ASH1L information

ASH1L
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3MQM, 3OPE, 4YNM, 4YNP, 4YPA, 4YPE, 4YPU
Identifiers
Aliases	ASH1L, ASH1, ASH1L1, KMT2H, ASH1 like histone lysine methyltransferase, MRD52
External IDs	OMIM: 607999; MGI: 2183158; HomoloGene: 10225; GeneCards: ASH1L; OMA:ASH1L - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	155,563,162 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	88,986,682 bp
RNA expression pattern
	Top expressed in
	Brodmann area 23; ; pylorus; ; cardia; ; cerebellar vermis; ; middle temporal gyrus; ; nipple; ; postcentral gyrus; ; visceral pleura; ; renal medulla; ; endothelial cell;
	Top expressed in
	ciliary body; ; Rostral migratory stream; ; aortic valve; ; ascending aorta; ; lateral septal nucleus; ; retinal pigment epithelium; ; cingulate gyrus; ; cerebellar vermis; ; anterior amygdaloid area; ; lobe of cerebellum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	methyltransferase activity; transferase activity; DNA binding; chromatin binding; histone methyltransferase activity (H3-K4 specific); metal ion binding; histone methyltransferase activity (H3-K36 specific); histone-lysine N-methyltransferase activity; DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase activity (H3-K9 specific);
Cellular component	Golgi apparatus; bicellular tight junction; chromosome; cell junction; nucleus; nucleoplasm;
Biological process	regulation of transcription, DNA-templated; negative regulation of acute inflammatory response; histone H3-K36 dimethylation; interleukin-6 production; cell-cell signaling; transcription by RNA polymerase II; negative regulation of I-kappaB kinase/NF-kappaB signaling; transcription, DNA-templated; histone H3-K4 methylation; methylation; negative regulation of MAPK cascade; negative regulation of inflammatory response; positive regulation of transcription by RNA polymerase II; skeletal system development; single fertilization; post-embryonic development; regulation of gene expression; decidualization; sebaceous gland development; uterus morphogenesis; sperm motility; tarsal gland development; uterine gland development; chromatin organization; flagellated sperm motility; histone H3-K9 methylation;
	Sources:Amigo / QuickGO
Orthologs
	55870
	192195
	ENSG00000116539
	ENSMUSG00000028053
	Q9NR48
	Q99MY8
	NM_018489; NM_001366177
	NM_138679
	NP_060959; NP_001353106
	NP_619620
	Wikidata
View/Edit Human	View/Edit Mouse

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).

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116539 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028053 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116539 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028053 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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