• Gene id: 151636

Gene Summary

• Gene Symbol: DTX3L   Gene   UCSC   Ensembl
• Aliases: BBAP, RNF143
• Gene name: deltex E3 ubiquitin ligase 3L
• Alternate names: E3 ubiquitin-protein ligase DTX3L, B-lymphoma- and BAL-associated protein, RING-type E3 ubiquitin transferase DTX3L, deltex 3 like, E3 ubiquitin ligase, deltex 3-like, rhysin-2, rhysin2,
• Gene location: 3q21.1 (122564337: 122575202)     Exons: 5     NC_000003.12
• Gene summary(Entrez): DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
• OMIM: 613143

Protein Summary

• Protein general information: Q8TDB6  
  • Name: E3 ubiquitin protein ligase DTX3L (EC 2.3.2.27) (B lymphoma and BAL associated protein) (Protein deltex 3 like) (RING type E3 ubiquitin transferase DTX3L) (Rhysin 2) (Rhysin2)
  • Length: 740  
  • Mass: 83554
• Sequence:

  MASHLRPPSPLLVRVYKSGPRVRRKLESYFQSSKSSGGGECTVSTQEHEAPGTFRVEFSERAAKERVLKKGEHQI
  LVDEKPVPIFLVPTENSIKKNTRPQISSLTQSQAETPSGDMHQHEGHIPNAVDSCLQKIFLTVTADLNCNLFSKE
  QRAYITTLCPSIRKMEGHDGIEKVCGDFQDIERIHQFLSEQFLESEQKQQFSPSMTERKPLSQQERDSCISPSEP
  ETKAEQKSNYFEVPLPYFEYFKYICPDKINSIEKRFGVNIEIQESSPNMVCLDFTSSRSGDLEAARESFASEFQK
  NTEPLKQECVSLADSKQANKFKQELNHQFTKLLIKEKGGELTLLGTQDDISAAKQKISEAFVKIPVKLFAANYMM
  NVIEVDSAHYKLLETELLQEISEIEKRYDICSKVSEKGQKTCILFESKDRQVDLSVHAYASFIDAFQHASCQLMR
  EVLLLKSLGKERKHLHQTKFADDFRKRHPNVHFVLNQESMTLTGLPNHLAKAKQYVLKGGGMSSLAGKKLKEGHE
  TPMDIDSDDSKAASPPLKGSVSSEASELDKKEKGICVICMDTISNKKVLPKCKHEFCAPCINKAMSYKPICPTCQ
  TSYGIQKGNQPEGSMVFTVSRDSLPGYESFGTIVITYSMKAGIQTEEHPNPGKRYPGIQRTAYLPDNKEGRKVLK
  LLYRAFDQKLIFTVGYSRVLGVSDVITWNDIHHKTSRFGGPEMYGYPDPSYLKRVKEELKAKGIE

• Structural information:
  • Interpro: IPR039396  IPR039399  IPR039398  IPR012677  IPR042843   IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • CDD: cd09633 cd16712
  • PDB: 3PG6
  • PDBsum: 3PG6
  • STRING: ENSP00000296161
• Other Databases: GeneCards:  DTX3L  Malacards:  DTX3L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0000209	protein polyubiquitination	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0008047	enzyme activator activity	IDA	molecular function
GO:1901666	positive regulation of NAD+ ADP-ribosyltransferase activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	colocalizes with
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0005769	early endosome	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:1900182	positive regulation of protein localization to nucleus	IGI	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IGI	biological process
GO:0035563	positive regulation of chromatin binding	IGI	biological process
GO:0033523	histone H2B ubiquitination	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0044389	ubiquitin-like protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033522	histone H2A ubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function
GO:0051444	negative regulation of ubiquitin-protein transferase activity	IMP	biological process
GO:0042393	histone binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0051865	protein autoubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002230	positive regulation of defense response to virus by host	IGI	biological process
GO:0004857	enzyme inhibitor activity	IMP	molecular function
GO:1902966	positive regulation of protein localization to early endosome	IMP	biological process
GO:0032092	positive regulation of protein binding	IMP	biological process
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:2000646	positive regulation of receptor catabolic process	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function
GO:0097677	STAT family protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881