Gene table of ATP6V1B1 : ATPase H+ transporting V1 subunit B1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP6V1B1	OMIM link	Number of associated genes	genes
267300	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP6V1B1

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Annotation of the gene ATP6V1B1

Associated genes in ENSEMBL

ENSG00000116039

Associated proteins - SwissProt Accession ID

P15313

Associated PDB IDs

Cytogenetic Band

2p13.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Epithelial cell signaling in Helicobacter pylori infection	hsa05120	6.58
Collecting duct acid secretion	hsa04966	7.91
Oxidative phosphorylation	hsa00190	5.69
Rheumatoid arthritis	hsa05323	6.05
Metabolic pathways	hsa01100	2.49
Synaptic vesicle cycle	hsa04721	6.74
Phagosome	hsa04145	5.27
Vibrio cholerae infection	hsa05110	6.86

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Infectious disease	R-HSA-5663205	4.47
Phagosomal maturation (early endosomal stage)	R-HSA-1222556	7.89
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Transferrin endocytosis and recycling	R-HSA-917977	8.12
Iron uptake and transport	R-HSA-917937	7.56
Latent infection of Homo sapiens with Mycobacterium tuberculosis	R-HSA-1222352	7.89
Insulin receptor recycling	R-HSA-77387	8.28
Signal Transduction	R-HSA-162582	1.78
Signaling by Insulin receptor	R-HSA-74752	4.73
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
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
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
active transmembrane transporter activity	GO:0022804	3.85
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
hydrogen ion transmembrane transporter activity	GO:0015078	5.01
ribonucleotide binding	GO:0032553	2.19