ENSMUSG00000038600


Mus musculus

Features
Gene ID: ENSMUSG00000038600
  
Biological name :Atp6v0a4
  
Synonyms : Atp6v0a4 / ATPase, H+ transporting, lysosomal V0 subunit A4 / Q920R6
  
Possible biological names infered from orthology : ATPase H+ transporting V0 subunit a4 / Q9HBG4
  
Species: Mus musculus
  
Chr. number: 6
Strand: -1
Band: B1
Gene start: 38048483
Gene end: 38124586
  
Corresponding Affymetrix probe sets: 10544036 (MoGene1.0st)   1422030_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000039381
Ensembl peptide - ENSMUSP00000110558
NCBI entrez gene - 140494     See in Manteia.
MGI - MGI:2153480
RefSeq - NM_080467
RefSeq Peptide - NP_536715
swissprot - Q920R6
Ensembl - ENSMUSG00000038600
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:ch73-173p19.2ENSDARG00000103971Danio rerio
 ATP6V0A4ENSGALG00000040666Gallus gallus
 Q9HBG4ENSG00000105929Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Z1G4 / Atp6v0a1 / ATPase, H+ transporting, lysosomal V0 subunit A1 / Q93050* / ATPase H+ transporting V0 subunit a1*ENSMUSG0000001930262
P15920 / Atp6v0a2 / V-type proton ATPase 116 kDa subunit a isoform 2 / Q9Y487* / ATPase H+ transporting V0 subunit a2*ENSMUSG0000003802353
Tcirg1 / T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 / Q13488* / T cell immune regulator 1, ATPase H+ transporting V0 subunit a3*ENSMUSG0000000175047


Protein motifs (from Interpro)
Interpro ID Name
 IPR002490  V-type ATPase, V0 complex, 116kDa subunit family
 IPR026028  ATPase, V0 complex, subunit 116kDa, eukaryotic


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification ISO
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006885 regulation of pH ISO
 biological_processGO:0007035 vacuolar acidification IBA
 biological_processGO:0007588 excretion ISO
 biological_processGO:0007605 sensory perception of sound ISO
 biological_processGO:0015986 ATP synthesis coupled proton transport IBA
 biological_processGO:0015991 ATP hydrolysis coupled proton transport ISA
 biological_processGO:0070072 vacuolar proton-transporting V-type ATPase complex assembly IBA
 biological_processGO:1902600 proton transmembrane transport IEA
 cellular_componentGO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005903 brush border IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0016471 vacuolar proton-transporting V-type ATPase complex ISO
 cellular_componentGO:0031526 brush border membrane ISO
 cellular_componentGO:0033179 proton-transporting V-type ATPase, V0 domain IEA
 cellular_componentGO:0045177 apical part of cell ISO
 molecular_functionGO:0008553 proton-exporting ATPase activity, phosphorylative mechanism ISA
 molecular_functionGO:0015078 proton transmembrane transporter activity IEA
 molecular_functionGO:0046961 proton-transporting ATPase activity, rotational mechanism IBA
 molecular_functionGO:0051117 ATPase binding IBA


Pathways (from Reactome)
Pathway description
ROS, RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

Allelic Composition: Atp6v0a4tm1.1Fekf/Atp6v0a4+
Genetic Background: involves: C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0001426 polydipsia "excessive thirst that is relatively prolonged" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0002067 abnormal sensory capabilities/reflexes/nociception "inability or altered ability to respond to a sensory stimulus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

Allelic Composition: Atp6v0a4m1Anu/Atp6v0a4m1Anu
Genetic Background: C57BL/6NCrlAnu-Atp6v0a4m1Anu

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0002978 absent otoliths "absence of the crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0003019 increased circulating chloride level "elevated concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0003031 acidosis "a pathological state characterized by an increase in the hydrogen ion concentration of arterial blood; caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

Allelic Composition: Atp6v0a4tm1.1Fekf/Atp6v0a4+
Genetic Background: involves: C57BL/6

 MP:0003197 kidney calcification "pathologic deposition of calcium salts in the kidney" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0004119 hypokalemia "excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0004410 absent endocochlear potential "absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0005191 head tilt "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0006012 dilated endolymphatic duct "an expansion in the volume of the endolymphatic duct" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:67072:]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0008309 dilated scala media "stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0008544 impaired olfaction "reduced ability to detect odors" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0008997 increased blood osmolality "increase in the concentration of ions in the blood compared to the normal state" [MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0009350 decreased urine pH "increased urine acidity" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Atp1a3tm1b(EUCOMM)Hmgu/Atp1a3+
Genetic Background: C57BL/6N-Atp1a3tm1b(EUCOMM)Hmgu/H

 MP:0011625 cystolithiasis "caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection" [MGI:csmith]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Hsp90aa1tm1.2Udon/Hsp90aa1tm1.2Udon,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000038023 P15920 / Atp6v0a2 / V-type proton ATPase 116 kDa subunit a isoform 2 / Q9Y487* / ATPase H+ transporting V0 subunit a2*  / complex
 ENSMUSG00000001750 Tcirg1 / T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 / Q13488* / T cell immune regulator 1, ATPase H+ transporting V0 subunit a3*  / complex
 ENSMUSG00000019302 Q9Z1G4 / Atp6v0a1 / ATPase, H+ transporting, lysosomal V0 subunit A1 / Q93050* / ATPase H+ transporting V0 subunit a1*  / complex






 

1 s.

 
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