UniProt functional annotation for Q02395



	UniProt functional annotation for Q02395

UniProt code: Q02395.

Organism: Mus musculus (Mouse).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.

Function: Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity (PubMed:20144788, PubMed:21367819, PubMed:21059868, PubMed:23104054, PubMed:22438827). Regulates the transcriptional networks during embryonic stem cell self- renewal and differentiation (PubMed:20144788). Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells (PubMed:21367819). Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex (PubMed:21059868). In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally (PubMed:21059868). Binds to the metal-regulating-element (MRE) of MT1A gene promoter (PubMed:7772254). {ECO:0000269|PubMed:20144788, ECO:0000269|PubMed:21059868, ECO:0000269|PubMed:21367819, ECO:0000269|PubMed:22438827, ECO:0000269|PubMed:23104054, ECO:0000269|PubMed:7772254}.

Subunit: Associates with the PRC2 complex, which consists of the core components EED, EZH1 or EZH2, SUZ12, and RBBP4, and various combinations of accessory subunits including AEBP2, JARID2, PHF19, MTF2 and EPOP (PubMed:21367819, PubMed:22438827). Forms a dimeric PRC2.1 (class 1, PRC-PCL) complex consisting of at least SUZ12, RBBP4, and PHF19 or MTF2; PHF19 and MTF2 stabilize the dimeric structure which enhances PRC2 interaction with chromatin (By similarity). {ECO:0000250|UniProtKB:Q9Y483, ECO:0000269|PubMed:21367819, ECO:0000269|PubMed:22438827}.

Subcellular location: Nucleus {ECO:0000269|PubMed:21367819}. Note=Localizes to chromatin as part of the PRC2 complex. {ECO:0000269|PubMed:21367819}.

Domain: The Tudor domain recognizes and binds H3K36me3. {ECO:0000269|PubMed:23104054}.

Disruption phenotype: Mice survive to birth; however, most of them die before weaning. Axial skeletal alterations that are characteristic of posterior transformations are observed: ectopic ribs that associate with the seventh cervical vertebra (C7) are frequently observed. Consistent with this malformation, sternums are shifted anteriorly. The odontoid process, which is normally a characteristic of the second cervical vertebra (C2), is frequently associated with the first cervical vertebra (C1). {ECO:0000269|PubMed:21059868}.

Similarity: Belongs to the Polycomblike family. {ECO:0000305}.

Sequence caution: Sequence=AAH24889.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH29076.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Mus musculus (Mouse).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.



Function:		Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity (PubMed:20144788, PubMed:21367819, PubMed:21059868, PubMed:23104054, PubMed:22438827). Regulates the transcriptional networks during embryonic stem cell self- renewal and differentiation (PubMed:20144788). Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells (PubMed:21367819). Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex (PubMed:21059868). In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally (PubMed:21059868). Binds to the metal-regulating-element (MRE) of MT1A gene promoter (PubMed:7772254). {ECO:0000269\|PubMed:20144788, ECO:0000269\|PubMed:21059868, ECO:0000269\|PubMed:21367819, ECO:0000269\|PubMed:22438827, ECO:0000269\|PubMed:23104054, ECO:0000269\|PubMed:7772254}.


Subunit:		Associates with the PRC2 complex, which consists of the core components EED, EZH1 or EZH2, SUZ12, and RBBP4, and various combinations of accessory subunits including AEBP2, JARID2, PHF19, MTF2 and EPOP (PubMed:21367819, PubMed:22438827). Forms a dimeric PRC2.1 (class 1, PRC-PCL) complex consisting of at least SUZ12, RBBP4, and PHF19 or MTF2; PHF19 and MTF2 stabilize the dimeric structure which enhances PRC2 interaction with chromatin (By similarity). {ECO:0000250\|UniProtKB:Q9Y483, ECO:0000269\|PubMed:21367819, ECO:0000269\|PubMed:22438827}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:21367819}. Note=Localizes to chromatin as part of the PRC2 complex. {ECO:0000269\|PubMed:21367819}.
Domain:		The Tudor domain recognizes and binds H3K36me3. {ECO:0000269\|PubMed:23104054}.
Disruption phenotype:		Mice survive to birth; however, most of them die before weaning. Axial skeletal alterations that are characteristic of posterior transformations are observed: ectopic ribs that associate with the seventh cervical vertebra (C7) are frequently observed. Consistent with this malformation, sternums are shifted anteriorly. The odontoid process, which is normally a characteristic of the second cervical vertebra (C2), is frequently associated with the first cervical vertebra (C1). {ECO:0000269\|PubMed:21059868}.
Similarity:		Belongs to the Polycomblike family. {ECO:0000305}.
Sequence caution:		Sequence=AAH24889.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH29076.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};