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Aliases for ATP6V1G1 Gene

Aliases for ATP6V1G1 Gene

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

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

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. Among its related pathways are Synaptic vesicle cycle and Immune System. GO annotations related to this gene include ATPase activity and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1G3.

UniProtKB/Swiss-Prot 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.

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1G1 Gene

Genomics for ATP6V1G1 Gene

Regulatory Elements for ATP6V1G1 Gene

Enhancers for ATP6V1G1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP6V1G1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1G1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V1G1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1G1 Gene

Chromosome:
9
Start:
114,587,714 bp from pter
End:
114,598,872 bp from pter
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

Proteomics data for ATP6V1G1 Gene at MOPED

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 :

Protein Domains for ATP6V1G1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V1G1 Gene

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.

Gene Ontology (GO) - Molecular Function for ATP6V1G1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
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

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
Jensen Localization Image for ATP6V1G1 Gene COMPARTMENTS Subcellular localization image for ATP6V1G1 gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP6V1G1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
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:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0055085 transmembrane transport TAS --
GO:0090383 phagosome acidification 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

(3) Drugs for ATP6V1G1 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(5) Additional Compounds for ATP6V1G1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2

(4) 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
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
Enterostatin Binds to beta-subunit of F1-ATPase; anorexigenic peptide 117830-79-2
genes like me logo Genes that share compounds with ATP6V1G1: view

Transcripts for ATP6V1G1 Gene

mRNA/cDNA for ATP6V1G1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(708) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP6V1G1 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ATP6V1G1

Expression for ATP6V1G1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ATP6V1G1 Gene



SOURCE GeneReport for Unigene cluster for ATP6V1G1 Gene Hs.388654

mRNA Expression by UniProt/SwissProt for ATP6V1G1 Gene

O75348-VATG1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP6V1G1: view

Protein tissue co-expression partners for ATP6V1G1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ATP6V1G1 35
  • 91.24 (n)
  • 96.61 (a)
ATP6V1G1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1G1 35
  • 94.07 (n)
  • 97.78 (a)
-- 36
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp6v1g1 35
  • 91.53 (n)
  • 94.92 (a)
Atp6v1g1 16
Atp6v1g1 36
  • 95 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1G1 35
  • 99.72 (n)
  • 100 (a)
ATP6V1G1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1g1 35
  • 91.24 (n)
  • 96.61 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V1G1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1G1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V1G1 35
  • 80.79 (n)
  • 84.75 (a)
ATP6V1G1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1G1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1g1 35
  • 72.6 (n)
  • 81.36 (a)
Str.62 35
African clawed frog
(Xenopus laevis)
Amphibia atp6v1g1-prov 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1g1 35
  • 71.47 (n)
  • 77.12 (a)
wufa12a02 35
atp6v1g1 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10199 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004867 35
  • 57.89 (n)
  • 54.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha13 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-10 35
  • 56.03 (n)
  • 51.72 (a)
vha-10 36
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 36
  • 36 (a)
OneToMany
Species with no ortholog for ATP6V1G1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ATP6V1G1 Gene

Paralogs for ATP6V1G1 Gene

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

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

Variants for ATP6V1G1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1G1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs943843 -- 114,587,121(+) AAACT(A/G)TGAGC upstream-variant-2KB
rs7853552 -- 114,598,517(+) ACATA(C/T)CCATT utr-variant-3-prime
rs1802167 -- 114,587,908(+) TGTCC(G/T)AGGCC reference, stop-gained
rs112986199 -- 114,586,902(+) CGCCT(C/T)GGCCT upstream-variant-2KB
rs113116019 -- 114,595,818(+) AGGTC(A/G)TTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893750 CNV Loss 21882294
dgv33e196 CNV Duplication 17116639
dgv948n27 CNV Gain 19166990
nsv831694 CNV Gain 17160897
nsv7433 OTHER Inversion 18451855

Variation tolerance for ATP6V1G1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ATP6V1G1 Gene

Disorders for ATP6V1G1 Gene

Relevant External Links for ATP6V1G1

Genetic Association Database (GAD)
ATP6V1G1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1G1

No disorders were found for ATP6V1G1 Gene.

No data available for MalaCards , 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. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 67
  2. Binding interaction of SARS coronavirus 3CL(pro) protease with vacuolar-H+ ATPase G1 subunit. (PMID: 16226257) Lin C.W. … Li J.Y. (FEBS Lett. 2005) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche. (PMID: 26312577) Tan L.J. … Deng H.W. (J. Clin. Endocrinol. Metab. 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for ATP6V1G1 Gene

Sources for ATP6V1G1 Gene

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