| Gene Symbol |
PLAG1
|
| Entrez Gene |
5324
|
| Alt Symbol |
PSA, SGPA, ZNF912
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
pleiomorphic adenoma gene 1
|
| Other Description |
COL1A2/PLAG1 fusion|zinc finger protein PLAG1
|
| Swissprots |
Q9Y4L2 B4DLC2 Q59GH8 Q6DJT9
|
| Accessions |
CAB42491 EAW86774 EAW86775 Q6DJT9 AB209131 BAD92368 AF221549 AF221550 AK296933 BAG59484 AK313663 BAG36415 BC075047 AAH75047 BC075048 AAH75048 DA225321 DC347559 EF525168 EF525169 EF525170 ABW87255 EU446900 ABZ92429 U65002 AAC50995 U78783 XM_005251260 XP_005251317 XM_011517544 XP_011515846 NM_001114634 NP_001108106 NM_001114635 NP_001108107 NM_002655 NP_002646
|
| Function |
Transcription factor whose activation results in up- regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia. {ECO:0000269|PubMed:11888928, ECO:0000269|PubMed:14695992, ECO:0000269|PubMed:14712223}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:10646861, ECO:0000269|PubMed:11882654, ECO:0000269|PubMed:16207715}. Note=Strong nucleolar localization when sumoylation is inhibited.
|
| Tissue Specificity |
Expressed in fetal tissues such as lung, liver and kidney. Not detected or weak detection in normal adult tissues, but highly expressed in salivary gland with benign or malignant pleiomorphic adenomas with or without 8q12 aberrations, with preferential occurrence in benign tumors. {ECO:0000269|PubMed:10029085, ECO:0000269|PubMed:14695992, ECO:0000269|PubMed:9020842, ECO:0000269|PubMed:9722527}.
|