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Description for Protein MLL

myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
37 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
  • PHD: PHD zinc finger
  • BROMO: bromo domain
  • AT_hook: DNA binding domain with preference for A/T rich regions
  • CC: Coiled Coil
  • SET: SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09186
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Zinc finger protein HRX; ALL1; HRX; HTRX1; TRX1; Trithorax like protein
    Approved Symbol:
    MLL
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 83
    Human (de-) phosphorylation sites: 83; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01162 Entrez Gene ID: 4297 OMIM ID: 159555 Swissprot Accession: Q03164;