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

Gene ID: 9550, updated on 19-Sep-2024

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
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Genomic context

See ATP6V1G1 in Genome Data Viewer
Location:
9q32
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114587769..114598879)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126780187..126791297)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117350049..117361159)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene whirlin Neighboring gene uncharacterized LOC124902254 Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 12257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117266242-117267132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117267133-117268023 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:117276161-117276362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28868 Neighboring gene uncharacterized LOC105376229 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:117345492-117345996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117348508-117349327 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117349328-117350146 Neighboring gene MPRA-validated peak7324 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28873 Neighboring gene transmembrane protein 268 Neighboring gene NANOG hESC enhancer GRCh37_chr9:117415620-117416126 Neighboring gene testis expressed 53

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp547P234

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 PubMed 
located_in lysosomal membrane HDA 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 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

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

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.

mRNA and Protein(s)

  1. NM_004888.4NP_004879.1  V-type proton ATPase subunit G 1

    See identical proteins and their annotated locations for NP_004879.1

    Status: REVIEWED

    Source sequence(s)
    AI092246, AL160275, BC008452, BF692207
    Consensus CDS
    CCDS6807.1
    UniProtKB/Swiss-Prot
    O75348, Q6IB33
    Related
    ENSP00000363162.3, ENST00000374050.4
    Conserved Domains (1) summary
    TIGR01147
    Location:1113
    V_ATP_synt_G; vacuolar ATP synthase, subunit G

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    114587769..114598879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    126780187..126791297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)