histone-lysine N-methyltransferase MLL3; homologous to ALR protein; lysine N-methyltransferase 2C; KMT2C; myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3, HALR, KIAA1506, KMT2C)
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Function
- component of ASC2/NCOA6 complex (ASCOM)
- component of the MLL3/MLL4 complex
- weakly methylates Lys4 of histone H3
- SET domain interacts with histone H3 but not H2A, H2B, H4
- specific tag for epigenetic transcriptional activation
Structure
- the SET domain interacts with histone H3 but not H2A, H2B & H4, & may have a H3 lysine specific methylation activity
- belongs to the histone-lysine methyltransferase family, TRX/MLL subfamily
- contains 1 A.T hook DNA-binding domain
- contains 1 DHHC-type Zn+2 finger
- contains 1 FYR C-terminal domain
- contains 1 FYR N-terminal domain
- contains 6 PHD-type Zn+2 fingers
- contains 1 post-SET domain
- contains 1 RING-type Zn+2 finger
- contains 1 SET domain
Compartment
nucleus (probable)
Alternative splicing
named isoforms=3
Expression
- expressed in testis, ovary, > brain, liver, placenta, peripheral blood, fetal thymus, heart, lung, kidney
- within brain, expression was highest in hippocampus, caudate nucleus, substantia nigra.
- not detected in skeletal muscle, fetal liver
Pathology
- gene found in a critical region of chromosome 7, commonly deleted in malignant myeloid disorders
- may be involved in leukemogenesis & developmental disorder
Genetics
- partial duplication of the MLL3 gene are found in juxtacentromeric region of chromosomes 1, 2, 13 & 21
- juxtacentromeric reshuffling of the MLL3 gene has generated the BAGE genes