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.
Protein type: Amino Acid Metabolism - lysine degradation; Cell adhesion; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine
Chromosomal Location of human Ortholog: 1q22
Cellular Component:  bicellular tight junction; chromosome; Golgi apparatus; nucleoplasm; nucleus
Molecular Function:  chromatin binding; DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase activity (H3-K36 specific); histone methyltransferase activity (H3-K4 specific); histone methyltransferase activity (H3-K9 specific); metal ion binding
Biological Process:  cell-cell signaling; decidualization; DNA packaging; flagellated sperm motility; histone H3-K36 dimethylation; histone H3-K4 methylation; histone H3-K9 methylation; interleukin-6 production; 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; single fertilization; skeletal system development; tarsal gland development; transcription by RNA polymerase II; uterine gland development; uterus morphogenesis
Disease: Mental Retardation, Autosomal Dominant 52
Reference #:  Q9NR48 (UniProtKB)
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
Gene Symbols: ASH1L
Molecular weight: 332,790 Da
Basal Isoelectric point: 9.46  Predict pI for various phosphorylation states
CST Pathways:  Histone Methylation
Select Structure to View Below

ASH1L

Protein Structure Not Found.


Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene