Gene table of HCN1 : hyperpolarization activated cyclic nucleotide gated potassium channel 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HCN1	OMIM link	Number of associated genes	genes
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene HCN1

Associated genes in ENSEMBL

ENSG00000164588

Associated proteins - SwissProt Accession ID

O60741

Associated PDB IDs

Cytogenetic Band

5p12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Neuronal System	R-HSA-112316	4.82
HCN channels	R-HSA-1296061	10.98
Potassium Channels	R-HSA-1296071	6.35

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
cation channel activity	GO:0005261	4.04
cyclic nucleotide-gated ion channel activity	GO:0043855	7.34
intracellular cyclic nucleotide activated cation channel activity	GO:0005221	7.34
intracellular cAMP activated cation channel activity	GO:0005222	7.54
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1905030	6.74
substrate-specific channel activity	GO:0022838	3.67
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
sodium ion transmembrane transporter activity	GO:0015081	4.83
ligand-gated ion channel activity	GO:0015276	4.8
nucleotide binding	GO:0000166	1.96
transmembrane transporter activity	GO:0022857	2.82
voltage-gated cation channel activity	GO:0022843	4.83
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
identical protein binding	GO:0042802	2.63
intracellular ligand-gated ion channel activity	GO:0005217	6.41
sodium channel activity	GO:0005272	6.13
voltage-gated potassium channel activity	GO:0005249	5.24
inorganic cation transmembrane transporter activity	GO:0022890	3.49
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
ligand-gated channel activity	GO:0022834	4.8
small molecule binding	GO:0036094	1.89
transmembrane receptor activity	GO:0099600	2.53
passive transmembrane transporter activity	GO:0022803	3.6
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
cAMP binding	GO:0030552	6.56
cyclic nucleotide binding	GO:0030551	6.13
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
voltage-gated sodium channel activity	GO:0005248	6.74
purine ribonucleotide binding	GO:0032555	2.2
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18