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ASH1L
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The physiological significance of the H3K9me1 activity is unclear. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. Widely expressed, with highest level in brain, heart and kidney. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Amino Acid Metabolism - lysine degradation; Cell adhesion; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine |
| Chromosomal Location of human Ortholog: 1q22 |
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Cellular Component:
bicellular tight junction; chromosome; Golgi apparatus; nucleoplasm; nucleus
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Molecular Function:
chromatin binding; DNA binding; histone H3K36 methyltransferase activity; histone H3K36 trimethyltransferase activity; histone H3K4 methyltransferase activity; histone H3K9 methyltransferase activity; histone H3K9 monomethyltransferase activity; histone H3K9me2 methyltransferase activity; metal ion binding
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Biological Process:
chromatin remodeling; decidualization; flagellated sperm motility; histone H3-K36 dimethylation; I-kappaB kinase/NF-kappaB signaling; inflammatory response; MAPK cascade; negative regulation of acute inflammatory response; negative regulation of I-kappaB kinase/NF-kappaB signaling; negative regulation of MAPK cascade; positive regulation of transcription by RNA polymerase II; post-embryonic development; regulation of DNA-templated transcription; single fertilization; skeletal system development; tarsal gland development; transcription by RNA polymerase II; uterine gland development; uterus morphogenesis
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Disease: Mental Retardation, Autosomal Dominant 52
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Reference #:
Q9NR48
(UniProtKB)
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Alt. Names/Synonyms: Absent small and homeotic disks protein 1 homolog; ASH1; ash1 (absent, small, or homeotic)-like; ash1 (absent, small, or homeotic)-like (Drosophila); ASH1 like histone lysine methyltransferase; ASH1-like protein; ASH1L; ASH1L1; FLJ10504; Histone-lysine N-methyltransferase ASH1L; huASH1; KIAA1420; KMT2H; Lysine N-methyltransferase 2H; MRD52; Probable histone-lysine N-methyltransferase ASH1L
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Gene Symbols: ASH1L
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Molecular weight:
332,790 Da
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Basal Isoelectric point:
9.46
Predict pI for various phosphorylation states
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CST Pathways:
Histone Methylation
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