Entity Details

Primary name HCN1
Entity type gene
Source Source Link

Details

PrimaryID348980
RefseqGeneNG_042183
SymbolHCN1
Namehyperpolarization activated cyclic nucleotide gated potassium channel 1
Chromosome5
Location5p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-04-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHCN1_HUMAN

GO terms

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GOName
GO:0005222 intracellular cAMP-activated cation channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005267 potassium channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0022843 voltage-gated cation channel activity
GO:0030424 axon
GO:0030425 dendrite
GO:0030552 cAMP binding
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0042802 identical protein binding
GO:0045176 apical protein localization
GO:0046549 retinal cone cell development
GO:0051289 protein homotetramerization
GO:0071320 cellular response to cAMP
GO:0071805 potassium ion transmembrane transport
GO:0098855 HCN channel complex

Diseases

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Disease IDSourceNameDescription
618482 OMIMGeneralized epilepsy with febrile seizures plus 10 (GEFSP10)An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. The disease is caused by variants affecting the gene represented in this entry.
615871 OMIMDevelopmental and epileptic encephalopathy 24 (DEE24)A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions