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Literature summary for 3.5.4.16 extracted from

  • Ferdousy, F.; Bodeen, W.; Summers, K.; Doherty, O.; Wright, O.; Elsisi, N.; Hilliard, G.; O'Donnell, J.M.; Reiter, L.T.
    Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism (2011), Neurobiol. Dis., 41, 669-677.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
molecular biology mutations in Punch can act as genetic enhancers of Dube3a over-expression phenotypes Drosophila melanogaster
molecular biology mutations in Punch can act as genetic enhancers of Dube3a overexpression phenotypes Drosophila melanogaster

Organism

Organism UniProt Comment Textmining
Drosophila melanogaster D8FT24 isozyme Pu-RB; GTP cyclohydrolase isoform Pu-RB
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Drosophila melanogaster E4NKN2 isozyme Pu-RC; GTP cyclohydrolase isoform Pu-RC
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Drosophila melanogaster P48596 isozyme Pu-RA; GTP cyclohydrolase isoform Pu-RA
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Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Drosophila melanogaster
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Synonyms

Synonyms Comment Organism
GCH1
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 Drosophila melanogaster
Punch
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 Drosophila melanogaster

Expression

Organism Comment Expression
Drosophila melanogaster Dube3a has a co-transcriptional activation function for GCH1 up
Drosophila melanogaster Dube3a has a co-transcriptional activation function for GCH1. Punch protein isoform B levels change as a result of Dube3a overexpression or loss of function in the fly brain up

General Information

General Information Comment Organism
malfunction three different heterozygous mutations in the Punch gene enhance the gmr-Dube3a rough eye phenotype causing a glazed appearance, loss of inter-ommatidial bristles and often displaying yellowish discoloration indicative of underlying neurodegeneration. In the heterozygous state these mutations in Punch show no eye phenotype when crossed to the gmr-GAL4 driver alone and the individual UAS-Dube3a stocks without gmr-GAL4 do not have rough eyes Drosophila melanogaster
malfunction three different heterozygous mutations in the Punch gene enhance the gmr>Dube3a rough eye phenotype causing a glazed appearance, loss of inter-ommatidial bristles and often displaying yellowish discoloration indicative of underlying neurodegeneration. In the heterozygous state these mutations in Punch show no eye phenotype when crossed to the gmr-GAL4 driver alone and the individual UAS-Dube3a stocks without gmr-GAL4 do not have rough eyes Drosophila melanogaster
metabolism the Punch protein, an enzyme that produces tetrahydrobiopterin, is the rate-limiting co-factor in monoamine synthesis. Dube3a, the fly UBE3A orthologue, regulates Punch/GCH1 in the fly brain. Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism, overview Drosophila melanogaster
metabolism the Punch protein, an enzyme that produces tetrahydrobiopterin, is the rate-limiting cofactor in monoamine synthesis. Dube3a, the fly UBE3A orthologue, regulates Punch/GCH1 in the fly brain. Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism, overview Drosophila melanogaster
physiological function Dube3a, the fly UBE3A orthologue, positively regulates Punch/GCH1 in the fly brain. GCH1 is a UBE3A target involved in neurotransmitter regulation and has broad implications for how the function of this target may contribute to the pathogenesis of Angelman syndrome, duplication 15q autism as well as idiopathic autism linked to UBE3A regulated pathways Drosophila melanogaster