Hs06673065_cn

• Gene Symbol: ATP6V1A
• Assay Reference Genome Location: Chr.3:113754687 on build GRCh38
• Cytoband: 3q13.31

Target Gene Details

• Entrez Gene ID: 523
• Gene Name: ATPase H+ transporting V1 subunit A
• Gene Aliases: ATP6A1, ATP6V1A1, HO68, VA68, VPP2, Vma1
• Location: Chr.3:113747019-113812058 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1A	NM_001690.3			NP_001681.2
	AF113129.1			AAF14870.1
	AK293804.1
	AK295150.1
	AK314779.1
	AL514316.3
	BC013138.1			AAH13138.1
	DC350361.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1013506	Chr.3:113171761 - 113962104 on Build GRCh38	Gain	ZDHHC23 GRAMD1C SPICE1 SIDT1 BOC NAA50 CFAP44 MIR4446 ATP6V1A CFAP44-AS1 USF3 MIR8076
nsv829678	Chr.3:113727330 - 113914206 on Build GRCh38	Loss	GRAMD1C NAA50 ATP6V1A
nsv1013746	Chr.3:113741315 - 113927810 on Build GRCh38	Gain	GRAMD1C NAA50 ATP6V1A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP synthase, primary active transporter, transporter

Gene Ontology Categories:

Process(es)

transport
insulin receptor signaling pathway
ATP hydrolysis coupled proton transport
regulation of macroautophagy
transferrin transport
ion transmembrane transport
ATP metabolic process
phagosome acidification

Function(s)

ATP binding
proton-transporting ATPase activity, rotational mechanism