InnateDB Protein
|
IDBP-39779.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SUZ12
|
Protein Name
|
suppressor of zeste 12 homolog (Drosophila)
|
Synonyms
|
CHET9; JJAZ1;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000316578
|
InnateDB Gene
|
IDBG-39777 (SUZ12)
|
Protein Structure
|
|
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. {ECO:0000269PubMed:15225548, ECO:0000269PubMed:15231737, ECO:0000269PubMed:15385962, ECO:0000269PubMed:16618801, ECO:0000269PubMed:17344414, ECO:0000269PubMed:18285464}.
|
Subcellular Localization |
Nucleus {ECO:0000269PubMed:15231737}.
|
Disease Associations |
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. {ECO:0000269PubMed:11371647}.
|
Tissue Specificity |
Overexpressed in breast and colon cancer. {ECO:0000269PubMed:15231737, ECO:0000269PubMed:15684044}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 370 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated |
Total |
370
[view]
|
Protein-Protein |
362
[view]
|
Protein-DNA |
8
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
14 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR019135
Polycomb protein, VEFS-Box
|
PFAM |
PF09733
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q15022
|
PhosphoSite |
PhosphoSite-Q15022
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
23512
|
UniGene |
Hs.743593
|
RefSeq |
NP_056170
|
HUGO |
HGNC:17101
|
OMIM |
606245
|
CCDS |
CCDS11270
|
HPRD |
06949
|
IMGT |
|
EMBL |
BC015704
D63881
|
GenPept |
AAH15704
BAA09931
|
|
|