Gene Report

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Basic Info

Approved Symbol	ATP6V1H
Symbol Alias	CGI-11, SFD, VMA13, SFDalpha, SFDbeta
Approved Name	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
Previous Name	ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H
Name Alias	vacuolar ATP synthase subunit H
Location	8q11.2
Position	chr8:53715557-53843558, -1
External Links	HGNC: 18303 Entrez Gene: 51606 Ensembl: ENSG00000047249 UCSC: uc003xrm.4
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
Goes, F. S.,2012	SNP: rs11773966	OR = 2.17,P-value(Meta) = 0.00000192 Suggestive association was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

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

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0006879	cellular iron ion homeostasis	biological process	TAS	7
GO:0008152	metabolic process	biological process	NAS[9442887]	50
GO:0050790	regulation of catalytic activity	biological process	NAS[9442887]	11
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0033572	transferrin transport	biological process	TAS	7
GO:0090382	phagosome maturation	biological process	TAS	6
GO:0050690	regulation of defense response to virus by virus	biological process	TAS	4
GO:0016032	viral process	biological process	TAS	26
GO:0006897	endocytosis	biological process	IDA[12032142]	15
GO:0051701	interaction with host	biological process	TAS	6
GO:0015991	ATP hydrolysis coupled proton transport	biological process	NAS[9442887]	4
GO:0005515	protein binding	molecular function	IPI[11179428]	563
GO:0030234	enzyme regulator activity	molecular function	NAS[9442887]	3
GO:0007035	vacuolar acidification	biological process	NAS[9442887]	2
GO:0016887	ATPase activity	molecular function	NAS[9442887]	13
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0000221	vacuolar proton-transporting V-type ATPase, V1 domain	cellular component	NAS[9442887]	1
GO:0005829	cytosol	cellular component	TAS	223
GO:0046961	proton-transporting ATPase activity, rotational mechanism	molecular function	IEA	2

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
ATP6V1H	ETHE1	NO	yeast 2-hybrid	16169070
ATP6V1H	ATP6V1E1	NO	in vitro;yeast 2-hybrid	12163484

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11773966	chr8:53642640 - 53642640(1)		1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
8p11.21-q21.13	chr8:39900000-83500000	1 (1/0/0)
Chr 8	chr8:0-145138636	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr8:53715557..53843558 View in gBrowse