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)

Function: 1) component of ASC2/NCOA6 complex (ASCOM) 2) component of the MLL3/MLL4 complex 3) weakly methylates Lys4 of histone H3 4) SET domain interacts with histone H3 but not H2A, H2B, H4 5) 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: 1) partial duplication of the MLL3 gene are found in juxtacentromeric region of chromosomes 1, 2, 13 & 21 2) juxtacentromeric reshuffling of the MLL3 gene has generated the BAGE genes

General

nuclear protein N-methyltransferase zinc finger protein

Properties

SIZE: MW = 541 kD entity length = 4911 aa COMPARTMENT: cell nucleus MOTIF: DNA-binding motif SITE: 34-46 coiled coil {92-112} Zinc finger NAME: Zinc finger SITE: 341-391 EFFECTOR-BOUND: Zn+2 MOTIF: RING-finger {344-389} EFFECTOR-BOUND: Zn+2 FOR-BINDING-OF: DNA motif Zinc finger NAME: Zinc finger (3) SITE: 388-520 EFFECTOR-BOUND: Zn+2 coiled coil {644-672} Zinc finger NAME: Zinc finger (3) SITE: 957-1139 EFFECTOR-BOUND: Zn+2 coiled coil {1338-1366} glutamine-rich region {1719-1796} MOTIF: glutamine residue (SEVERAL) coiled coil {1754-1787} proline-rich region SITE: 1834-2281 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 2412-2630 MOTIF: proline residue (SEVERAL) glutamine-rich region {3012-3509} MOTIF: glutamine residue (SEVERAL) coiled coil {3054-3081} coiled coil {3173-3272} proline-rich region SITE: 3277-3381 MOTIF: proline residue (SEVERAL) coiled coil {3391-3433} SET domain {4770-4891} post-SET domain {4895-4911}

Database Correlations

OMIM 606833 UniProt Q8NEZ4 PFAM correlations Entrez Gene 58508 Kegg hsa:58508 ENZYME 2.1.1.43

References

UniProt :accession Q8NEZ4