ENSMUSG00000032086


Mus musculus

Features
Gene ID: ENSMUSG00000032086
  
Biological name :Bace1
  
Synonyms : Bace1 / Beta-secretase 1 / P56818
  
Possible biological names infered from orthology : P56817
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: A5.2
Gene start: 45838580
Gene end: 45864399
  
Corresponding Affymetrix probe sets: 10584941 (MoGene1.0st)   1421824_at (Mouse Genome 430 2.0 Array)   1421825_at (Mouse Genome 430 2.0 Array)   1450384_at (Mouse Genome 430 2.0 Array)   1455826_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034591
Ensembl peptide - ENSMUSP00000077249
Ensembl peptide - ENSMUSP00000124773
Ensembl peptide - ENSMUSP00000124960
NCBI entrez gene - 23821     See in Manteia.
MGI - MGI:1346542
RefSeq - XM_011242513
RefSeq - NM_001145947
RefSeq - NM_011792
RefSeq - XM_011242512
RefSeq Peptide - NP_001139419
RefSeq Peptide - NP_035922
swissprot - P56818
swissprot - F6UH57
swissprot - Q8C4F4
swissprot - F6TV37
Ensembl - ENSMUSG00000032086
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 BACE1ENSDARG00000101716Danio rerio
 BACE1ENSGALG00000007298Gallus gallus
 BACE1ENSG00000186318Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Bace2 / beta-site APP-cleaving enzyme 2 / Q9Y5Z0*ENSMUSG0000004060546


Protein motifs (from Interpro)
Interpro ID Name
 IPR001461  Aspartic peptidase A1 family
 IPR001969  Aspartic peptidase, active site
 IPR009119  Beta-secretase BACE
 IPR009120  Beta-secretase BACE1
 IPR021109  Aspartic peptidase domain superfamily
 IPR032799  Xylanase inhibitor, C-terminal
 IPR033121  Peptidase family A1 domain
 IPR033874  Memapsin-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis IEA
 biological_processGO:0007613 memory TAS
 biological_processGO:0030163 protein catabolic process IBA
 biological_processGO:0048167 regulation of synaptic plasticity TAS
 biological_processGO:0050435 amyloid-beta metabolic process IEA
 biological_processGO:0050804 modulation of chemical synaptic transmission TAS
 cellular_componentGO:0005768 endosome ISS
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005771 multivesicular body IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0001540 amyloid-beta binding IEA
 molecular_functionGO:0004175 endopeptidase activity IDA
 molecular_functionGO:0004190 aspartic-type endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity ISO
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000604 amyloidosis "an accumulation of extracellular amyloid in tissues of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0000811 hippocampal neuron degeneration "a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:72427]
Show

Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: 101 * C3H * C57BL/10 * DBA/2J

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Nrg1tm4.1Cbm/Nrg1+
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * BALB/cJ * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

 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]
Show

Allelic Composition: Bace1tm2Psa/Bace1tm2Psa
Genetic Background: involves: 129S4/SvJae * 129S5/SvEvBrd * C57BL/6

 MP:0001362 abnormal anxiety-related response "altered emotional response related to anticipation of a non-specific threat" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, CFG:Center for Functional Genomics, Northwestern University]
Show

Allelic Composition: Chd7Edy/Chd7+
Genetic Background: involves: BALB/c * C3H/HeN

 MP:0001364 decreased anxiety-related response "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

Allelic Composition: Bace1tm2Psa/Bace1tm2Psa
Genetic Background: involves: 129S4/SvJae * 129S5/SvEvBrd * C57BL/6

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

Allelic Composition: Bace1tm2Psa/Bace1tm2Psa
Genetic Background: involves: 129S4/SvJae * 129S5/SvEvBrd * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Nrg1tm4.1Cbm/Nrg1+
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * BALB/cJ * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Nrg1tm4.1Cbm/Nrg1+
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * BALB/cJ * C57BL/6

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
Show

Allelic Composition: Chd7Edy/Chd7+
Genetic Background: involves: BALB/c * C3H/HeN

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0001486 abnormal startle reflex "abberant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

 MP:0001898 abnormal long term depression "change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science:ISBN 0-8385-8034-3]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chd7Edy/Chd7+
Genetic Background: involves: BALB/c * C3H/HeN

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp15tm1Zuk/Bmp15tm1Zuk,Gdf9tm1Zuk/Gdf9tm1Zuk
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Allelic Composition: Bace1tm1.1Slr/Bace1tm1.1Slr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Bace1tm2Slr/Bace1tm2Slr
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

Allelic Composition: Bace1tm1Bux/Bace1tm1Bux
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: 101 * C3H * C57BL/10 * DBA/2J

 MP:0002863 improved righting response "faster ability or less amount of time needed to recover from supine position" [J:86936]
Show

Allelic Composition: Chd7Edy/Chd7+
Genetic Background: involves: BALB/c * C3H/HeN

 MP:0002919 enhanced paired-pulse facilitation "increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0003329 amyloid beta deposits 
Show

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cacna1atg/Cacna1atg
Genetic Background: involves: 101 * C3H * C57BL/10 * DBA/2J

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003484 abnormal channel response "anomalies in the electrophysiological recordings from ion channels" [Nmice:Neuromice Consortium Submission]
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

 MP:0003633 abnormal nervous system physiology 
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Bace2tm1Bdes/Bace2tm1Bdes
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J) or (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1)

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0003998 decreased thermal nociceptive threshold "a lower than average point at which thermal pain sensation is first detectable" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0004000 impaired passive avoidance behavior "decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004069 abnormal muscle spindle morphology "anomalous structure of the sensory organs in muscle that are involved in the stretch reflex" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Nrg1tm4.1Cbm/Nrg1+
Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Bace2tm1Bdes/Bace2tm1Bdes
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J) or (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1)

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Srftm1Nor/Srftm1Nor
Genetic Background: involves: 129P2/OlaHsd

 MP:0008414 abnormal spatial reference memory "anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to naviagate or perform other behavior using such locational cues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0008428 abnormal spatial working memory "anomaly in the ability to spontaneously process spatial location information in order to naviagate or perform other behavior using such locational cues, without previous encounters or training at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0008486 decreased muscle spindle number "reduced number of the sensory organs in muscle that are involved in the stretch reflex" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]
Show

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Nrg1tm4.1Cbm/Nrg1+
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * BALB/cJ * C57BL/6

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Tg(Thy1-Nrg1*I)1Kan/0
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Allelic Composition: Bace1tm1Psa/Bace1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0009142 decreased prepulse inhibition "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009746 enhanced behavioral response to xenobiotic "increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009936 abnormal dendritic spine morphology "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 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: Qke5/Qkqk-k2
Genetic Background: involves: 101/Rl * C57BL/6J * CBA/Ca

Allelic Composition: Bace1tm2Psa/Bace1tm2Psa
Genetic Background: involves: 129S4/SvJae * 129S5/SvEvBrd * C57BL/6

Allelic Composition: Bace1tm1Psa/Bace1tm1Psa,Bace2tm1Bdes/Bace2tm1Bdes
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J) or (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1)

 MP:0011619 abnormal dishabituation "anomaly in the process in which there is a temporary recovery of response to a stimulus when a novel stimulus is added" [GO:0097270]
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Allelic Composition: Bace1tm1Pcw/Bace1tm1Pcw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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