Gene content    
MLLT4 ( by HUGO)
Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,...
Other
Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog
Drosophila); Translocated To
4
AF6
Protein AF-6
ALL1-Fused Gene From Chromosome 6 Protein
Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog); Translocated To
4
afadin
NCBI: 6q27    Ensembl: 6q27
AFAD_HUMANSize: 1824 amino acidsMass: 206804 Da

  • Subunit: Homodimer. Interacts with F-actin, nectin and PVRL3/nectin-3. Essential for the association of nectin and E-cadherin. Isoform 1/s-afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR Sequence caution: Sequence=CAB82312.1; Type=Frameshift; Positions=1509, 1512, 1701; 4 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for MLLT4: 1T2M (3D) [IMAGE] 1XZ9 (3D) [IMAGE] 2AIN (3D) [IMAGE] 2EXG (3D) [IMAGE]
  • Function:
    UniProtKB/Swiss-Prot Summary: AFAD_HUMAN, P55196 Function: Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton
  • Similarity:
    Contains 1 dilute domain
                          
    Contains 1 FHA domain
                          
    Contains 1 PDZ (DHR) domain
                          
    Contains 2 Ras-associating domains [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000159Ras-assocRADomain
    IPR000253FHA_domForkhead-associatedDomain
    IPR001478PDZPDZ/DHR/GLGFDomain
    IPR002710DiluteDiluteDomain
    IPR008984SMAD_FHA_domainSMAD/FHADomain
    BlocksIPB000159RA domainRA domain
    IPB000253Forkhead-associated (FHA)Forkhead-associated (FHA)
    IPB000253Forkhead-associated (FHA) IPB001478 PDZ/DHR/GLGF domain IPB002710 Dilute (DIL) domainForkhead-associated (FHA)

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process cell-cell signaling TAS GOA 8242616
    Cellular Component cell-cell junction TAS GOA 10856295
    Molecular Function protein binding IPI GOA 17491594
    protein C-terminus binding TAS GOA 10856295

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=A chromosomal aberration involving MLLT4 is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein

    MLLT4 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene