• Gene id: 4300

Gene Summary

• Gene Symbol: MLLT3   Gene   UCSC   Ensembl
• Aliases: AF9, YEATS3
• Gene name: MLLT3 super elongation complex subunit
• Alternate names: protein AF-9, ALL1-fused gene from chromosome 9 protein, KMT2A/MLLT3 fusion, KMT2A/MLLT3 fusion protein, YEATS domain-containing protein 3, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3, myeloid/lymphoid or mixed-lineage leu,
• Gene location: 9p21.3 (20622498: 20341668)     Exons: 47     NC_000009.12
• OMIM: 159558

Protein Summary

• Protein general information: P42568  
  • Name: Protein AF 9 (ALL1 fused gene from chromosome 9 protein) (Myeloid/lymphoid or mixed lineage leukemia translocated to chromosome 3 protein) (YEATS domain containing protein 3)
  • Length: 568  
  • Mass: 63351
  • Tissue specificity: Enriched in undifferentiated hematopoietic stem cells in fetal liver, cord blood and bone marrow. {ECO
• Sequence:

  MASSCAVQVKLELGHRAQVRKKPTVEGFTHDWMVFVRGPEHSNIQHFVEKVVFHLHESFPRPKRVCKDPPYKVEE
  SGYAGFILPIEVYFKNKEEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNRSIHTSS
  SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDH
  NKSSKESSKKPKENKPLKEEKIVPKMAFKEPKPMSKEPKPDSNLLTITSGQDKKAPSKRPPISDSEELSAKKRKK
  SSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLPPFDDIVDPNDSDVEENISSKSD
  SEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESDEVEDNDNDSEMERPVNRGGSRSRRVSLSDG
  SDSESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQ
  IVNLIEETGHFHITNTTFDFDLCSLDKTTVRKLQSYLETSGTS

• Structural information:
  • Protein Domains: (8..11-)
    (/note="YEATS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00376"-)
  • Interpro: IPR040930  IPR038704  IPR005033  
  • Prosite: PS51037
  • PDB: 2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD 5YYF 6B7G 6MIL 6MIM
  • PDBsum: 2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD 5YYF 6B7G 6MIL 6MIM
  • DIP: 56409
  • STRING: ENSP00000369695
• Other Databases: GeneCards:  MLLT3  Malacards:  MLLT3

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:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0140030	modification-dependent protein binding	IDA	molecular function
GO:0140030	modification-dependent protein binding	IDA	molecular function
GO:0060218	hematopoietic stem cell differentiation	IDA	biological process
GO:2000035	regulation of stem cell division	IDA	biological process
GO:1902275	regulation of chromatin organization	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	IGI	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	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: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: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: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:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0007379	segment specification	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	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
GO:0070062	extracellular exosome	HDA	cellular component

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq