ASH1L
Sign in to saveAlso known as ASH1, ASH1L1, KMT2H, ASH1 like histone lysine methyltransferase, MRD52
ASH1L (also called huASH1, ASH1, ASH1L1, ASH1-like, or KMT2H) is a histone-lysine N-methyltransferase enzyme encoded by the ASH1L gene located at chromosomal band 1q22. ASH1L is the human homolog of Drosophila Ash1 (absent, small, or homeotic-like).
Gene data
ASH1L- Name
- ASH1 like histone lysine methyltransferase
- Type
- protein-coding
- Position
- 155,335,268–155,563,162 (−)
- Aliases
- ASH1, ASH1L1, KMT2H, MRD52
- Ensembl
- ENSG00000116539
- RefSeq RNA
- NM_001366177.2, NM_018489.3, XM_005245337.6, XM_006711450.4, XM_006711451.4
- RefSeq protein
- NP_001353106.1, NP_060959.2, XP_005245394.1, XP_006711513.1, XP_006711514.1
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ASH1 like histone lysine methyltransferase
- Symbol
- ASH1L
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:155,335,268-155,563,162
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 10225
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/55870
- genomic end
- 155563162
- genomic start
- 155305059
- chromosome
- human chromosome 1
- cytogenetic location
- 1q22
via Wikidata · CC0
~6 min read
Encyclopedic overview
8 sectionsContents
- Gene
- Structure
- Protein expression patterns and timing
- Function
- Role in human disease
- References
- Further reading
- External links
ASH1L (also called huASH1, ASH1, ASH1L1, ASH1-like, or KMT2H) is a histone-lysine N-methyltransferase enzyme encoded by the ASH1L gene located at chromosomal band 1q22. ASH1L is the human homolog of Drosophila Ash1 (absent, small, or homeotic-like).
== Gene == Ash1 was discovered as a gene causing an imaginal disc mutant phenotype in Drosophila. Ash1 is a member of the trithorax-group (trxG) of proteins, a group of transcriptional activators that are involved in regulating Hox gene expression and body segment identity. Drosophila Ash1 interacts with trithorax to regulate ultrabithorax expression.
Excerpted from Wikipedia’s “ASH1L” article, available under the CC BY-SA 4.0 licence.