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Aliases for ATP6AP1 Gene

Aliases for ATP6AP1 Gene

  • ATPase H+ Transporting Accessory Protein 1 2 3
  • ATPase, H+ Transporting, Lysosomal Accessory Protein 1 2 3 5
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Subunit 1 2 3
  • Vacuolar Proton Pump Subunit S1 3 4
  • V-ATPase S1 Accessory Protein 3 4
  • V-ATPase Ac45 Subunit 3 4
  • V-ATPase Subunit S1 3 4
  • Protein XAP-3 3 4
  • ATP6IP1 3 4
  • ATP6S1 3 4
  • VATPS1 3 4
  • XAP3 3 4
  • ATPase, H+ Transporting, Lysosomal Interacting Protein 1 3
  • H-ATPase Subunit 3
  • XAP-3 3
  • Ac45 3
  • 16A 3
  • CF2 3

External Ids for ATP6AP1 Gene

Previous HGNC Symbols for ATP6AP1 Gene

  • ATP6S1
  • ATP6IP1

Previous GeneCards Identifiers for ATP6AP1 Gene

  • GC0XP151242
  • GC0XP152124
  • GC0XP153177
  • GC0XP153310
  • GC0XP153657
  • GC0XP142234

Summaries for ATP6AP1 Gene

Entrez Gene Summary for ATP6AP1 Gene

  • This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

GeneCards Summary for ATP6AP1 Gene

ATP6AP1 (ATPase H+ Transporting Accessory Protein 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include transporter activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6AP1L.

UniProtKB/Swiss-Prot for ATP6AP1 Gene

  • Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Gene Wiki entry for ATP6AP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6AP1 Gene

Genomics for ATP6AP1 Gene

Regulatory Elements for ATP6AP1 Gene

Promoters for ATP6AP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6AP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6AP1 Gene

Chromosome:
X
Start:
154,428,632 bp from pter
End:
154,436,517 bp from pter
Size:
7,886 bases
Orientation:
Plus strand

Genomic View for ATP6AP1 Gene

Genes around ATP6AP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6AP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6AP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6AP1 Gene

Proteins for ATP6AP1 Gene

  • Protein details for ATP6AP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15904-VAS1_HUMAN
    Recommended name:
    V-type proton ATPase subunit S1
    Protein Accession:
    Q15904
    Secondary Accessions:
    • A6ZKI4
    • Q8NBT4
    • Q9H0C7

    Protein attributes for ATP6AP1 Gene

    Size:
    470 amino acids
    Molecular mass:
    52026 Da
    Quaternary structure:
    • Composed of at least 10 subunits.
    SequenceCaution:
    • Sequence=BAA03938.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66785.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for ATP6AP1 Gene

Proteomics data for ATP6AP1 Gene at MOPED

Post-translational modifications for ATP6AP1 Gene

  • Ubiquitination at Lys 380
  • Glycosylation at Asn 170, Thr 184, Asn 261, Asn 273, Asn 296, Asn 303, Asn 350, and Asn 357
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ATP6AP1 Gene

Domains & Families for ATP6AP1 Gene

Protein Domains for ATP6AP1 Gene

Suggested Antigen Peptide Sequences for ATP6AP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15904

UniProtKB/Swiss-Prot:

VAS1_HUMAN :
  • Belongs to the vacuolar ATPase subunit S1 family.
Family:
  • Belongs to the vacuolar ATPase subunit S1 family.
genes like me logo Genes that share domains with ATP6AP1: view

No data available for Gene Families for ATP6AP1 Gene

Function for ATP6AP1 Gene

Molecular function for ATP6AP1 Gene

UniProtKB/Swiss-Prot Function:
Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Gene Ontology (GO) - Molecular Function for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IEA,ISS --
genes like me logo Genes that share ontologies with ATP6AP1: view
genes like me logo Genes that share phenotypes with ATP6AP1: view

Animal Models for ATP6AP1 Gene

MGI Knock Outs for ATP6AP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP6AP1

CRISPR Products

miRNA for ATP6AP1 Gene

miRTarBase miRNAs that target ATP6AP1

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP6AP1 Gene

Localization for ATP6AP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6AP1 Gene

Vacuole membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6AP1 Gene COMPARTMENTS Subcellular localization image for ATP6AP1 gene
Compartment Confidence
endosome 5
extracellular 5
vacuole 4
plasma membrane 3
cytoskeleton 2
cytosol 2
lysosome 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ATP6AP1: view

Pathways & Interactions for ATP6AP1 Gene

genes like me logo Genes that share pathways with ATP6AP1: view

Interacting Proteins for ATP6AP1 Gene

Gene Ontology (GO) - Biological Process for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0045669 positive regulation of osteoblast differentiation IEA,ISS --
GO:0045780 positive regulation of bone resorption IEA,ISS --
GO:0045851 pH reduction IEA,ISS --
genes like me logo Genes that share ontologies with ATP6AP1: view

No data available for SIGNOR curated interactions for ATP6AP1 Gene

Drugs & Compounds for ATP6AP1 Gene

(4) Drugs for ATP6AP1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(4) Additional Compounds for ATP6AP1 Gene - From: HMDB and Novoseek

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
genes like me logo Genes that share compounds with ATP6AP1: view

Transcripts for ATP6AP1 Gene

Unigene Clusters for ATP6AP1 Gene

ATPase, H+ transporting, lysosomal accessory protein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6AP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - -
SP2: - -
SP3: -
SP4: - - - - - -
SP5:
SP6: - - - - - -

Relevant External Links for ATP6AP1 Gene

GeneLoc Exon Structure for
ATP6AP1
ECgene alternative splicing isoforms for
ATP6AP1

Expression for ATP6AP1 Gene

mRNA expression in normal human tissues for ATP6AP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6AP1 Gene

This gene is overexpressed in Amniocyte (20.4), Cerebrospinal fluid (8.5), Brain (6.3), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6AP1 Gene



SOURCE GeneReport for Unigene cluster for ATP6AP1 Gene Hs.6551

mRNA Expression by UniProt/SwissProt for ATP6AP1 Gene

Q15904-VAS1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP6AP1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATP6AP1 Gene

Orthologs for ATP6AP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6AP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6AP1 35
  • 85.94 (n)
  • 85.01 (a)
ATP6AP1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6AP1 35
  • 89.79 (n)
  • 90.59 (a)
ATP6AP1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6ap1 35
  • 84.95 (n)
  • 87.47 (a)
Atp6ap1 16
Atp6ap1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6AP1 35
  • 98.28 (n)
  • 98.28 (a)
ATP6AP1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6ap1 35
  • 85.1 (n)
  • 88.98 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6AP1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6AP1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6AP1 36
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6AP1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6ap1.2 35
  • 62.36 (n)
  • 58.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia X1311 35
zebrafish
(Danio rerio)
Actinopterygii atp6ap1 35
atp6ap1a 35
  • 56.12 (n)
  • 51.22 (a)
atp6ap1a 36
  • 46 (a)
OneToMany
atp6ap1b 36
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta VhaAC45 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for ATP6AP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP6AP1 Gene

ENSEMBL:
Gene Tree for ATP6AP1 (if available)
TreeFam:
Gene Tree for ATP6AP1 (if available)

Paralogs for ATP6AP1 Gene

Paralogs for ATP6AP1 Gene

(3) SIMAP similar genes for ATP6AP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ATP6AP1: view

Variants for ATP6AP1 Gene

Sequence variations from dbSNP and Humsavar for ATP6AP1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs3737557 -- 154,431,724(+) CTCAG(C/T)GAGAC intron-variant
rs4898495 -- 154,430,818(+) CAAAT(G/T)CGAGG intron-variant
rs5987262 -- 154,431,253(+) AGCAA(A/G)AGGAC intron-variant
rs11539774 -- 154,432,284(+) TGGCC(A/C)CCTCC reference, missense, utr-variant-5-prime
rs11156577 -- 154,431,695(+) AGTTG(C/T)GCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6AP1 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680

Variation tolerance for ATP6AP1 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6AP1 Gene

HapMap Linkage Disequilibrium report
ATP6AP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6AP1 Gene

Disorders for ATP6AP1 Gene

Relevant External Links for ATP6AP1

Genetic Association Database (GAD)
ATP6AP1
Human Genome Epidemiology (HuGE) Navigator
ATP6AP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6AP1

No disorders were found for ATP6AP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6AP1 Gene

Publications for ATP6AP1 Gene

  1. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. (PMID: 8733135) Chen E.Y. … D'Urso M. (Hum. Mol. Genet. 1996) 2 3 4 67
  2. Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. (PMID: 8281148) Sedlacek Z. … Poustka A. (Hum. Mol. Genet. 1993) 2 3
  3. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Genome-wide shRNA screening identifies host factors involved in early endocytic events for HIV-1-induced CD4 down-regulation. (PMID: 25496667) Landi A. … Verhasselt B. (Retrovirology 2014) 3

Products for ATP6AP1 Gene

Sources for ATP6AP1 Gene

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