DPY-30 is a 99 amino acid nuclear protein that is a component of MLL-containing complexes, including the ASCOM, MLL, MLL2/MLL3 and MLL3/MLL4 complexes. The gene that encodes DPY-30 maps to human chromosome 2, which is the second largest human chromosome, consisting of 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr鰉 syndrome is due to mutations in the ALMS1 gene.
Function:
As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May also play an indirect or direct role in endosomal transport.
Subcellular Location:
Nucleus. Golgi apparatus > trans-Golgi network.
Similarity:
Belongs to the dpy-30 family.
SWISS:
Q9C005
Gene ID:
84661
Database links:
Entrez Gene: 84661 Human
Entrez Gene: 66310 Mouse
Omim: 612032 Human
SwissProt: Q9C005 Human
SwissProt: Q99LT0 Mouse
Unigene: 531788 Human
Unigene: 28536 Mouse
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