ATP6V1G1 ATPase H+ transporting V1 subunit G1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V1G1provided by HGNC
Official Full Name: ATPase H+ transporting V1 subunit G1provided by HGNC
Primary source: HGNC:HGNC:864
See related: Ensembl:ENSG00000136888 MIM:607296; AllianceGenome:HGNC:864
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATP6G; ATP6J; Vma10; ATP6G1; ATP6GL
Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 73.2), adrenal (RPKM 65.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q32

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (114587769..114598879)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (126780187..126791297)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (117350049..117361159)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of the V1G1 subunit of V-ATPase in breast cancer cell migration.
Title: Role of the V1G1 subunit of V-ATPase in breast cancer cell migration.
Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant hypermethylation and decreased expression. The i(12p)-positive cells displayed global hypomethylation of gene-poor regions on 12p, a footprint previously associated with constitutional and acquired gains of whole chromosomes as well as with X-chromosome inactivation in females
Title: Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
RILP regulates vacuolar ATPase through interaction with the V1G1 subunit
Title: RILP regulates vacuolar ATPase through interaction with the V1G1 subunit.
genome-wide association study in population in China: Data suggest 4 SNPs upstream of ATP6V1G1 (rs10817638, rs7851259, rs10982287, rs4979427) are associated (in bivariate manner) with age at menarche and bone density. [includes META-ANALYSIS]
Title: Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche.
RILP regulates the activity of the V-ATPase through its interaction with V1G1.
Title: RILP regulates vacuolar ATPase through interaction with the V1G1 subunit.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98627 (e-PCR)
- UniSTS:87235

Atp6v1g1 (e-PCR), detects polymorphism
- UniSTS:527055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to increased oxygen levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle lumen acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IEA Inferred from Electronic Annotation more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IBA Inferred from Biological aspect of Ancestor more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: V-type proton ATPase subunit G 1

Names: ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J; ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1; V-ATPase 13 kDa subunit 1; V-ATPase subunit G 1; vacuolar ATP synthase subunit M16; vacuolar H(+)-ATPase subunit G 1; vacuolar proton pump subunit G 1; vacuolar proton pump subunit M16

NP_004879.1

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.