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	ATP6V1F
Symbol Alias	ATP6S14, VATF, Vma7
Approved Name	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F
Location	7q32.1
Position	chr7:128502880-128505902, +
External Links	HGNC: 16832 Entrez Gene: 9296 Ensembl: ENSG00000128524 UCSC: uc003voc.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs1472146	Chr7:128503942(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs13226115	Chr7:128504575(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4323418	Chr7:128506970(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1472147	Chr7:128503543(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 18)

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

GO terms by database search (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0090382	phagosome maturation	Biological Process		10
GO:0051701	interaction with host	Biological Process		10
GO:0055085	transmembrane transport	Biological Process		82
GO:0015078	hydrogen ion transmembrane transporter activity	Molecular Function	NAS[8581736]	5
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0015992	proton transport	Biological Process	NAS[8581736]	6
GO:0015991	ATP hydrolysis coupled proton transport	Biological Process		5
GO:0005515	protein binding	Molecular Function	IPI[18752060]	910
GO:0006879	cellular iron ion homeostasis	Biological Process		12
GO:0005829	cytosol	Cellular Component		447
GO:0042624	ATPase activity, uncoupled	Molecular Function	NAS[8581736]	1
GO:0033572	transferrin transport	Biological Process		6
GO:0046961	proton-transporting ATPase activity, rotational mechanism	Molecular Function		1
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	Molecular Function		1
GO:0016469	proton-transporting two-sector ATPase complex	Cellular Component	NAS[8581736]	1
GO:0016020	membrane	Cellular Component	IDA[18752060]	139
GO:0033180	proton-transporting V-type ATPase, V1 domain	Cellular Component		2
GO:0016471	vacuolar proton-transporting V-type ATPase complex	Cellular Component	IDA[18752060]	3

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 ATP6V1F (count: 5)

Gene Symbol	Pathway Count	Pathway List
ATP6V0D2	11	phagosome maturation; interaction with host; transmembrane transport; hydrogen ion transmembrane transporter activity; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; protein binding; cellular iron ion homeostasis; transferrin transport; membrane; vacuolar proton-transporting V-type ATPase complex;
ATP6V0A2	9	phagosome maturation; interaction with host; transmembrane transport; hydrogen ion transmembrane transporter activity; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; protein binding; cellular iron ion homeostasis; transferrin transport;
ATP6V1C2	9	phagosome maturation; interaction with host; transmembrane transport; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; cellular iron ion homeostasis; cytosol; transferrin transport; proton-transporting V-type ATPase, V1 domain;
ATP6V1G1	9	phagosome maturation; interaction with host; transmembrane transport; insulin receptor signaling pathway; proton transport; cellular iron ion homeostasis; cytosol; transferrin transport; vacuolar proton-transporting V-type ATPase complex;
TCIRG1	9	phagosome maturation; interaction with host; transmembrane transport; hydrogen ion transmembrane transporter activity; insulin receptor signaling pathway; proton transport; ATP hydrolysis coupled proton transport; cellular iron ion homeostasis; transferrin transport;

Genes shared at least 2 KEGG pathways with ATP6V1F (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;
ATP6V1G1	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: chr7:128502880..128505902 View in gBrowse