• Gene id: 51514

Gene Summary

• Gene Symbol: DTL   Gene   UCSC   Ensembl
• Aliases: CDT2, DCAF2, L2DTL, RAMP
• Gene name: denticleless E3 ubiquitin protein ligase homolog
• Alternate names: denticleless protein homolog, DDB1- and CUL4-associated factor 2, RA-regulated nuclear matrix-associated protein, lethal(2) denticleless protein homolog, retinoic acid-regulated nuclear matrix-associated protein,
• Gene location: 1q32.3 (49741556: 49764933)     Exons: 16     NC_000012.12
• OMIM: 610617

Protein Summary

• Protein general information: Q9NZJ0  
  • Name: Denticleless protein homolog (DDB1 and CUL4 associated factor 2) (Lethal(2) denticleless protein homolog) (Retinoic acid regulated nuclear matrix associated protein)
  • Length: 730  
  • Mass: 79468
  • Tissue specificity: Expressed in placenta and testis, very low expression seen in skeletal muscle. Detected in all hematopoietic tissues examined, with highest expression in thymus and bone marrow. A low level detected in the spleen and lymph node, and ba
• Sequence:

  MLFNSVLRQPQLGVLRNGWSSQYPLQSLLTGYQCSGNDEHTSYGETGVPVPPFGCTFSSAPNMEHVLAVANEEGF
  VRLYNTESQSFRKKCFKEWMAHWNAVFDLAWVPGELKLVTAAGDQTAKFWDVKAGELIGTCKGHQCSLKSVAFSK
  FEKAVFCTGGRDGNIMVWDTRCNKKDGFYRQVNQISGAHNTSDKQTPSKPKKKQNSKGLAPSVDFQQSVTVVLFQ
  DENTLVSAGAVDGIIKVWDLRKNYTAYRQEPIASKSFLYPGSSTRKLGYSSLILDSTGSTLFANCTDDNIYMFNM
  TGLKTSPVAIFNGHQNSTFYVKSSLSPDDQFLVSGSSDEAAYIWKVSTPWQPPTVLLGHSQEVTSVCWCPSDFTK
  IATCSDDNTLKIWRLNRGLEEKPGGDKLSTVGWASQKKKESRPGLVTVTSSQSTPAKAPRAKCNPSNSSPSSAAC
  APSCAGDLPLPSNTPTFSIKTSPAKARSPINRRGSVSSVSPKPPSSFKMSIRNWVTRTPSSSPPITPPASETKIM
  SPRKALIPVSQKSSQAEACSESRNRVKRRLDSSCLESVKQKCVKSCNCVTELDGQVENLHLDLCCLAGNQEDLSK
  DSLGPTKSSKIEGAGTSISEPPSPISPYASESCGTLPLPLRPCGEGSEMVGKENSSPENKNWLLAMAAKRKAENP
  SPRSPSSQTPNSRRQSGKKLPSPVTITPSSMRKICTYFHRKSQEDFCGPEHSTEL

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 6QC0
  • PDBsum: 6QC0
  • STRING: ENSP00000355958
• Other Databases: GeneCards:  DTL  Malacards:  DTL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031465	Cul4B-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0019985	translesion synthesis	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0005634	nucleus	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0009411	response to UV	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0051726	regulation of cell cycle	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	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:0000209	protein polyubiquitination	TAS	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042769	DNA damage response, detection of DNA damage	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IMP	cellular component
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IMP	biological process
GO:0045732	positive regulation of protein catabolic process	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray