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... See more...

Aliases for ATP6V1G1 Gene

Aliases for ATP6V1G1 Gene

  • ATPase H+ Transporting V1 Subunit G1 2 3 5
  • ATP6G 2 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member J 2 3
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G1 2 3
  • V-Type Proton ATPase Subunit G 1 3 4
  • Vacuolar Proton Pump Subunit G 1 3 4
  • Vacuolar Proton Pump Subunit M16 3 4
  • V-ATPase 13 KDa Subunit 1 3 4
  • V-ATPase Subunit G 1 3 4
  • ATP6G1 3 4
  • ATP6GL 2 3
  • ATP6J 3 4
  • Vma10 2 3
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 1 2
  • Vacuolar ATP Synthase Subunit M16 3
  • Vacuolar H(+)-ATPase Subunit G 1 3
  • DKFZp547P234 2
  • ATP6V1G1 5

External Ids for ATP6V1G1 Gene

Previous HGNC Symbols for ATP6V1G1 Gene

  • ATP6J
  • ATP6G1

Previous GeneCards Identifiers for ATP6V1G1 Gene

  • GC09P108148
  • GC09P109082
  • GC09P110803
  • GC09P112726
  • GC09P114429
  • GC09P116389
  • GC09P117350
  • GC09P086955
  • GC09P117553
  • GC09P114588
  • GC09P114715
  • GC09P114704
  • GC09P114641
  • GC09P114665
  • GC09P114591
  • GC09P114707
  • GC09P114650

Summaries for ATP6V1G1 Gene

Entrez Gene Summary for ATP6V1G1 Gene

  • 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]

GeneCards Summary for ATP6V1G1 Gene

ATP6V1G1 (ATPase H+ Transporting V1 Subunit G1) is a Protein Coding gene. Diseases associated with ATP6V1G1 include Pallister-Killian Syndrome. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is ATP6V1G2.

UniProtKB/Swiss-Prot Summary for ATP6V1G1 Gene

  • Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Tocris Summary for ATP6V1G1 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V1G1 Gene

Additional gene information for ATP6V1G1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1G1 Gene

Genomics for ATP6V1G1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1G1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1G1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1G1

Top Transcription factor binding sites by QIAGEN in the ATP6V1G1 gene promoter:
  • ATF6
  • Hlf
  • HSF2
  • HTF
  • NF-1
  • NF-1/L
  • SREBP-1a
  • SREBP-1b
  • USF-1
  • USF1

Genomic Locations for ATP6V1G1 Gene

Genomic Locations for ATP6V1G1 Gene
chr9:114,587,769-114,598,879
(GRCh38/hg38)
Size:
11,111 bases
Orientation:
Plus strand
chr9:117,349,994-117,361,152
(GRCh37/hg19)
Size:
11,159 bases
Orientation:
Plus strand

Genomic View for ATP6V1G1 Gene

Genes around ATP6V1G1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1G1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1G1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1G1 Gene

Proteins for ATP6V1G1 Gene

  • Protein details for ATP6V1G1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75348-VATG1_HUMAN
    Recommended name:
    V-type proton ATPase subunit G 1
    Protein Accession:
    O75348
    Secondary Accessions:
    • Q6IB33

    Protein attributes for ATP6V1G1 Gene

    Size:
    118 amino acids
    Molecular mass:
    13758 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d).

neXtProt entry for ATP6V1G1 Gene

Post-translational modifications for ATP6V1G1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1G1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V1G1 Gene

Domains & Families for ATP6V1G1 Gene

Gene Families for ATP6V1G1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1G1 Gene

InterPro:
Blocks:
  • Vacuolar (H+)-ATPase G subunit
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V1G1 Gene

GenScript: Design optimal peptide antigens:
  • ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1, isoform CRA_a (Q6IB33_HUMAN)
  • Vacuolar proton pump subunit M16 (VATG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75348

UniProtKB/Swiss-Prot:

VATG1_HUMAN :
  • Belongs to the V-ATPase G subunit family.
Family:
  • Belongs to the V-ATPase G subunit family.
genes like me logo Genes that share domains with ATP6V1G1: view

Function for ATP6V1G1 Gene

Molecular function for ATP6V1G1 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Phenotypes From GWAS Catalog for ATP6V1G1 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1G1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
GO:0051117 ATPase binding IPI 17360703
genes like me logo Genes that share ontologies with ATP6V1G1: view
genes like me logo Genes that share phenotypes with ATP6V1G1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP6V1G1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1G1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1G1 Gene

Localization for ATP6V1G1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1G1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 4
lysosome 4
nucleus 3
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6V1G1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005765 lysosomal membrane IEA,HDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,ISS --
GO:0016471 vacuolar proton-transporting V-type ATPase complex IBA 21873635
genes like me logo Genes that share ontologies with ATP6V1G1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1G1 Gene

Pathways & Interactions for ATP6V1G1 Gene

genes like me logo Genes that share pathways with ATP6V1G1: view

Gene Ontology (GO) - Biological Process for ATP6V1G1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with ATP6V1G1: view

No data available for SIGNOR curated interactions for ATP6V1G1 Gene

Drugs & Compounds for ATP6V1G1 Gene

(5) Drugs for ATP6V1G1 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(2) Additional Compounds for ATP6V1G1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2

(2) Tocris Compounds for ATP6V1G1 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
genes like me logo Genes that share compounds with ATP6V1G1: view

Transcripts for ATP6V1G1 Gene

mRNA/cDNA for ATP6V1G1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1G1

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1G1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: - - -

Relevant External Links for ATP6V1G1 Gene

GeneLoc Exon Structure for
ATP6V1G1

Expression for ATP6V1G1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V1G1 Gene

Protein differential expression in normal tissues from HIPED for ATP6V1G1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6V1G1 Gene



Protein tissue co-expression partners for ATP6V1G1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1G1

SOURCE GeneReport for Unigene cluster for ATP6V1G1 Gene:

Hs.388654

mRNA Expression by UniProt/SwissProt for ATP6V1G1 Gene:

O75348-VATG1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATP6V1G1 Gene

  • Muscle(4.4)
  • Blood(4.4)
  • Nervous system(4.2)
  • Pancreas(3.9)
  • Skin(3.7)
  • Lung(3.2)
  • Kidney(2.5)
  • Heart(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with ATP6V1G1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1G1 Gene

Orthologs for ATP6V1G1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP6V1G1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP6V1G1 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
ATP6V1G1 30
  • 94.07 (n)
Mouse
(Mus musculus)
Mammalia Atp6v1g1 30 17 31
  • 91.53 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Atp6v1g1 30
  • 91.24 (n)
Cow
(Bos Taurus)
Mammalia ATP6V1G1 30 31
  • 91.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1G1 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP6V1G1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP6V1G1 30 31
  • 80.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6V1G1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1g1 30
  • 72.6 (n)
Str.62 30
African clawed frog
(Xenopus laevis)
Amphibia atp6v1g1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii atp6v1g1 30 31
  • 71.47 (n)
OneToOne
wufa12a02 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10199 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004867 30
  • 57.89 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Vha13 31
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea vha-10 30 31
  • 56.03 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 31
  • 36 (a)
OneToMany
Species where no ortholog for ATP6V1G1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP6V1G1 Gene

ENSEMBL:
Gene Tree for ATP6V1G1 (if available)
TreeFam:
Gene Tree for ATP6V1G1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1G1: view image

Paralogs for ATP6V1G1 Gene

Paralogs for ATP6V1G1 Gene

(3) SIMAP similar genes for ATP6V1G1 Gene using alignment to 1 proteins:

  • VATG1_HUMAN
genes like me logo Genes that share paralogs with ATP6V1G1: view

Variants for ATP6V1G1 Gene

Additional dbSNP identifiers (rs#s) for ATP6V1G1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1G1 Gene

Variant ID Type Subtype PubMed ID
dgv12859n54 CNV gain 21841781
dgv33e196 CNV duplication 17116639
dgv7706n100 CNV gain 25217958
dgv948n27 CNV gain 19166990
esv3621561 CNV loss 21293372
nsv7433 OTHER inversion 18451855
nsv831694 CNV gain 17160897

Variation tolerance for ATP6V1G1 Gene

Gene Damage Index Score: 0.70; 14.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1G1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1G1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1G1 Gene

Disorders for ATP6V1G1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V1G1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
pallister-killian syndrome
  • pks
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V1G1

genes like me logo Genes that share disorders with ATP6V1G1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V1G1 Gene

Publications for ATP6V1G1 Gene

  1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  2. The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. (PMID: 28296633) Miles AL … Nathan JA (eLife 2017) 3 4
  3. Binding interaction of SARS coronavirus 3CL(pro) protease with vacuolar-H+ ATPase G1 subunit. (PMID: 16226257) Lin CW … Li JY (FEBS letters 2005) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. (PMID: 12384298) Smith AN … Karet FE (Gene 2002) 3 4

Products for ATP6V1G1 Gene

  • Signalway Proteins for ATP6V1G1

Sources for ATP6V1G1 Gene