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Aliases for ATP6V1H Gene

Aliases for ATP6V1H Gene

  • ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit H 2 3
  • Vacuolar Proton Pump Subunit SFD 3 4
  • Vacuolar ATP Synthase Subunit H 2 3
  • Vacuolar Proton Pump Subunit H 3 4
  • V-ATPase 50/57 KDa Subunits 3 4
  • Nef-Binding Protein 1 3 4
  • Protein VMA13 Homolog 3 4
  • V-ATPase Subunit H 3 4
  • NBP1 3 4
  • ATPase, H+ Transporting, Lysosomal 50/57kD, V1 Subunit H 2
  • V-Type Proton ATPase Subunit H 3
  • Vacuolar ATPase Subunit H 3
  • SFDalpha 3
  • MSTP042 3
  • SFDbeta 3
  • CGI-11 3
  • VMA13 3
  • SFD 3

External Ids for ATP6V1H Gene

Summaries for ATP6V1H Gene

Entrez Gene Summary for ATP6V1H Gene

  • This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for ATP6V1H Gene

ATP6V1H (ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit H) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include ATPase activity and enzyme regulator activity.

UniProtKB/Swiss-Prot for ATP6V1H Gene

  • Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes.

Tocris Summary for ATP6V1H 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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

Gene Wiki entry for ATP6V1H Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1H Gene

Genomics for ATP6V1H Gene

Genomic Location for ATP6V1H Gene

Start:
53,715,543 bp from pter
End:
53,843,558 bp from pter
Size:
128,016 bases
Orientation:
Minus strand

Genomic View for ATP6V1H Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V1H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1H Gene

Regulatory Elements for ATP6V1H Gene

Proteins for ATP6V1H Gene

  • Protein details for ATP6V1H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI12-VATH_HUMAN
    Recommended name:
    V-type proton ATPase subunit H
    Protein Accession:
    Q9UI12
    Secondary Accessions:
    • B3KMR0
    • Q6PK44
    • Q9H3E3
    • Q9Y300

    Protein attributes for ATP6V1H Gene

    Size:
    483 amino acids
    Molecular mass:
    55883 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). Interacts with HIV-1 Nef protein and AP2M1.

    Alternative splice isoforms for ATP6V1H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1H Gene

Proteomics data for ATP6V1H Gene at MOPED

Post-translational modifications for ATP6V1H Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys396 and Lys469

Other Protein References for ATP6V1H Gene

No data available for DME Specific Peptides for ATP6V1H Gene

Domains for ATP6V1H Gene

Gene Families for ATP6V1H Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

Protein Domains for ATP6V1H Gene

Suggested Antigen Peptide Sequences for ATP6V1H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UI12

UniProtKB/Swiss-Prot:

VATH_HUMAN
Family:
  • Belongs to the V-ATPase H subunit family.:
    • Q9UI12
genes like me logo Genes that share domains with ATP6V1H: view

Function for ATP6V1H Gene

Molecular function for ATP6V1H Gene

UniProtKB/Swiss-Prot Function: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes.

Gene Ontology (GO) - Molecular Function for ATP6V1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 11179428
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances --
GO:0016887 contributes_to ATPase activity NAS 9442887
GO:0030234 enzyme regulator activity NAS 9442887
genes like me logo Genes that share ontologies with ATP6V1H: view

miRNA for ATP6V1H Gene

miRTarBase miRNAs that target ATP6V1H

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP6V1H Gene

Localization for ATP6V1H Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1H Gene COMPARTMENTS Subcellular localization image for ATP6V1H gene
Compartment Confidence
vacuole 5
cytosol 4
plasma membrane 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATP6V1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain NAS 9442887
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ATP6V1H: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1H Gene

Pathways for ATP6V1H Gene

genes like me logo Genes that share pathways with ATP6V1H: view

Gene Ontology (GO) - Biological Process for ATP6V1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006897 endocytosis IDA 12032142
GO:0007035 vacuolar acidification NAS 9442887
GO:0008152 metabolic process NAS 9442887
genes like me logo Genes that share ontologies with ATP6V1H: view

Compounds for ATP6V1H Gene

(3) Tocris Compounds for ATP6V1H 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]

(4) HMDB Compounds for ATP6V1H Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with ATP6V1H: view

Transcripts for ATP6V1H Gene

Unigene Clusters for ATP6V1H Gene

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1H Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: - - -
SP3:

Relevant External Links for ATP6V1H Gene

GeneLoc Exon Structure for
ATP6V1H
ECgene alternative splicing isoforms for
ATP6V1H

Expression for ATP6V1H Gene

mRNA expression in normal human tissues for ATP6V1H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V1H Gene

SOURCE GeneReport for Unigene cluster for ATP6V1H Gene Hs.491737

mRNA Expression by UniProt/SwissProt for ATP6V1H Gene

Q9UI12-VATH_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with ATP6V1H: view

No data available for mRNA differential expression in normal tissues for ATP6V1H Gene

Orthologs for ATP6V1H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1H 35
  • 98 (n)
  • 97.52 (a)
ATP6V1H 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V1H 35
  • 87.96 (n)
  • 97.63 (a)
ATP6V1H 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1H 35
  • 92.13 (n)
  • 98.55 (a)
ATP6V1H 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1h 35
  • 91.03 (n)
  • 98.55 (a)
Atp6v1h 16
Atp6v1h 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6V1H 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atp6v1h 35
  • 90.63 (n)
  • 97.73 (a)
chicken
(Gallus gallus)
Aves ATP6V1H 35
  • 83.12 (n)
  • 94.58 (a)
ATP6V1H 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1H 36
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24365 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1h 35
  • 79.47 (n)
  • 92.48 (a)
zebrafish
(Danio rerio)
Actinopterygii atp6v1h 35
  • 77.01 (n)
  • 89.15 (a)
atp6v1h 36
  • 87 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009486 35
  • 55.7 (n)
  • 55.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta VhaSFD 35
  • 56.7 (n)
  • 56.47 (a)
VhaSFD 36
  • 47 (a)
OneToOne
VhaSFD 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea vha-15 35
  • 54.56 (n)
  • 53.61 (a)
vha-15 36
  • 52 (a)
OneToMany
vha-18 36
  • 40 (a)
OneToMany
T14F9.1 37
  • 51 (a)
F52E1.10 37
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA13 36
  • 21 (a)
OneToOne
VMA13 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G42050 35
  • 46.18 (n)
  • 30.73 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1284 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4796 36
  • 57 (a)
OneToOne
Species with no ortholog for ATP6V1H:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V1H Gene

ENSEMBL:
Gene Tree for ATP6V1H (if available)
TreeFam:
Gene Tree for ATP6V1H (if available)

Paralogs for ATP6V1H Gene

No data available for Paralogs for ATP6V1H Gene

Variants for ATP6V1H Gene

Sequence variations from dbSNP and Humsavar for ATP6V1H Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs900163 -- 53,742,706(-) GGAGT(A/G)CTGCT intron-variant
rs958268 -- 53,716,342(-) GGAAA(C/G)TAGTC intron-variant
rs1031979 -- 53,791,208(+) ATCAG(C/T)TCTTA intron-variant
rs1031980 -- 53,792,957(+) GAGTT(C/T)CTGGG intron-variant
rs1481950 -- 53,777,725(-) ttatg(G/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1H Gene

Variant ID Type Subtype PubMed ID
dgv2240e1 CNV Complex 17122850

Relevant External Links for ATP6V1H Gene

HapMap Linkage Disequilibrium report
ATP6V1H
Human Gene Mutation Database (HGMD)
ATP6V1H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1H Gene

Disorders for ATP6V1H Gene

No disorders were found for ATP6V1H Gene.

No data available for UniProtKB/Swiss-Prot for ATP6V1H Gene

Publications for ATP6V1H Gene

  1. Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4. (PMID: 9620685) Lu X. … Peterlin B.M. (Immunity 1998) 2 3 4 23
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4
  3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  4. Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery. (PMID: 12032142) Geyer M. … Peterlin B.M. (J. Biol. Chem. 2002) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ATP6V1H Gene

  • antibodies-online proteins for ATP6V1H
  • antibodies-online antibodies for ATP6V1H
  • antibodies-online kits for ATP6V1H

Sources for ATP6V1H Gene

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