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Aliases for ATP6V1H Gene

Aliases for ATP6V1H Gene

  • ATPase H+ Transporting V1 Subunit H 2 3
  • ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit H 2 3 5
  • 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
  • Vacuolar ATPase Subunit H 3
  • SFDalpha 3
  • MSTP042 3
  • SFDbeta 3
  • CGI-11 3
  • VMA13 3
  • SFD 3

External Ids for ATP6V1H Gene

Previous GeneCards Identifiers for ATP6V1H Gene

  • GC08M053927
  • GC08M054567
  • GC08M054351
  • GC08M054678
  • GC08M054790
  • GC08M050095

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 V1 Subunit H) is a Protein Coding gene. Diseases associated with ATP6V1H include hiv-1. Among its related pathways are Insulin receptor recycling and Lysosome. GO annotations related to this gene include binding and proton-transporting ATPase activity, rotational mechanism.

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 and endosomes.

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

Regulatory Elements for ATP6V1H Gene

Enhancers for ATP6V1H 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 ATP6V1H on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V1H on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1H Gene

Chromosome:
8
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

Genes around ATP6V1H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 396 and Lys 469
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATP6V1H Gene

Domains & Families for ATP6V1H Gene

Gene Families for ATP6V1H Gene

HGNC:
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 :
  • Belongs to the V-ATPase H subunit family.
Family:
  • Belongs to the V-ATPase H subunit family.
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:0005515 protein binding IPI 9620685
genes like me logo Genes that share ontologies with ATP6V1H: view
genes like me logo Genes that share phenotypes with ATP6V1H: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP6V1H

miRNA for ATP6V1H Gene

miRTarBase miRNAs that target ATP6V1H

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
cytosol 5
extracellular 5
lysosome 5
vacuole 5
plasma membrane 4
cytoskeleton 2
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP6V1H Gene

GO ID Qualified GO term Evidence PubMed IDs
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 & Interactions 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:0015991 ATP hydrolysis coupled proton transport IEA,NAS 9442887
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0034220 ion transmembrane transport TAS --
GO:0050790 regulation of catalytic activity NAS 9442887
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V1H: view

No data available for SIGNOR curated interactions for ATP6V1H Gene

Drugs & Compounds for ATP6V1H Gene

(3) Drugs for ATP6V1H 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 ATP6V1H 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 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
Enterostatin Binds to beta-subunit of F1-ATPase; anorexigenic peptide 117830-79-2
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

Protein differential expression in normal tissues from HIPED for ATP6V1H Gene

This gene is overexpressed in Bone (26.8) and Frontal cortex (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP6V1H: view

Protein tissue co-expression partners for ATP6V1H Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1H 35
  • 98 (n)
  • 97.52 (a)
ATP6V1H 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1h 35
  • 90.63 (n)
  • 97.73 (a)
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
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
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1h 35
  • 79.47 (n)
  • 92.48 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24365 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1h 35
  • 77.01 (n)
  • 89.15 (a)
atp6v1h 36
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta VhaSFD 37
  • 51 (a)
VhaSFD 35
  • 56.7 (n)
  • 56.47 (a)
VhaSFD 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009486 35
  • 55.7 (n)
  • 55.63 (a)
worm
(Caenorhabditis elegans)
Secernentea F52E1.10 37
  • 39 (a)
T14F9.1 37
  • 51 (a)
vha-15 35
  • 54.56 (n)
  • 53.61 (a)
vha-15 36
  • 52 (a)
OneToMany
vha-18 36
  • 40 (a)
OneToMany
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
rs2128148 -- 53,822,844(-) ctggt(A/C/G)tagca intron-variant
rs2128150 -- 53,735,303(+) CCTAG(A/C)TTTGG intron-variant
rs2170444 -- 53,806,145(+) AAACT(A/G)GAACA intron-variant
rs2170727 -- 53,830,274(+) TCCCC(A/C)CCTTA intron-variant
rs2291218 -- 53,743,798(-) TTTAC(A/G)TACAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2240e1 CNV Complex 17122850

Variation tolerance for ATP6V1H Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.36% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V1H Gene - From: GeneCards

Disorder Aliases PubMed IDs
hiv-1
  • aids, slow progression to
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP6V1H

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1H
genes like me logo Genes that share disorders with ATP6V1H: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  4. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for ATP6V1H Gene

Sources for ATP6V1H Gene

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