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chromosomal translocation t(7;8)(p22;q13)
Chromosomal translocation t(7;8)(p22;q13) involving PLAG1 with COL1A2 may be a cause of lipoblastoma.
Fusion transcript COL1A2-PLAG1 as well as HAS2-PLAG1 encode a full-length PLAG1 protein.
Properties
GENERAL: chromosomal translocation
FORM: t(7;8)(p22;q13)
LOCUS: human chromosome-7 P22
human chromosome-8 Q13
ABERRANT-GENE: zinc finger protein PLAG1
COMPARTMENT: cell nucleus
MOTIF: KPNA2 interaction {2-84}
MOTIF: nuclear translocation signal {22-25}
Zn finger C2H2-type
SITE: 34-56
EFFECTOR-BOUND: Zn+2
zinc fingers {41-242}
MOTIF: Zn finger C2H2-type
SITE: 62-86
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 92-114
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 121-143
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 150-172
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 185-207
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 213-236
EFFECTOR-BOUND: Zn+2
transcriptional activation {243-500}
MOTIF: 3 sumoylation motifs {243-384}
Massive activation {385-500}
Col1a2
References
- UniProt :accession Q6DJT9
- UniProt :accession P08123