Gene Gene information from NCBI Gene database.
Entrez ID 1840
Gene name Deltex E3 ubiquitin ligase 1
Gene symbol DTX1
Synonyms (NCBI Gene)
RNF140hDx-1
Chromosome 12
Chromosome location 12q24.13
Summary Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [pr
miRNA miRNA information provided by mirtarbase database.
91
miRTarBase ID miRNA Experiments Reference
MIRT017334 hsa-miR-335-5p Microarray 18185580
MIRT023569 hsa-miR-1-3p Microarray 18668037
MIRT711752 hsa-miR-6849-3p HITS-CLIP 19536157
MIRT711751 hsa-miR-6515-3p HITS-CLIP 19536157
MIRT711750 hsa-miR-1236-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity TAS 9590294
GO:0005112 Function Notch binding IDA 11564735
GO:0005515 Function Protein binding IPI 7671825, 17028573, 21124883, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602582 3060 ENSG00000135144
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86Y01
Protein name E3 ubiquitin-protein ligase DTX1 (EC 2.3.2.27) (Protein deltex-1) (Deltex1) (hDTX1) (RING-type E3 ubiquitin transferase DTX1)
Protein function Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a s
PDB 6Y5N , 6Y5P , 8R5N , 8R6A , 8R6B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02825 WWE 26 94 WWE domain Family
PF02825 WWE 107 171 WWE domain Family
PF00097 zf-C3HC4 411 471 Zinc finger, C3HC4 type (RING finger) Domain
PF18102 DTC 479 613 Deltex C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Strongly expressed in blood vessel. Also expressed in embryonic nervous system, pancreas, lung, adrenal gland, digestive tube and muscles. Expressed in MZB cells and developing B- and T-cells. {ECO:0000269|PubMed:1275
Sequence
MSRPGHGGLMPVNGLGFPPQNVARVVVWEWLNEHSRWRPYTATVCHHIENVLKEDARGSV
VLGQVDAQLVPYIIDLQSMHQFRQDTGTMRPVRR
NFYDPSSAPGKGIVWEWENDGGAWTA
YDMDICITIQNAYEKQHPWLDLSSLGFCYLIYFNSMSQMNRQTRRRRRLRR
RLDLAYPLT
VGSIPKSQSWPVGASSGQPCSCQQCLLVNSTRAASNAILASQRRKAPPAPPLPPPPPPGG
PPGALAVRPSATFTGAALWAAPAAGPAEPAPPPGAPPRSPGAPGGARTPGQNNLNRPGPQ
RTTSVSARASIPPGVPALPVKNLNGTGPVHPALAGMTGILLCAAGLPVCLTRAPKPILHP
PPVSKSDVKPVPGVPGVCRKTKKKHLKKSKNPEDVVRRYMQKVKNPPDEDCTICMERLVT
ASGYEGVLRHKGVRPELVGRLGRCGHMYHLLCLVAMYSNGNKDGSLQCPTC
KAIYGEKTG
TQPPGKMEFHLIPHSLPGFPDTQTIRIVYDIPTGIQGPEHPNPGKKFTARGFPRHCYLPN
NEKGRKVLRLLITAWERRLIFTIGTSNTTGESDTVVWNEIHHKTEFGSNLTGHGYPDASY
LDNVLAELTAQGV
SEAAAKA
Sequence length 620
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Notch signaling pathway   Activated NOTCH1 Transmits Signal to the Nucleus
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, PANCREATIC DUCTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Oligodendroglioma Oligodendroglioma CTD_human_DG 21127729
★☆☆☆☆
Found in Text Mining only
Anaplastic Oligodendroglioma Anaplastic Oligodendroglioma CTD_human_DG 21127729
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 30629240
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31313037
★☆☆☆☆
Found in Text Mining only
Carcinoma, Pancreatic Ductal Pancreatic Ductal Carcinoma CTD_human_DG 19208345
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Childhood Oligodendroglioma Oligodendroglioma CTD_human_DG 21127729
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 28931525
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36160034 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 23451269, 26662803
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 23451269, 26662803 Associate
★☆☆☆☆
Found in Text Mining only