Gene Report

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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	chr9:114587746-114598373, 1
External Links	HGNC: 864 Entrez Gene: 9550 Ensembl: ENSG00000136888 UCSC: uc004bjc.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Sklar, P., 2008	SNP: rs10982292	Suggestive association of this gene was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[17360703]; ISS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0051701	interaction with host	biological process	TAS	6
GO:0005515	protein binding	molecular function	IPI[21516116]	563
GO:0006879	cellular iron ion homeostasis	biological process	TAS	7
GO:0008553	hydrogen-exporting ATPase activity, phosphorylative mechanism	molecular function	IEA	2
GO:0008152	metabolic process	biological process	IEA	50
GO:0033572	transferrin transport	biological process	TAS	7
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0090382	phagosome maturation	biological process	TAS	6
GO:0051117	ATPase binding	molecular function	IPI[17360703]	6
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005829	cytosol	cellular component	ISS; TAS	223
GO:0016471	vacuolar proton-transporting V-type ATPase complex	cellular component	IEA	3
GO:1902600	hydrogen ion transmembrane transport	biological process	IEA	4

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene
hsa00190	Oxidative phosphorylation	7
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	11
hsa05110	Vibrio cholerae infection	9

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATP6V1G1	AP2B1	NO	yeast 2-hybrid	16189514
ATP6V1G1	ATP6V1E1	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10982292	chr9:114563011 - 114563011(1)		1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
9q21-32	chr9:65000000-114900000	1 (0/1/0)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q32-q33	chr9:112100000-127500000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr9:114587746..114598373 View in gBrowse