• Gene id: 1840

Gene Summary

• Gene Symbol: DTX1   Gene   UCSC   Ensembl
• Aliases: RNF140, hDx-1
• Gene name: deltex E3 ubiquitin ligase 1
• Alternate names: E3 ubiquitin-protein ligase DTX1, RING-type E3 ubiquitin transferase DTX1, deltex 1, E3 ubiquitin ligase, deltex homolog 1, deltex1, hDTX1, protein deltex-1,
• Gene location: 12q24.13 (113056710: 113098027)     Exons: 10     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 602582

Protein Summary

• Protein general information: Q86Y01  
  • Name: E3 ubiquitin protein ligase DTX1 (EC 2.3.2.27) (Protein deltex 1) (Deltex1) (hDTX1) (RING type E3 ubiquitin transferase DTX1)
  • Length: 620  
  • Mass: 67368
  • 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
• Sequence:

  MSRPGHGGLMPVNGLGFPPQNVARVVVWEWLNEHSRWRPYTATVCHHIENVLKEDARGSVVLGQVDAQLVPYIID
  LQSMHQFRQDTGTMRPVRRNFYDPSSAPGKGIVWEWENDGGAWTAYDMDICITIQNAYEKQHPWLDLSSLGFCYL
  IYFNSMSQMNRQTRRRRRLRRRLDLAYPLTVGSIPKSQSWPVGASSGQPCSCQQCLLVNSTRAASNAILASQRRK
  APPAPPLPPPPPPGGPPGALAVRPSATFTGAALWAAPAAGPAEPAPPPGAPPRSPGAPGGARTPGQNNLNRPGPQ
  RTTSVSARASIPPGVPALPVKNLNGTGPVHPALAGMTGILLCAAGLPVCLTRAPKPILHPPPVSKSDVKPVPGVP
  GVCRKTKKKHLKKSKNPEDVVRRYMQKVKNPPDEDCTICMERLVTASGYEGVLRHKGVRPELVGRLGRCGHMYHL
  LCLVAMYSNGNKDGSLQCPTCKAIYGEKTGTQPPGKMEFHLIPHSLPGFPDTQTIRIVYDIPTGIQGPEHPNPGK
  KFTARGFPRHCYLPNNEKGRKVLRLLITAWERRLIFTIGTSNTTGESDTVVWNEIHHKTEFGSNLTGHGYPDASY
  LDNVLAELTAQGVSEAAAKA

• Structural information:
  • Protein Domains: (14..9-)
    (/note="WWE-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00248-)
    (95..17-)
    (/note="WWE-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00248"-)
  • Interpro: IPR039396  IPR039399  IPR039398  IPR004170  IPR018123   IPR037197  IPR018957  IPR001841  IPR013083  
  • Prosite: PS50918 PS50089
  • CDD: cd09633
  • DIP: 43904
  • STRING: ENSP00000257600
• Other Databases: GeneCards:  DTX1  Malacards:  DTX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045581	negative regulation of T cell differentiation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0010001	glial cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005112	Notch binding	IDA	molecular function
GO:0045665	negative regulation of neuron differentiation	IGI	biological process
GO:0008593	regulation of Notch signaling pathway	IGI	biological process
GO:0006351	transcription, DNA-templated	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray