ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ATP6V1G1
Previous Symbol	ATP6J, ATP6G1
Symbol Alias	ATP6GL, Vma10, ATP6G, DKFZp547P234
Approved Name	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1
Previous Name	ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J, "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"
Location	9q33.1
Position	chr9:117349994-117361152, +
External Links	HGNC: 864 Entrez Gene: 9550 Ensembl: ENSG00000136888 UCSC: uc004bjc.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
9q31.1-33.1	chr9:102600000-122500000	1 (1/0/0)

Gene related GO terms (count: 12)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005829	cytosol	Cellular Component		447
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0015992	proton transport	Biological Process		6
GO:0005886	plasma membrane	Cellular Component	IDA[17360703]	772
GO:0006879	cellular iron ion homeostasis	Biological Process		12
GO:0033572	transferrin transport	Biological Process		6
GO:0051117	ATPase binding	Molecular Function	IPI[17360703]	7
GO:0016471	vacuolar proton-transporting V-type ATPase complex	Cellular Component		3
GO:0016820	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	Molecular Function		1
GO:0090382	phagosome maturation	Biological Process		10
GO:0051701	interaction with host	Biological Process		10
GO:0055085	transmembrane transport	Biological Process		82

Gene related KEGG pathways (count: 7)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	16	Two major virulence factors of H. pylori are the vacuolating...... Two major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA). More...
hsa01100	Metabolic pathways	237
hsa05110	Vibrio cholerae infection	10	Cholera toxin (CTX) is one of the main virulence factors of ...... Cholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, the entire CTX complex is carried from plasma membrane (PM) to endoplasmic reticulum (ER). In the ER, the A-chain (CTXA) is recognized by protein disulfide isomerase (PDI), unfolded, and delivered to the membrane where the membrane-associated ER-oxidase, Ero1, oxidizes PDI to release the CTXA into the protein-conducting channel, Sec61. CTXA is then retro-translocated to the cytosol and induces water and electrolyte secretion by increasing cAMP levels via adenylate cyclase (AC) to exert toxicity. More...
hsa05323	Rheumatoid arthritis	17	Rheumatoid arthritis (RA) is a chronic autoimmune joint dise...... Rheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune system elevates pro-inflammatory cytokines and chemokines levels, which can promote synovial angiogenesis and leukocyte infiltration. The synovium forms a hyperplastic pannus with infiltrated macrophage-like and fibroblast-like synoviocytes and invades joints by secreting proteinases and inducing osteoclast differentiation. More...
hsa04145	Phagosome	32	Phagocytosis is the process of taking in relatively large pa...... Phagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is formed when the specific receptors on the phagocyte surface recognize ligands on the particle surface. After formation, nascent phagosomes progressively acquire digestive characteristics. This maturation of phagosomes involves regulated interaction with the other membrane organelles, including recycling endosomes, late endosomes and lysosomes. The fusion of phagosomes and lysosomes releases toxic products that kill most bacteria and degrade them into fragments. However, some bacteria have strategies to escape the bactericidal mechanisms associated with phagocytosis and survive within host phagocytes. More...
hsa04966	Collecting duct acid secretion	7	One of the important roles of the collecting duct segment of...... One of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can drop as low as 4.5. The alpha-intercalated cell of collecting duct is the main responsible for hydrogen secretion into the urine. The carbon dioxide, which is generated in the cells and enters from the blood, is changed to carbonic acid. This carbonic acid is divided into hydrogen ion and bicarbonate ion. Intracellular CA II catalyses the formation of these ions. The hydrogen ion is secreted into the lumen by the luminal H(+)-ATPase. The bicarbonate ion is transported to the blood side by the anion exchanger type 1. Hydrogen ion in the lumen is trapped by urinary buffers. These include ammonium and phosphate. More...
hsa00190	Oxidative phosphorylation	20

Genes shared at least 5 GO terms with ATP6V1G1 (count: 6)

Gene Symbol	Pathway Count	Pathway List
ATP6V1F	9	cytosol; insulin receptor signaling pathway; proton transport; cellular iron ion homeostasis; transferrin transport; vacuolar proton-transporting V-type ATPase complex; phagosome maturation; interaction with host; transmembrane transport;
TCIRG1	8	insulin receptor signaling pathway; proton transport; plasma membrane; cellular iron ion homeostasis; transferrin transport; phagosome maturation; interaction with host; transmembrane transport;
ATP6V1C2	7	cytosol; insulin receptor signaling pathway; cellular iron ion homeostasis; transferrin transport; phagosome maturation; interaction with host; transmembrane transport;
ATP6V0A2	7	insulin receptor signaling pathway; plasma membrane; cellular iron ion homeostasis; transferrin transport; phagosome maturation; interaction with host; transmembrane transport;
ATP6V0D2	7	insulin receptor signaling pathway; cellular iron ion homeostasis; transferrin transport; vacuolar proton-transporting V-type ATPase complex; phagosome maturation; interaction with host; transmembrane transport;
SLC11A1	5	plasma membrane; cellular iron ion homeostasis; phagosome maturation; interaction with host; transmembrane transport;

Genes shared at least 2 KEGG pathways with ATP6V1G1 (count: 26)

Gene Symbol	Pathway Count	Pathway List
ATP6V0A2	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
ATP6V0D2	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
ATP6V1C2	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
ATP6V1F	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
TCIRG1	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
PLCG2	3	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection;
TJP1	2	Epithelial cell signaling in Helicobacter pylori infection; Vibrio cholerae infection;
ATP5L	2	Metabolic pathways; Oxidative phosphorylation;
COX4I1	2	Metabolic pathways; Oxidative phosphorylation;
COX7B2	2	Metabolic pathways; Oxidative phosphorylation;
COX8A	2	Metabolic pathways; Oxidative phosphorylation;
NDUFA4L2	2	Metabolic pathways; Oxidative phosphorylation;
NDUFA5	2	Metabolic pathways; Oxidative phosphorylation;
NDUFA8	2	Metabolic pathways; Oxidative phosphorylation;
NDUFAB1	2	Metabolic pathways; Oxidative phosphorylation;
NDUFC2	2	Metabolic pathways; Oxidative phosphorylation;
NDUFS3	2	Metabolic pathways; Oxidative phosphorylation;
NDUFS8	2	Metabolic pathways; Oxidative phosphorylation;
NDUFV1	2	Metabolic pathways; Oxidative phosphorylation;
NOS1	2	Metabolic pathways; Phagosome;
PIK3C3	2	Metabolic pathways; Phagosome;
SDHD	2	Metabolic pathways; Oxidative phosphorylation;
UQCRC2	2	Metabolic pathways; Oxidative phosphorylation;
SEC61B	2	Vibrio cholerae infection; Phagosome;
HLA-DRB1	2	Rheumatoid arthritis; Phagosome;
TLR4	2	Rheumatoid arthritis; Phagosome;

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Region: chr9:117349994..117361152 View in gBrowse