summary(Entrez): 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 fo
• OMIM: 615324

Protein Summary

• Protein general information: O60741  
  • Name: Potassium/sodium hyperpolarization activated cyclic nucleotide gated channel 1 (Brain cyclic nucleotide gated channel 1) (BCNG 1)
  • Length: 890  
  • Mass: 98796
  • 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
• Sequence:

  MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGE
  EPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIML
  IMMVGNLVIIPVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVD
  FISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN
  LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWIT
  MLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENIL
  NELNDPLREEIVNFNCRKLVATMPLFANADPNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITK
  SSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI
  LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSH
  SNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYASPTASQLSLMQQQPQQQVQQSQPPQTQPQQ
  PSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGT
  GLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL

• Structural information:
  • Interpro: IPR018490  IPR018488  IPR000595  IPR005821  IPR013621   IPR030169  IPR003938  IPR014710  
  • Prosite: PS00888 PS50042
  • CDD: cd00038
  • PDB: 5U6O 5U6P 6UQF 6UQG
  • PDBsum: 5U6O 5U6P 6UQF 6UQG
  • DIP: 62038
  • STRING: ENSP00000307342
• Other Databases: GeneCards:  HCN1  Malacards:  HCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098855	HCN channel complex	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0022843	voltage-gated cation channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0030552	cAMP binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0071320	cellular response to cAMP	IMP	biological process
GO:0071320	cellular response to cAMP	ISS	biological process
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0030552	cAMP binding	ISS	molecular function
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005249	voltage-gated potassium channel activity	ISS	molecular function
GO:0005222	intracellular cAMP-activated cation channel activity	ISS	molecular function
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0030552	cAMP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045176	apical protein localization	IEA	biological process
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0005222	intracellular cAMP-activated cation channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0046549	retinal cone cell development	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0035725	sodium ion transmembrane transport	IMP	biological process
GO:0071805	potassium ion transmembrane transport	IMP	biological process
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0005248	voltage-gated sodium channel activity	IMP	molecular function
GO:0005267	potassium channel activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04929	GnRH secretion

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Temporal lobe epilepsy	PMID:12890777
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881