ASH1L (ASH1 like histone lysine methyltransferase)

2007-07-01 Affiliation

Identity

HGNC

ASH1L

LOCATION

1q22

LOCUSID

55870

ALIAS

ASH1,ASH1L1,KMT2H,MRD52

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
PKMTs methylate histone lysines	REACTOME	R-HSA-3214841

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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