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 regulat... See more...

Aliases for ATP6V1H Gene

Aliases for ATP6V1H Gene

  • ATPase H+ Transporting V1 Subunit H 2 3 5
  • 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
  • V-Type Proton ATPase Subunit H 3 4
  • 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
  • SFDalpha 2 3
  • SFDbeta 2 3
  • CGI-11 2 3
  • VMA13 2 3
  • NBP1 3 4
  • SFD 2 3
  • ATPase, H+ Transporting, Lysosomal 50/57kD, V1 Subunit H 2
  • Vacuolar ATPase Subunit H 3
  • MSTP042 3
  • ATP6V1H 5

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 Sorsby Fundus Dystrophy. Among its related pathways are Insulin receptor recycling and Lysosome. Gene Ontology (GO) annotations related to this gene include binding and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1H Gene

Genomics for ATP6V1H Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1H Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J053841 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 258 +0.3 327 4.9 ZNF207 MYC IKZF1 ZNF600 ZNF580 ZNF592 ZMYM3 KLF9 POLR2A BRCA1 ATP6V1H lnc-TCEA1-2 piR-40795 ENSG00000253667 LOC100507516 MN298114-254 OPRK1
GH08J054149 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.6 -309.0 -308977 5.1 MYC NCOR1 IKZF1 ZNF592 NFIC CEBPB HES1 BHLHE40 MNT ARNT HSALNG0065356 RNU6ATAC32P RF00619-033 ATP6V1H ENSG00000253667 RGS20 TCEA1 HSALNG0065355 RF00017-6500 MRPL15
GH08J053807 Enhancer 0.9 FANTOM5 Ensembl 22.4 +35.8 35757 2.4 ZNF654 YY1 REST TRIM22 CTCF RAD21 SMC3 ZNF316 HNF4A MAFF ATP6V1H RGS20 TCEA1 piR-30449-181 lnc-TCEA1-2 piR-40795 MN298114-254 OPRK1
GH08J054159 Enhancer 0.6 FANTOM5 ENCODE 25.1 -315.6 -315638 0.2 CEBPA CEBPB HLF CEBPG ATP6V1H MRPL15 RF00017-6500 lnc-SOX17-1 SOX17
GH08J054165 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 10.1 -322.3 -322348 0.9 BCLAF1 ZNF654 IKZF1 CTCF REST NFATC3 MAFF RAD21 SMC3 ZNF316 HSALNG0065359 MRPL15 SOX17 ATP6V1H TCEA1 lnc-SOX17-1 HSALNG0065360
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1H on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1H

Top Transcription factor binding sites by QIAGEN in the ATP6V1H gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-1
  • Pax-2
  • Pax-2a

Genomic Locations for ATP6V1H Gene

Latest Assembly
chr8:53,715,543-53,843,558
(GRCh38/hg38)
Size:
128,016 bases
Orientation:
Minus strand

Previous Assembly
chr8:54,628,103-54,755,805
(GRCh37/hg19 by Entrez Gene)
Size:
127,703 bases
Orientation:
Minus strand

chr8:54,628,117-54,756,118
(GRCh37/hg19 by Ensembl)
Size:
128,002 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 AP2M1 (PubMed:12032142). Interacts with TM9SF4 in colon cancer cells (PubMed:25659576).
    • (Microbial infection) Interacts with HIV-1 Nef protein.
    • (Microbial infection) Interacts with M.tuberculosis PtpA, which blocks V-ATPase trafficking and phagosome acidification.

    Alternative splice isoforms for ATP6V1H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1H Gene

Post-translational modifications for ATP6V1H Gene

  • Ubiquitination at Lys396 and Lys469
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATP6V1H Gene

Domains & Families for ATP6V1H Gene

Gene Families for ATP6V1H Gene

Protein Domains for ATP6V1H Gene

Suggested Antigen Peptide Sequences for ATP6V1H Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar proton pump subunit SFD (VATH_HUMAN)

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.

Phenotypes From GWAS Catalog for ATP6V1H Gene

Gene Ontology (GO) - Molecular Function for ATP6V1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9620685
GO:0016887 contributes_to ATPase activity NAS 9442887
GO:0030234 enzyme regulator activity NAS 9442887
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP6V1H: view
genes like me logo Genes that share phenotypes with ATP6V1H: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ATP6V1H

miRNA for ATP6V1H Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1H

Clone products for research

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
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 ATP6V1H gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
lysosome 4
cytoskeleton 2
nucleus 2
endosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

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 IEA,NAS 9442887
GO:0005765 lysosomal membrane HDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome HDA 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:0006811 ion transport IEA --
GO:0006897 endocytosis IDA 12032142
GO:0007035 vacuolar acidification NAS 9442887
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016032 viral process IEA --
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

(6) Drugs for ATP6V1H 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
Phosphate Experimental 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

(1) Additional Compounds for ATP6V1H 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
58-64-0

(2) 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
genes like me logo Genes that share compounds with ATP6V1H: view

Transcripts for ATP6V1H Gene

mRNA/cDNA for ATP6V1H Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1H

Clone products for research

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

Expression for ATP6V1H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP6V1H Gene



Protein tissue co-expression partners for ATP6V1H Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1H

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.

Evidence on tissue expression from TISSUES for ATP6V1H Gene

  • Nervous system(5)
  • Liver(4.4)
  • Heart(4.3)
  • Eye(4.2)
  • Kidney(3.5)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with ATP6V1H: 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 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 29 30
  • 98 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ATP6V1H 29 30
  • 92.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v1h 29 16 30
  • 91.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1h 29
  • 90.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATP6V1H 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V1H 29 30
  • 87.96 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ATP6V1H 29 30
  • 83.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6V1H 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1h 29
  • 79.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24365 29
Zebrafish
(Danio rerio)
Actinopterygii atp6v1h 29 30
  • 77.01 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta VhaSFD 29 30 31
  • 56.7 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009486 29
  • 55.7 (n)
Worm
(Caenorhabditis elegans)
Secernentea vha-15 29 30
  • 54.56 (n)
OneToMany
T14F9.1 31
  • 51 (a)
vha-18 30
  • 40 (a)
OneToMany
F52E1.10 31
  • 39 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA13 30 32
  • 21 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G42050 29
  • 46.18 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4796 30
  • 57 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1284 29
Species where no ortholog for ATP6V1H 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1H: view image
Alliance of Genome Resources:
Additional Orthologs for ATP6V1H

Paralogs for ATP6V1H Gene

No data available for Paralogs for ATP6V1H Gene

Variants for ATP6V1H Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6V1H Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2759616 CNV loss 17122850
nsv1132148 CNV deletion 24896259
nsv1140906 CNV deletion 24896259

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)

Additional Variant Information for ATP6V1H Gene

Human Gene Mutation Database (HGMD)
ATP6V1H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1H
Leiden Open Variation Database (LOVD)
ATP6V1H

SNP Genotyping and Copy Number Assays for research

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 ATP6V1H Gene

Disorders for ATP6V1H Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
sorsby fundus dystrophy
  • sfd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 BM (Immunity 1998) 2 3 4 22
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
  3. TM9SF4 is a novel V-ATPase-interacting protein that modulates tumor pH alterations associated with drug resistance and invasiveness of colon cancer cells. (PMID: 25659576) Lozupone F … Fais S (Oncogene 2015) 3 4
  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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ATP6V1H Gene

Sources for ATP6V1H Gene