Identity
HGNC
LOCATION
1q22
LOCUSID
ALIAS
ASH1,ASH1L1,KMT2H,MRD52
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55870
MIM: 607999
HGNC: 19088
Ensembl: ENSG00000116539
Variants:
dbSNP: 55870
ClinVar: 55870
TCGA: ENSG00000116539
COSMIC: ASH1L
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116539 | ENST00000368346 | Q9NR48 |
| ENSG00000116539 | ENST00000392403 | Q9NR48 |
| ENSG00000116539 | ENST00000492987 | H0YI82 |
| ENSG00000116539 | ENST00000548830 | F8VWK7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37527654 | 2023 | MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes. | 1 |
| 37805663 | 2023 | The ASH1L-AS1-ASH1L axis controls NME1-mediated activation of the RAS signaling in gastric cancer. | 2 |
| 37527654 | 2023 | MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes. | 1 |
| 37805663 | 2023 | The ASH1L-AS1-ASH1L axis controls NME1-mediated activation of the RAS signaling in gastric cancer. | 2 |
| 35147301 | 2022 | Exploration of INSM1 and hASH1 as additional markers in lung cytology samples of high-grade neuroendocrine carcinoma with indeterminate neuroendocrine differentiation. | 2 |
| 35307981 | 2022 | ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study. | 1 |
| 35147301 | 2022 | Exploration of INSM1 and hASH1 as additional markers in lung cytology samples of high-grade neuroendocrine carcinoma with indeterminate neuroendocrine differentiation. | 2 |
| 35307981 | 2022 | ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study. | 1 |
| 34373061 | 2021 | ASH1L mutation caused seizures and intellectual disability in twin sisters. | 2 |
| 34782621 | 2021 | Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures. | 20 |
| 34373061 | 2021 | ASH1L mutation caused seizures and intellectual disability in twin sisters. | 2 |
| 34782621 | 2021 | Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures. | 20 |
| 31673123 | 2020 | Mutations in ASH1L confer susceptibility to Tourette syndrome. | 25 |
| 32398261 | 2020 | Novel role of ASH1L histone methyltransferase in anaplastic thyroid carcinoma. | 15 |
| 31673123 | 2020 | Mutations in ASH1L confer susceptibility to Tourette syndrome. | 25 |
Citation
Dessen P
ASH1L (ASH1 like histone lysine methyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2007-07-01
Online version: http://atlasgeneticsoncology.org/gene/47583/ash1l-(ash1-like-histone-lysine-methyltransferase)
