UniProt functional annotation for Q9Y468



	UniProt functional annotation for Q9Y468

UniProt code: Q9Y468.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/H1-4 at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53- target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys- 860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis. {ECO:0000269|PubMed:17540172, ECO:0000269|PubMed:18408754, ECO:0000269|PubMed:20870719, ECO:0000269|PubMed:20870725}.

Subunit: Homodimer. Interacts with RB1/RB (when monomethylated at 'Lys- 860'). Interacts with p53/TP53 (when monomethylated at 'Lys-382'). Interacts with CBX3, ETV6, KMT5A and VCP/p97. {ECO:0000269|PubMed:12588862, ECO:0000269|PubMed:17540172, ECO:0000269|PubMed:18026117, ECO:0000269|PubMed:18042461, ECO:0000269|PubMed:18408754, ECO:0000269|PubMed:20870719, ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22120668}.

Subcellular location: Nucleus {ECO:0000269|PubMed:10445843}. Note=Excluded from the nucleolus. Does not colocalizes with the PcG protein BMI1, suggesting that these two proteins do not belong to the same complex.

Tissue specificity: Widely expressed. Expression is reduced in colorectal cancer cell line SW480 and promyelocytic leukemia cell line HL-60. {ECO:0000269|PubMed:10445843}.

Developmental stage: In interphase cells, it is scattered throughout the nucleoplasm. In mitotic cells, it strongly associates with condensed chromosomes from the prophase to telophase.

Domain: The MBT repeat 2 specifically recognizes and binds monomethylated and 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. {ECO:0000269|PubMed:18042461}.

Ptm: Ubiquitinated in a VCP/p97-dependent way 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. {ECO:0000269|PubMed:22120668}.

Miscellaneous: The L3MBTL1 locus is imprinted. Paternal inherited gene is expressed, while the maternal inherited gene is silenced.

Sequence caution: Sequence=EAW75958.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW75961.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW75962.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/H1-4 at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53- target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys- 860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis. {ECO:0000269\|PubMed:17540172, ECO:0000269\|PubMed:18408754, ECO:0000269\|PubMed:20870719, ECO:0000269\|PubMed:20870725}.


Subunit:		Homodimer. Interacts with RB1/RB (when monomethylated at 'Lys- 860'). Interacts with p53/TP53 (when monomethylated at 'Lys-382'). Interacts with CBX3, ETV6, KMT5A and VCP/p97. {ECO:0000269\|PubMed:12588862, ECO:0000269\|PubMed:17540172, ECO:0000269\|PubMed:18026117, ECO:0000269\|PubMed:18042461, ECO:0000269\|PubMed:18408754, ECO:0000269\|PubMed:20870719, ECO:0000269\|PubMed:20870725, ECO:0000269\|PubMed:22120668}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:10445843}. Note=Excluded from the nucleolus. Does not colocalizes with the PcG protein BMI1, suggesting that these two proteins do not belong to the same complex.
Tissue specificity:		Widely expressed. Expression is reduced in colorectal cancer cell line SW480 and promyelocytic leukemia cell line HL-60. {ECO:0000269\|PubMed:10445843}.
Developmental stage:		In interphase cells, it is scattered throughout the nucleoplasm. In mitotic cells, it strongly associates with condensed chromosomes from the prophase to telophase.
Domain:		The MBT repeat 2 specifically recognizes and binds monomethylated and 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. {ECO:0000269\|PubMed:18042461}.
Ptm:		Ubiquitinated in a VCP/p97-dependent way 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. {ECO:0000269\|PubMed:22120668}.
Miscellaneous:		The L3MBTL1 locus is imprinted. Paternal inherited gene is expressed, while the maternal inherited gene is silenced.
Sequence caution:		Sequence=EAW75958.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW75961.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW75962.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};