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Aliases for ATP6AP1 Gene

Aliases for ATP6AP1 Gene

  • ATPase H+ Transporting Accessory Protein 1 2 3 5
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Subunit 1 2 3
  • ATPase, H+ Transporting, Lysosomal Accessory Protein 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
  • V-Type Proton ATPase Subunit S1 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. Diseases associated with ATP6AP1 include Immunodeficiency 47 and Immunodeficiency Due To Ficolin 3 Deficiency. Among its related pathways are Tuberculosis and Rheumatoid arthritis. 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

  • Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex.

Gene Wiki entry for ATP6AP1 Gene

Additional gene information for ATP6AP1 Gene

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

Genomics for ATP6AP1 Gene

Regulatory Elements for ATP6AP1 Gene

Enhancers for ATP6AP1 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
GH0XH154483 1 ENCODE 12.2 +57.2 57203 3.8 PKNOX1 ATF1 ARNT SIN3A ZBTB7B ZNF766 GLIS2 ELK1 FOS ATF7 FAM3A FAM50A GDI1 CH17-340M24.3 ATP6AP1 UBL4A GC0XM154482
GH0XH154325 0.8 Ensembl ENCODE 11.7 -101.7 -101652 2 OSR2 E2F1 GATA3 SCRT2 ZNF600 TRIM28 PLXNA3 CH17-340M24.3 ATP6AP1 GDI1 FAM50A DNASE1L1 PIR36226 GC0XP154344 GC0XP154343 TEX28
GH0XH154038 1.5 FANTOM5 Ensembl ENCODE 5 -385.3 -385329 9.2 CTCF ZSCAN4 ZNF133 MAX CEBPG FEZF1 EBF1 ZIC2 RAD21 TEAD3 TMEM187 HCFC1 HCFC1-AS1 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A ATP6AP1 EMD
GH0XH154056 1.2 Ensembl ENCODE 5 -371.5 -371456 1.8 ELF3 MLX ARID4B DMAP1 ZNF2 THRB ZSCAN9 RAD21 RARA HSF1 IRAK1 TMEM187 HCFC1 HCFC1-AS1 PLXNA3 SLC10A3 ATP6AP1 PIR60620
GH0XH154505 0.4 ENCODE 12.2 +77.4 77449 1.2 ZIC2 MAFK FAM3A IKBKG G6PD LAGE3 FAM50A GDI1 CH17-340M24.3 ATP6AP1 RENBP GC0XM154496
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6AP1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6AP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249673 168 2001 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ATF7

Genomic Locations for ATP6AP1 Gene

Genomic Locations for ATP6AP1 Gene
chrX:154,428,632-154,436,517
(GRCh38/hg38)
Size:
7,886 bases
Orientation:
Plus strand
chrX:153,656,978-153,664,862
(GRCh37/hg19)

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:
    • Accessory component of the multisubunit proton-transporting vacuolar (V)-ATPase protein pump.
    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

Post-translational modifications for ATP6AP1 Gene

  • N-glycosylated.
  • Ubiquitination at posLast=380380
  • Glycosylation at posLast=170170, posLast=184184, Asn261, posLast=273273, Asn296, posLast=303303, Asn350, and Asn357
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATP6AP1 Gene

Domains & Families for ATP6AP1 Gene

Gene Families for ATP6AP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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

Function for ATP6AP1 Gene

Molecular function for ATP6AP1 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex.

Phenotypes From GWAS Catalog for ATP6AP1 Gene

Gene Ontology (GO) - Molecular Function for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8733135
GO:0005524 ATP binding IEA --
GO:0017137 Rab GTPase binding IEA,ISS --
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
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

CRISPR Products

miRNA for ATP6AP1 Gene

miRTarBase miRNAs that target ATP6AP1

Inhibitory RNA 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

Endoplasmic reticulum membrane; Single-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Note=Not detected in trans-Golgi network. {ECO:0000269 PubMed:27231034}.

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 ATP6AP1 gene
Compartment Confidence
extracellular 5
endosome 5
endoplasmic reticulum 4
plasma membrane 3
cytoskeleton 2
cytosol 2
lysosome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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

Gene Ontology (GO) - Biological Process for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Nutra Agonist 0

(3) 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
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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ATP6AP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP6AP1 Gene:

ATP6AP1

SOURCE GeneReport for Unigene cluster for ATP6AP1 Gene:

Hs.6551

mRNA Expression by UniProt/SwissProt for ATP6AP1 Gene:

Q15904-VAS1_HUMAN
Tissue specificity: widely expressed, with highest levels in brain and lowest in liver and duodenum.

Evidence on tissue expression from TISSUES for ATP6AP1 Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Liver(4.5)
  • Intestine(3.7)
  • Lung(3.7)
  • Skin(3.7)
  • Blood(3.6)
  • Eye(3.3)
  • Pancreas(2.5)
  • Spleen(2.5)
  • Stomach(2.2)
  • Muscle(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with ATP6AP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ATP6AP1 33 34
  • 98.28 (n)
dog
(Canis familiaris)
Mammalia ATP6AP1 34 33
  • 89.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6AP1 33 34
  • 85.94 (n)
rat
(Rattus norvegicus)
Mammalia Atp6ap1 33
  • 85.1 (n)
mouse
(Mus musculus)
Mammalia Atp6ap1 33 16 34
  • 84.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6AP1 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6AP1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6AP1 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6AP1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6ap1.2 33
  • 62.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia X1311 33
zebrafish
(Danio rerio)
Actinopterygii atp6ap1a 33 34
  • 56.12 (n)
atp6ap1b 34
  • 43 (a)
OneToMany
atp6ap1 33
fruit fly
(Drosophila melanogaster)
Insecta VhaAC45 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToMany
Species where no ortholog for ATP6AP1 was found in the sources mined by GeneCards:
  • 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
rs878853275 Pathogenic, Immunodeficiency 47 (IMD47) [MIM:300972] 154,435,762(+) TGGAT(A/G)GGGCT upstream-variant-2KB, reference, missense
rs878853276 Pathogenic, Immunodeficiency 47 (IMD47) [MIM:300972] 154,432,333(+) CACTC(C/T)GACCA reference, missense, utr-variant-5-prime
rs878853277 Pathogenic, Immunodeficiency 47 (IMD47) [MIM:300972] 154,435,338(+) GCCTC(A/G)AAGTC upstream-variant-2KB, reference, missense
rs878853278 Pathogenic, Immunodeficiency 47 (IMD47) [MIM:300972] 154,435,153(+) GACCT(A/G)TGAAC upstream-variant-2KB, reference, missense
rs1000689552 -- 154,430,753(+) TGATA(C/T)ATGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv519042 CNV gain 19592680
esv3575039 CNV loss 25503493
esv33784 CNV gain+loss 17666407
esv33199 CNV gain+loss 17666407

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

Human Gene Mutation Database (HGMD)
ATP6AP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6AP1

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

Disorders for ATP6AP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP6AP1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 47
  • immunodeficiency and hepatopathy with or without neurologic features
immunodeficiency due to ficolin 3 deficiency
  • ficolin 3 deficiency
mental retardation, x-linked syndromic, lubs type
  • syndromic x-linked intellectual disability lubs type
croup
  • acute laryngotracheobronchitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VAS1_HUMAN
  • Immunodeficiency 47 (IMD47) [MIM:300972]: A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. {ECO:0000269 PubMed:27231034}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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

No data available for 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 EY … D'Urso M (Human molecular genetics 1996) 2 3 4 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for ATP6AP1 Gene

Sources for ATP6AP1 Gene

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