| Protein Inhibitor Of Activated Stat1 | OKDB#: 4247 |
| Symbols: | PIAS1 | Species: | human | ||
| Synonyms: | GBP, ZMIZ3, DDXBP1, GU/RH-II, MGC141878, MGC141879,DEAD/H BOX-BINDING PROTEIN 1, DDXBP1|GU-BINDING PROTEIN, GBP | Locus: | 15q in Homo sapiens |
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| General Comment | NCBI Summary: This gene encodes a member of the mammalian PIAS [protein inhibitor of activated STAT-1 (signal transducer and activator of transcription-1)] family. This member contains a putative zinc-binding motif and a highly acidic region. It inhibits STAT1-mediated gene activation and the DNA binding activity, binds to Gu protein/RNA helicase II/DEAD box polypeptide 21, and interacts with androgen receptor (AR). It functions in testis as a nuclear receptor transcriptional coregulator and may have a role in AR initiation and maintenance of spermatogenesis. [provided by RefSeq] | ||||
| General function | Cell cycle regulation | ||||
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| Ovarian localization | Granulosa | ||||
| Comment | The forkhead transcription factor foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. Marongiu M et al. The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) and predisposes to premature ovarian failure. Inactivation of Foxl2 in mice demonstrated its indispensability for female gonadal sex determination and ovary development and revealed its antagonism of Sox9, the effector of male testis development. To help to define the regulatory activities of FOXL2, we looked for interacting proteins. Based on yeast two-hybrid screening, we found that FOXL2 interacts with PIAS1 and UBC9, both parts of the sumoylation machinery. We showed that human FOXL2 is sumoylated in transfected cell lines, and that endogenous mouse Foxl2 is comparably sumoylated. This modification changes its cellular localization, stability and transcriptional activity. It is intriguing that similar sumoylation and regulatory consequences have also been reported for SOX9, the male counterpart of FOXL2 in somatic gonadal tissues. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | March 10, 2010, 10:50 a.m. | by: |
hsueh email:
home page: |
| last update: | March 10, 2010, 10:51 a.m. | by: | hsueh email: |
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