This gene encodes a member of the PRDI-SF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]
Function:
Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of emryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression (By similarity). Directly up-regulates the expression of pluripotency gene POU5F1 through its proximal enhancer. Binds to the DNA consensus sequence 5'-GGTC[TC]CTAA-3'.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in embryonic stem cells. Tends to be overexpressed in breast cancer (at protein level).
Similarity:
Contains 6 C2H2-type zinc fingers.
Contains 1 SET domain.
SWISS:
Q9GZV8
Gene ID:
63978
Database links:
Entrez Gene: 100140032 Cow
Entrez Gene: 486988 Dog
Entrez Gene: 63978 Human
Entrez Gene: 383491 Mouse
Entrez Gene: 100519142 Pig
Entrez Gene: 297769 Rat
Omim: 611781 Human
SwissProt: Q9GZV8 Human
SwissProt: E9Q3T6 Mouse
Unigene: 287532 Human
Unigene: 309380 Mouse
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