The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
Function:
Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes.
Subunit:
Interacts with EHMT2/G9A, GFI1 and HDAC1.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed with highest levels in colon and ovary. Tends to be silenced in breast, colorectal, gastric and liver cancer tissues.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.
Similarity:
Contains 16 C2H2-type zinc fingers.
Contains 1 SET domain.
SWISS:
Q9NQX1
Gene ID:
11107
Database links:
Entrez Gene: 11107 Human
Entrez Gene: 70779 Mouse
Entrez Gene: 689788 Rat
Omim: 614161 Human
SwissProt: Q9NQX1 Human
SwissProt: Q9CXE0 Mouse
Unigene: 666782 Human
Unigene: 669312 Human
Unigene: 263355 Mouse
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