Details for Gene DTX1

GENE NAME DTX1
CHROMOSOME 12
ENSEMBL ID ENSG00000135144
ENTREZ ID 1840
UNIPROT ACCESSION NUMBER Q86Y01
GO MOLECULAR FUNCTION Notch binding; ubiquitin protein ligase activity; protein binding; transcription coactivator activity; ubiquitin protein ligase binding; SH3 domain binding; zinc ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-157118; R-HSA-2122948; hsa04330; R-HSA-162582; R-HSA-1980143
1 combination linked to DTX1 OLI920
1 variant linked to DTX1 DTX1:c.1780G>A, p.Gly594Ser
1 disease linked to DTX1 Isolated spina bifida

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