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 |