Hs02615119_cn

• Gene Symbol: ATP6V1H
• Assay Reference Genome Location: Chr.8:53715611 on build GRCh38
• Cytoband: 8q11.23

Target Gene Details

• Entrez Gene ID: 51606
• Gene Name: ATPase H+ transporting V1 subunit H
• Gene Aliases: CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
• Location: Chr.8:53715543-53843311 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1H	NM_015941.3	14	2118	NP_057025.2
	NM_213619.2	13	2064	NP_998784.1
	NM_213620.2	14	2012	NP_998785.1
	AF132945.1	14	2038	AAD27720.1
	AI741756.1	1	69
	AK098305.1	14	1957
	BG197001.1	1	382

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2759616	Chr.8:53562029 - 53824913 on Build GRCh38	Loss	ATP6V1H

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP synthase, primary active transporter, transporter

Gene Ontology Categories:

Process(es)

endocytosis
vacuolar acidification
insulin receptor signaling pathway
ATP hydrolysis coupled proton transport
viral process
regulation of macroautophagy
transferrin transport
ion transmembrane transport
regulation of defense response to virus by virus
regulation of catalytic activity
phagosome acidification

Function(s)

protein binding
ATPase activity
enzyme regulator activity
proton-transporting ATPase activity, rotational mechanism