Gene table of KCNJ1 : potassium voltage-gated channel subfamily J member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNJ1	OMIM link	Number of associated genes	genes
PS601678	BARTTER SYNDROME	OMIM, HUMSAVAR	link to OMIM	5	BSND, CLCNKA, KCNJ1, SLC12A1, CLCNKB

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Annotation of the gene KCNJ1

Associated genes in ENSEMBL

ENSG00000151704

Associated proteins - SwissProt Accession ID

P48048

Associated PDB IDs

Cytogenetic Band

11q24.3

Tandem repeats annotation

The gene is in the tandem Group 548, together with the genes:

KCNJ5

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Gastric acid secretion	hsa04971	6.48
Aldosterone-regulated sodium reabsorption	hsa04960	7.41

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Neuronal System	R-HSA-112316	4.82
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
Potassium transport channels	R-HSA-1296067	11.4
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
substrate-specific channel activity	GO:0022838	3.67
cation channel activity	GO:0005261	4.04
purine ribonucleoside triphosphate binding	GO:0035639	2.22
passive transmembrane transporter activity	GO:0022803	3.6
ribonucleoside binding	GO:0032549	2.22
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
potassium ion binding	GO:0030955	7.03
peptide binding	GO:0042277	4.22
voltage-gated channel activity	GO:0022832	4.49
ATP-activated inward rectifier potassium channel activity	GO:0015272	8.13
phospholipid binding	GO:0005543	3.91
ligand-gated ion channel activity	GO:0015276	4.8
phosphatidylinositol-4,5-bisphosphate binding	GO:0005546	5.81
ion binding	GO:0043167	1.36
phosphatidylinositol bisphosphate binding	GO:1902936	5.79
transmembrane transporter activity	GO:0022857	2.82
voltage-gated cation channel activity	GO:0022843	4.83
transporter activity	GO:0005215	2.57
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
amide binding	GO:0033218	4.14
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
lipid binding	GO:0008289	3.26
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
transmembrane receptor activity	GO:0099600	2.53
phosphatidylinositol phosphate binding	GO:1901981	5.05
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
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
alkali metal ion binding	GO:0031420	6.69
inward rectifier potassium channel activity	GO:0005242	6.65
ion transmembrane transporter activity	GO:0015075	3.04
phosphatidylinositol binding	GO:0035091	4.47
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
voltage-gated potassium channel activity	GO:0005249	5.24
ligand-gated channel activity	GO:0022834	4.8
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
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18