This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved SLCterminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
Function:
Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas.
Similarity:
Belongs to the class SLVlike SAM-binding methyltransferase superfamily.
Histone-lysine methyltransferase family. TRX/MLL subfamily.
Contains 3 A.T hook DNA-binding domains.
Contains 1 CXXSLCtype zinc finger.
Contains 1 FYR SLCterminal domain.
Contains 1 FYR N-terminal domain.
Contains 3 PHD-type zinc fingers.
Contains 1 post-SET domain.
Contains 1 SET domain.
SWISS:
Q9UMN6
Gene ID:
9757
Database links:
Entrez Gene: 9757 Human
Entrez Gene: 538698 Cow
Entrez Gene: 75410 Mouse
Entrez Gene: 361543 Rat
Omim: 606834 Human
SwissProt: Q9UMN6 Human
SwissProt: O08550 Mouse
Unigene: 676457 Human
Unigene: 92236 Human
Unigene: 168688 Mouse
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