UniProt functional annotation for Q92833



	UniProt functional annotation for Q92833

UniProt code: Q92833.

Organism: Homo sapiens (Human).

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

Function: Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557). Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857). In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases (By similarity). Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity). Participates in the negative regulation of cell proliferation signaling (By similarity). Does not have histone demethylase activity (By similarity). {ECO:0000250|UniProtKB:Q62315, ECO:0000269|PubMed:20075857, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.

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:29499137, PubMed:31959557). Found in a monomeric PRC2.2 (class 2) complex consisting of at least SUZ12, RBBP4, AEBP2 and JARID2 (PubMed:29499137). Faciliates nucleosome binding of the PRC2 complex (PubMed:29499137). Interacts with SUZ12 (via C2H2-type zinc finger domain); the interaction is direct; competes with EPOP for SUZ12 binding (PubMed:29499137). Interacts with histone methyltransferases EHMT1/GLP1 and EHMT2/G9a (By similarity). Interacts with GATA4 (via the N-terminal region) (By similarity). Interacts with NKX2-5 (via the C- terminal region) (By similarity). Interacts with RB1 (By similarity). Interacts with ZNF496 (By similarity). Interacts with ESRRB (By similarity). {ECO:0000250|UniProtKB:Q62315, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.

Subcellular location: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:20075857, ECO:0000269|PubMed:29499137}. Note=Colocalizes with the PRC2 complex on chromatin. {ECO:0000269|PubMed:29499137}.

Tissue specificity: During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells.

Domain: The ARID domain is required to target the PRC2 complex to its target genes. {ECO:0000250}.

Domain: The GSGFP motif is required for the interaction with SUZ12. {ECO:0000250}.

Sequence caution: Sequence=AAC50822.1; Type=Frameshift; 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:		Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557). Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857). In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases (By similarity). Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity). Participates in the negative regulation of cell proliferation signaling (By similarity). Does not have histone demethylase activity (By similarity). {ECO:0000250\|UniProtKB:Q62315, ECO:0000269\|PubMed:20075857, ECO:0000269\|PubMed:29499137, ECO:0000269\|PubMed:31959557}.


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:29499137, PubMed:31959557). Found in a monomeric PRC2.2 (class 2) complex consisting of at least SUZ12, RBBP4, AEBP2 and JARID2 (PubMed:29499137). Faciliates nucleosome binding of the PRC2 complex (PubMed:29499137). Interacts with SUZ12 (via C2H2-type zinc finger domain); the interaction is direct; competes with EPOP for SUZ12 binding (PubMed:29499137). Interacts with histone methyltransferases EHMT1/GLP1 and EHMT2/G9a (By similarity). Interacts with GATA4 (via the N-terminal region) (By similarity). Interacts with NKX2-5 (via the C- terminal region) (By similarity). Interacts with RB1 (By similarity). Interacts with ZNF496 (By similarity). Interacts with ESRRB (By similarity). {ECO:0000250\|UniProtKB:Q62315, ECO:0000269\|PubMed:29499137, ECO:0000269\|PubMed:31959557}.
Subcellular location:		Nucleus {ECO:0000255\|PROSITE-ProRule:PRU00355, ECO:0000255\|PROSITE-ProRule:PRU00537, ECO:0000269\|PubMed:20075857, ECO:0000269\|PubMed:29499137}. Note=Colocalizes with the PRC2 complex on chromatin. {ECO:0000269\|PubMed:29499137}.
Tissue specificity:		During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells.
Domain:		The ARID domain is required to target the PRC2 complex to its target genes. {ECO:0000250}.
Domain:		The GSGFP motif is required for the interaction with SUZ12. {ECO:0000250}.
Sequence caution:		Sequence=AAC50822.1; Type=Frameshift; Evidence={ECO:0000305};