ASH1L (ASH1 like histone lysine methyltransferase)

2007-07-01  

Identity

HGNC
ASH1L
LOCATION
1q22
LOCUSID
55870
ALIAS
ASH1,ASH1L1,KMT2H,MRD52
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55870
MIM: 607999
HGNC: 19088
Ensembl: ENSG00000116539

Variants:

dbSNP: 55870
ClinVar: 55870
TCGA: ENSG00000116539
COSMIC: ASH1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116539ENST00000368346Q9NR48
ENSG00000116539ENST00000392403Q9NR48
ENSG00000116539ENST00000492987H0YI82
ENSG00000116539ENST00000548830F8VWK7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
225410692012A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy.143
179236822007Mammalian ASH1L is a histone methyltransferase that occupies the transcribed region of active genes.72
212394972011Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism.46
271548212016ASH1L Links Histone H3 Lysine 36 Dimethylation to MLL Leukemia.38
226966822012Achaete-scute homologue-1 (ASH1) stimulates migration of lung cancer cells through Cdk5/p35 pathway.31
242441792013Ash1l methylates Lys36 of histone H3 independently of transcriptional elongation to counteract polycomb silencing.27
240195222013Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases.17
252382032015miR-142-3p down-regulation contributes to thyroid follicular tumorigenesis by targeting ASH1L and MLL1.14
260022012015Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2.14
221405342011Dual function of histone H3 lysine 36 methyltransferase ASH1 in regulation of Hox gene expression.13

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