Gene table of KCNH1 : potassium voltage-gated channel subfamily H member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNH1	OMIM link	Number of associated genes	genes
PS135500	ZIMMERMANN-LABAND SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	KCNH1, ATP6V1B2
611816	TEMPLE-BARAITSER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNH1

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Annotation of the gene KCNH1

Associated genes in ENSEMBL

ENSG00000143473

Associated proteins - SwissProt Accession ID

O95259

Associated PDB IDs

5j7e

Cytogenetic Band

1q32.2

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
Voltage gated Potassium channels	R-HSA-1296072	7.56
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
signaling receptor activity	GO:0038023	2.49
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
ion channel binding	GO:0044325	5.02
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
protein heterodimerization activity	GO:0046982	3.64
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
14-3-3 protein binding	GO:0071889	6.65
voltage-gated cation channel activity	GO:0022843	4.83
protein histidine kinase activity	GO:0004673	7.79
protein kinase activity	GO:0004672	3.27
delayed rectifier potassium channel activity	GO:0005251	6.15
metal ion transmembrane transporter activity	GO:0046873	3.71
identical protein binding	GO:0042802	2.63
calmodulin binding	GO:0005516	4.55
kinase activity	GO:0016301	2.93
protein binding	GO:0005515	0.46
inorganic cation transmembrane transporter activity	GO:0022890	3.49
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
substrate-specific transporter activity	GO:0022892	2.72
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
small molecule binding	GO:0036094	1.89
cyclic nucleotide binding	GO:0030551	6.13
substrate-specific channel activity	GO:0022838	3.67
kinase binding	GO:0019900	3.32
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
phosphorelay sensor kinase activity	GO:0000155	7.95
phosphotransferase activity, nitrogenous group as acceptor	GO:0016775	7.25
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
voltage-gated potassium channel activity	GO:0005249	5.24
organic cyclic compound binding	GO:0097159	1.05
protein dimerization activity	GO:0046983	2.72
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
receptor activity	GO:0004872	2.32