Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Function:
Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.
Subcellular Location:
Nucleus. Chromosome.
Tissue Specificity:
Ubiquitously expressed.
Post-translational modifications:
May be automethylated.
Similarity:
Belongs to the histone-lysine methyltransferase family.
SET2 subfamily.
Contains 1 AWS domain.
Contains 1 post-SET domain.
Contains 1 SET domain.
Contains 1 WW domain.
SWISS:
Q9BYW2
Gene ID:
29072
Database links:
Entrez Gene: 29072 Human
Omim: 612778 Human
SwissProt: Q9BYW2 Human
Unigene: 517941 Human
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