Description: Homo sapiens SUZ12 polycomb repressive complex 2 subunit (SUZ12), mRNA. RefSeq Summary (NM_015355): This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]. Transcript (Including UTRs) Position: hg19 chr17:30,264,044-30,328,057 Size: 64,014 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr17:30,264,266-30,326,022 Size: 61,757 Coding Exon Count: 16
ID:SUZ12_HUMAN DESCRIPTION: RecName: Full=Polycomb protein SUZ12; AltName: Full=Chromatin precipitated E2F target 9 protein; Short=ChET 9 protein; AltName: Full=Joined to JAZF1 protein; AltName: Full=Suppressor of zeste 12 protein homolog; FUNCTION: Polycomb group (PcG) protein. Component of the PRC2/EED- EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. SUBUNIT: Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2, SUZ12, RBBP4 and RBBP7 and possibly AEBP2. The minimum components required for methyltransferase activity of the PRC2/EED-EZH2 complex are EED, EZH2 and SUZ12. Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with WDR77. Interacts with histone H1. INTERACTION: Q15156:PML-RAR; NbExp=6; IntAct=EBI-1264675, EBI-867256; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Overexpressed in breast and colon cancer. DEVELOPMENTAL STAGE: Expressed at low levels in quiescent cells. Expression rises at the G1/S phase transition. INDUCTION: Expression is induced by E2F1, E2F2 and E2F3. PTM: Sumoylated, probably by PIAS2. DISEASE: Note=A chromosomal aberration involving SUZ12 may be a cause of endometrial stromal tumors. Translocation t(7;17)(p15;q21) with JAZF1. The translocation generates the JAZF1-SUZ12 oncogene consisting of the N-terminus part of JAZF1 and the C-terminus part of SUZ12. It is frequently found in all cases of endometrial stromal tumors, except in endometrial stromal sarcomas, where it is rarer. MISCELLANEOUS: Under hypoxic conditions, the precursor SUZ12 RNA undergoes regulated trans-splicing with the JAZF1 RNA, resulting in a chimeric isoform which may be protective against apoptosis. The chimeric transcript is characterized by JAZF1 exons 1-3 joined to SUZ12 exon 2-16. The chimeric transcript is expressed primarily in the endometrium from late secretory and early proliferative phases of the menstrual cycle, but not in normal myometrium at any phase of the cycle. Its expression is slightly induced by low levels of progesterone, but suppressed by both estrogen and high levels of progesterone (PubMed:18772439). SIMILARITY: Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family. SIMILARITY: Contains 1 C2H2-type zinc finger. CAUTION: Two variants of the PRC2 complex have been described, termed PRC3 and PRC4. Each of the three complexes may include a different complement of EED isoforms, although the precise sequences of the isoforms in each complex have not been determined. The PRC2 and PRC4 complexes may also methylate 'Lys- 26' of histone H1 in addition to 'Lys-27' of histone H3 (PubMed:15099518 and PubMed:15684044), although other studies have demonstrated no methylation of 'Lys-26' of histone H1 by PRC2 (PubMed:16431907). SEQUENCE CAUTION: Sequence=BAA09931.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JJAZ1ID41039ch17q11.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF09733 - VEFS-Box of polycomb protein
ModBase Predicted Comparative 3D Structure on Q15022
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
