• Gene id: 4298

Gene Summary

• Gene Symbol: MLLT1   Gene   UCSC   Ensembl
• Aliases: ENL, LTG19, YEATS1
• Gene name: MLLT1 super elongation complex subunit
• Alternate names: protein ENL, CTC-503J8.6, ENL/MLL fusion, MLL/ENL fusion protein, MLLT1/MLL fusion, YEATS domain-containing protein 1, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1, myeloid/lymphoid or mixed-lineage leukemia (trithorax homol,
• Gene location: 19p13.3 (6279974: 6210380)     Exons: 15     NC_000019.10
• OMIM: 159556

Protein Summary

• Protein general information: Q03111  
  • Name: Protein ENL (YEATS domain containing protein 1)
  • Length: 559  
  • Mass: 62056
• Sequence:

  MDNQCTVQVRLELGHRAQLRKKPTTEGFTHDWMVFVRGPEQCDIQHFVEKVVFWLHDSFPKPRRVCKEPPYKVEE
  SGYAGFIMPIEVHFKNKEEPRKVCFTYDLFLNLEGNPPVNHLRCEKLTFNNPTTEFRYKLLRAGGVMVMPEGADT
  VSRPSPDYPMLPTIPLSAFSDPKKTKPSHGSKDANKESSKTSKPHKVTKEHRERPRKDSESKSSSKELEREQAKS
  SKDTSRKLGEGRLPKEEKAPPPKAAFKEPKMALKETKLESTSPKGGPPPPPPPPPRASSKRPATADSPKPSAKKQ
  KKSSSKGSRSAPGTSPRTSSSSSFSDKKPAKDKSSTRGEKVKAESEPREAKKALEVEESNSEDEASFKSESAQSS
  PSNSSSSSDSSSDSDFEPSQNHSQGPLRSMVEDLQSEESDEDDSSSGEEAAGKTNPGRDSRLSFSDSESDNSADS
  SLPSREPPPPQKPPPPNSKVSGRRSPESCSKPEKILKKGTYDKAYTDELVELHRRLMALRERNVLQQIVNLIEET
  GHFNVTNTTFDFDLFSLDETTVRKLQSCLEAVAT

• Structural information:
  • Protein Domains: (8..11-)
    (/note="YEATS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00376"-)
  • Interpro: IPR040930  IPR038704  IPR005033  
  • Prosite: PS51037
  • PDB: 5J9S 6HPW 6HPX 6HPY 6HPZ 6HQ0 6HT0 6HT1 6T1I 6T1J 6T1L 6T1M 6T1N 6T1O
  • PDBsum: 5J9S 6HPW 6HPX 6HPY 6HPZ 6HQ0 6HT0 6HT1 6T1I 6T1J 6T1L 6T1M 6T1N 6T1O
  • STRING: ENSP00000252674
• Other Databases: GeneCards:  MLLT1  Malacards:  MLLT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq