Entity Details

Primary name ASH1L
Entity type gene
Source Source Link

Details

PrimaryID55870
RefseqGene
SymbolASH1L
NameASH1 like histone lysine methyltransferase
Chromosome1
Location1q22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsASH1L_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0002674 negative regulation of acute inflammatory response
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005794 Golgi apparatus
GO:0005923 bicellular tight junction
GO:0007338 single fertilization
GO:0009791 post-embryonic development
GO:0030317 flagellated sperm motility
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043409 negative regulation of MAPK cascade
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046697 decidualization
GO:0046872 metal ion binding
GO:0046974 histone methyltransferase activity (H3-K9 specific)
GO:0046975 histone methyltransferase activity (H3-K36 specific)
GO:0061038 uterus morphogenesis
GO:0097676 histone H3-K36 dimethylation
GO:1903699 tarsal gland development
GO:1903709 uterine gland development

Diseases

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Disease IDSourceNameDescription
617796 OMIMMental retardation, autosomal dominant 52 (MRD52)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.