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lethal[3]malignant brain tumor-like protein; L[3]mbt-like; L[3]mbt protein homolog; H-l[3]mbt protein; H-L[3]MBT (L3MBTL1, L3MBTL, KIAA0681, L3MBT)
Function:
1) polycomb group protein (PcG)
2) ETV6-mediated repression
3) role in cell proliferation, mitosis
4) overexpression induces multinucleated cells
5) interacts with ETV6
6) ubiquitinated (VCP/p97-dependent) following DNA damage, leading to its removal from DNA damage sites, promoting accessibility of H4K20me2 mark for DNA repair protein TP53BP1, which is then recruited to DNA damage sites
7) interacts with RB1/RB (when monomethylated at 'Lys-860')
8) interacts with p53/TP53 (when monomethylated at 'Lys-382')
9) interacts with CBX3, ETV6, SETD8 & VCP/p97
Structure:
- homodimer
- the MBT repeat 2 specifically recognizes & binds monomethylated & dimethylated proteins
- in contrast, it does not bind trimethylated proteins
- the MBT repeat 1 does not bind methylated peptides but inserts a proline ring in a Pro-Ser-Ser/Thr sequence context
- contains 1 C2HC-type Zn+2 finger
- contains 3 MBT repeats
- contains 1 SAM (sterile alpha motif) domain
Compartment:
- nucleus ,excluded from the nucleolus
- does NOT colocalize with the PcG protein BMI1
- in interphase cells, scattered throughout nucleoplasm
- in mitotic cells, associates with condensed chromosomes from prophase to telophase
Alternative splicing: named isoforms=5
Expression:
- widely expressed
Genetics:
- the L3MBTL1 locus is imprinted
- paternal inherited gene is expressed, while the maternal inherited gene is silenced
Pathology:
- expression diminished in colorectal cancer cell line & promyelocytic leukemia cell
General
nuclear protein
zinc finger protein
Properties
SIZE: entity length = 752 aa
MW = 84 kD
COMPARTMENT: cell nucleus
MOTIF: MBT {206-306}
MBT {314-413}
MOTIF: aspartate residue {355}
asparagine residue {358}
methylated peptide interaction {379-386}
MBT {422-517}
Zn finger C2HC-type
SITE: 552-578
EFFECTOR-BOUND: Zn+2
sterile alpha motif
NAME: sterile alpha motif
SITE: 683-747
Database Correlations
OMIM 608802
UniProt Q9Y468
PFAM correlations
Entrez Gene 26013
Kegg hsa:26013
References
- UniProt :accession Q9Y468
- PMID: 20870719
- PMID: 20870725
- PMID: 18026117
- PMID: 18042461
- PMID: 18408754
- PMID: 22120668