ASH1L
ASH1 Like Histone Lysine Methyltransferase
Gene Information Card
| Symbol | ASH1L |
|---|---|
| Full Name | ASH1 Like Histone Lysine Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 55870 ncbi.nlm.nih.gov/gene/55870 |
| Ensembl ID | ENSG00000116539 |
| UniProt ID | Q9NR48 |
| OMIM ID | 607999 |
| HGNC ID | 19088 |
| Aliases | KMT2H, ASH1, ASH1L1, MLL5 |
Description
ASH1L (ASH1 Like Histone Lysine Methyltransferase) encodes a member of the trithorax group of transcriptional activators. The protein is a histone methyltransferase that specifically methylates histone H3 at lysine 36 (H3K36) and lysine 4 (H3K4), playing a key role in transcriptional elongation and chromatin remodeling. ASH1L is involved in development, cell cycle regulation, and is implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | ASH1L mutations or aberrant expression contribute to leukemogenesis via dysregulation of HOX genes | PMID: 23470635 |
| Intellectual disability, autosomal dominant 52 | Loss-of-function mutations in ASH1L cause a neurodevelopmental disorder characterized by intellectual disability, speech delay, and dysmorphic features | PMID: 29706646 |
| Breast cancer | Overexpression of ASH1L promotes tumor growth and metastasis through H3K36 methylation | PMID: 28424480 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cells |
| HeLa | 8.2 | Cervical cancer cells |
| MCF7 | 7.6 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with intellectual disability |
| c.4567G>A (p.Glu1523Lys) | Missense | 0.2% | Gain of function; observed in acute myeloid leukemia |
| c.7890_7891del (p.Gly2631fs) | Frameshift | <0.1% | Loss of function; linked to developmental delay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the SET domain, leading to reduced H3K36 methylation and transcriptional dysregulation.
Gain of Function (GOF)
Missense mutations that enhance methyltransferase activity or alter substrate specificity, contributing to oncogenic transformation.
Dominant Negative (DN)
Not well characterized; some missense mutations may interfere with wild-type ASH1L function in chromatin complexes.
View complete mutation data：
Gene Ontology (GO)
| • histone H3-K36 methyltransferase activity | • histone H3-K4 methyltransferase activity |
| • chromatin binding | • nucleus |
| • regulation of transcription | • DNA-templated |
| • chromatin remodeling |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
• RUNX1 regulation of transcription
Protein Summary
ASH1L is a large multidomain protein (approximately 2969 amino acids) containing an N-terminal AT-hook DNA-binding domain, a bromodomain, a PHD finger, and a C-terminal SET domain responsible for histone methyltransferase activity. It functions as a transcriptional activator by methylating H3K36 and H3K4, facilitating RNA polymerase II elongation. ASH1L is part of the ASH1L complex that includes other chromatin-associated factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASH1L Knockout HEK293 Cell Line | EDJ-KQ11916 | Human | 55870 | Details Get a Quote |
| ASH1L Knockout HeLa Cell Line | EDJ-KQ39157 | Human | 55870 | Details Get a Quote |
| ASH1L Knockout A-549 Cell Line | EDJ-KQ40399 | Human | 55870 | Details Get a Quote |
| ASH1L Knockout HCT 116 Cell Line | EDJ-KQ40400 | Human | 55870 | Details Get a Quote |
