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Rabbit Anti-JHDM1D antibody
JHDM1D is a 941 amino acid protein belonging to the JHDM1 histone demethylase family. Existing as two alternatively spliced isoforms, JHDM1D contains one JmjC domain and a PHD-type zinc finger. The gene encoding JHDM1D maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
Function:
Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9' and 'Lys-27' (H3K9me2 and H3K27me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate.
Subcellular Location:
Nucleus.
Similarity:
Belongs to the JHDM1 histone demethylase family.
JHDM1D subfamily.
Contains 1 JmjC domain.
Contains 1 PHD-type zinc finger.
SWISS:
Q6ZMT4
Gene ID:
80853
Database links:
Entrez Gene: 80853 Human
SwissProt: Q6ZMT4 Human
Unigene: 308710 Human
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