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ATP6V1H Gene(Protein Coding)

ATPase H+ Transporting V1 Subunit H

GCID:
GC08M053715
GIFtS:
56
Genes Participants
UDN Logo

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
  • 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

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1H Gene

Genomics for ATP6V1H Gene

Products:

  1. Regulatory Element

Regulatory Elements for ATP6V1H Gene

Enhancers for ATP6V1H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G054149 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -309.0 -308978 5.1 HDGF PKNOX1 ATF1 ARNT TCF12 ELK1 GATA2 FOS CAVIN1 JUNB ATP6V1H TCEA1 RNU6ATAC32P MRPL15
GH08G054159 0.9 FANTOM5 ENCODE 25.1 -315.6 -315638 0.2 SMARCA4 CEBPA HLF CEBPB CEBPG GABPA ATP6V1H MRPL15 RNU6ATAC32P GC08M054193
GH08G053807 0.7 FANTOM5 22.4 +35.8 35759 0.6 FOXA2 TEAD1 CEBPA FOXA3 TCF7 HNF4A RAD21 FOXA1 ATP6V1H RGS20 TCEA1 GC08P053812 GC08P053789
GH08G054165 1.4 Ensembl ENCODE dbSUPER 10.1 -322.4 -322363 1.0 HDAC1 ATF1 ARID4B SIN3A RAD21 ZNF766 ZNF143 IKZF2 ZNF654 CEBPB MRPL15 SOX17 ATP6V1H TCEA1 RNU6ATAC32P GC08M054193
GH08G054169 1.2 Ensembl ENCODE dbSUPER 10.1 -326.4 -326443 1.6 CTCF GTF2E2 CEBPG RAD21 GTF3C2 POLR2A ZNF143 SMC3 ZNF654 TRIM22 LOC100131254 MRPL15 SOX17 ATP6V1H CHCHD2P10 RNU6ATAC32P GC08M054193
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000224616 658 2201 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9

Transcription factor binding sites by QIAGEN in the ATP6V1H gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ATP6V1H Gene

Proteins for ATP6V1H Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 (PubMed:12032142, PubMed:9620685). Interacts with AP2M1 (PubMed:12032142). Interacts with TM9SF4 in colon cancer cells (PubMed:25659576).

    Alternative splice isoforms for ATP6V1H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1H Gene

Protein Expression for ATP6V1H Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATP6V1H Gene

  • Ubiquitination at Lys396 and posLast=469469
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1H Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA --
GO:0016887 contributes_to ATPase activity NAS 9442887
GO:0030234 enzyme regulator activity NAS 9442887
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA,IEA --
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

CRISPR Products

miRNA for ATP6V1H Gene

miRTarBase miRNAs that target ATP6V1H

Inhibitory RNA Products

Clone Products

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
extracellular 5
cytosol 5
lysosome 5
plasma membrane 4
cytoskeleton 2
nucleus 2

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 & 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006897 endocytosis IDA 12032142
GO:0007035 vacuolar acidification NAS 9442887
GO:0008286 insulin receptor signaling pathway 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

Products:

  1. Drug

(5) Drugs for ATP6V1H Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 37
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V1H Gene - From: HMDB

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

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

Transcripts for ATP6V1H Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ATP6V1H Gene

(5) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(394) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP6V1H Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ATP6V1H Gene
mRNA expression by BioGPS for ATP6V1H GenemRNA expression by GTEx 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, MaxQB, and MOPED for ATP6V1H Gene



Protein tissue co-expression partners for ATP6V1H Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1H Gene:

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)
  • Heart(4.3)
  • Eye(4.2)
  • Liver(4.2)
  • Kidney(3.1)
genes like me logo Genes that share expression patterns with ATP6V1H: view

Primer Products

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 34 35
  • 98 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 96 (a)
 OneToMany
-- 35
  • 78 (a)
 OneToMany
-- 35
  • 77 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia ATP6V1H 34 35
  • 92.13 (n)
mouse
(Mus musculus)
 Mammalia Atp6v1h 34 16 35
  • 91.03 (n)
rat
(Rattus norvegicus)
 Mammalia Atp6v1h 34
  • 90.63 (n)
oppossum
(Monodelphis domestica)
 Mammalia ATP6V1H 35
  • 90 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ATP6V1H 34 35
  • 87.96 (n)
chicken
(Gallus gallus)
 Aves ATP6V1H 34 35
  • 83.12 (n)
lizard
(Anolis carolinensis)
 Reptilia ATP6V1H 35
  • 95 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atp6v1h 34
  • 79.47 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.24365 34
zebrafish
(Danio rerio)
 Actinopterygii atp6v1h 34 35
  • 77.01 (n)
fruit fly
(Drosophila melanogaster)
 Insecta VhaSFD 36 34 35
  • 56.7 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009486 34
  • 55.7 (n)
worm
(Caenorhabditis elegans)
 Secernentea vha-15 34 35
  • 54.56 (n)
T14F9.1 36
  • 51 (a)
vha-18 35
  • 40 (a)
 OneToMany
F52E1.10 36
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VMA13 35 37
  • 21 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT3G42050 34
  • 46.18 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4796 35
  • 57 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1284 34
Species where no ortholog for ATP6V1H was found in the sources mined by GeneCards:
  • 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
rs1000015185 -- 53,725,366(+) AACCT(C/T)GACTT intron-variant
rs1000041457 -- 53,772,564(+) CAAGT(G/T)CTCCA intron-variant
rs1000048773 -- 53,788,455(+) TCTTT(A/G)CCTGG intron-variant
rs1000078147 -- 53,757,865(+) ATGAC(C/T)TCAAG intron-variant
rs1000093367 -- 53,772,855(+) GTTTT(-/A)AAAAA intron-variant

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)

Relevant External Links for ATP6V1H Gene

Human Gene Mutation Database (HGMD)
ATP6V1H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 64
  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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ATP6V1H Gene

Sources for ATP6V1H Gene

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