Human Gene ASH1L (ENST00000392403.8) from GENCODE V50

Description: ASH1 like histone lysine methyltransferase, transcript variant 2 (from RefSeq NM_018489.3)
Gencode Transcript: ENST00000392403.8
Gencode Gene: ENSG00000116539.15
Transcript (Including UTRs)
Position: hg38 chr1:155,335,268-155,562,803 Size: 227,536 Total Exon Count: 28 Strand: -
Coding Region
Position: hg38 chr1:155,337,660-155,521,519 Size: 183,860 Coding Exon Count: 27

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Methods

Data last updated at UCSC: 2026-07-12 09:30:09

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:155,335,268-155,562,803)			mRNA (may differ from genome)		Protein (2964 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	Gencode	GeneCards
HGNC	Lynx	Malacards	MGI	myGene2	OMIM
PubMed	Reactome	UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: ASH1L_HUMAN DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase ASH1L; EC=2.1.1.43; AltName: Full=ASH1-like protein; Short=huASH1; AltName: Full=Absent small and homeotic disks protein 1 homolog; AltName: Full=Lysine N-methyltransferase 2H; FUNCTION: Histone methyltransferase specifically methylating 'Lys- 36' of histone H3 (H3K36me). CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBCELLULAR LOCATION: Nucleus. Cell junction, tight junction. Chromosome (Probable). Note=The relevance of tight junction localization is however unclear. TISSUE SPECIFICITY: Widely expressed, with highest level in brain, heart and kidney. SIMILARITY: Belongs to the histone-lysine methyltransferase family. SET2 subfamily. SIMILARITY: Contains 3 A.T hook DNA-binding domains. SIMILARITY: Contains 1 AWS domain. SIMILARITY: Contains 1 BAH domain. SIMILARITY: Contains 1 bromo domain. SIMILARITY: Contains 1 PHD-type zinc finger. SIMILARITY: Contains 1 post-SET domain. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=BAA92658.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: ASH1L Diseases sorted by gene-association score: intellectual disability and/or autism spectrum disorder, ash1l-related* (100) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C023514 2,6-dinitrotoluene D013749 Tetrachlorodibenzodioxin D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide C547126 AZM551248 D000082 Acetaminophen D016604 Aflatoxin B1 D002509 Cephaloridine D002737 Chloroprene D004237 Diuron D004317 Doxorubicin more ... click here to view the complete list

RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 15.52 RPKM in Brain - Cerebellar Hemisphere Total median expression: 423.62 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-353.70	750	-0.472	Picture	PostScript	Text
3' UTR	-664.38	2392	-0.278	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR017956 - AT_hook_DNA-bd_motif
IPR006560 - AWS
IPR001025 - BAH_dom
IPR001487 - Bromodomain
IPR003616 - Post-SET_dom
IPR001214 - SET_dom
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF01426 - BAH domain
PF00439 - Bromodomain
PF00628 - PHD-finger
PF00856 - SET domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3MQM - X-ray MuPIT

3OPE - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9NR48


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
Genome Browser	Genome Browser	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details
Gene Sorter
MGI	RGD
Protein Sequence	Protein Sequence
Alignment	Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0008168 methyltransferase activity GO:0016740 transferase activity GO:0018024 histone-lysine N-methyltransferase activity GO:0042800 histone methyltransferase activity (H3-K4 specific) GO:0046872 metal ion binding GO:0046975 histone methyltransferase activity (H3-K36 specific) Biological Process: GO:0001501 skeletal system development GO:0002674 negative regulation of acute inflammatory response GO:0006323 DNA packaging GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007267 cell-cell signaling GO:0007338 single fertilization GO:0009791 post-embryonic development GO:0010468 regulation of gene expression GO:0032259 methylation GO:0032635 interleukin-6 production GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043409 negative regulation of MAPK cascade GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046697 decidualization GO:0048733 sebaceous gland development GO:0050728 negative regulation of inflammatory response GO:0051568 histone H3-K4 methylation GO:0061038 uterus morphogenesis GO:0097676 histone H3-K36 dimethylation GO:0097722 sperm motility GO:1903699 tarsal gland development GO:1903709 uterine gland development Cellular Component: GO:0005634 nucleus GO:0005654 nucleoplasm GO:0005694 chromosome GO:0005794 Golgi apparatus GO:0005923 bicellular tight junction GO:0030054 cell junction

Descriptions from all associated GenBank mRNAs


	LF383800 - JP 2014500723-A/191303: Polycomb-Associated Non-Coding RNAs. MA619377 - JP 2018138019-A/191303: Polycomb-Associated Non-Coding RNAs. AF257305 - Homo sapiens ASH1 mRNA, complete cds. BC172595 - Synthetic construct Homo sapiens clone IMAGE:100069289, MGC:199300 ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L) mRNA, encodes complete protein. LF352177 - JP 2014500723-A/159680: Polycomb-Associated Non-Coding RNAs. MA587754 - JP 2018138019-A/159680: Polycomb-Associated Non-Coding RNAs. LF352176 - JP 2014500723-A/159679: Polycomb-Associated Non-Coding RNAs. MA587753 - JP 2018138019-A/159679: Polycomb-Associated Non-Coding RNAs. LF352175 - JP 2014500723-A/159678: Polycomb-Associated Non-Coding RNAs. MA587752 - JP 2018138019-A/159678: Polycomb-Associated Non-Coding RNAs. JD308691 - Sequence 289715 from Patent EP1572962. JD214734 - Sequence 195758 from Patent EP1572962. JD239769 - Sequence 220793 from Patent EP1572962. JD131191 - Sequence 112215 from Patent EP1572962. JD527606 - Sequence 508630 from Patent EP1572962. JD467822 - Sequence 448846 from Patent EP1572962. JD115778 - Sequence 96802 from Patent EP1572962. JD284776 - Sequence 265800 from Patent EP1572962. LF352174 - JP 2014500723-A/159677: Polycomb-Associated Non-Coding RNAs. MA587751 - JP 2018138019-A/159677: Polycomb-Associated Non-Coding RNAs. JD403226 - Sequence 384250 from Patent EP1572962. JD277422 - Sequence 258446 from Patent EP1572962. JD327993 - Sequence 309017 from Patent EP1572962. LF352173 - JP 2014500723-A/159676: Polycomb-Associated Non-Coding RNAs. MA587750 - JP 2018138019-A/159676: Polycomb-Associated Non-Coding RNAs. AK304873 - Homo sapiens cDNA FLJ61208 complete cds, moderately similar to Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. LF352172 - JP 2014500723-A/159675: Polycomb-Associated Non-Coding RNAs. MA587749 - JP 2018138019-A/159675: Polycomb-Associated Non-Coding RNAs. HH834013 - Sequence 10 from Patent WO2010103015. HV533926 - WO 2011111715-A/442: Nucleic acid for controlling cell cycle. HZ408636 - JP 2015528002-A/1233: CHIRAL CONTROL. LG051970 - KR 1020150036642-A/1236: CHIRAL CONTROL. LF352171 - JP 2014500723-A/159674: Polycomb-Associated Non-Coding RNAs. MA587748 - JP 2018138019-A/159674: Polycomb-Associated Non-Coding RNAs. DQ600526 - Homo sapiens piRNA piR-38592, complete sequence. LF352168 - JP 2014500723-A/159671: Polycomb-Associated Non-Coding RNAs. MA587745 - JP 2018138019-A/159671: Polycomb-Associated Non-Coding RNAs. LF352167 - JP 2014500723-A/159670: Polycomb-Associated Non-Coding RNAs. MA587744 - JP 2018138019-A/159670: Polycomb-Associated Non-Coding RNAs. LF352166 - JP 2014500723-A/159669: Polycomb-Associated Non-Coding RNAs. MA587743 - JP 2018138019-A/159669: Polycomb-Associated Non-Coding RNAs. LF352165 - JP 2014500723-A/159668: Polycomb-Associated Non-Coding RNAs. MA587742 - JP 2018138019-A/159668: Polycomb-Associated Non-Coding RNAs. LF352162 - JP 2014500723-A/159665: Polycomb-Associated Non-Coding RNAs. MA587739 - JP 2018138019-A/159665: Polycomb-Associated Non-Coding RNAs. AB037841 - Homo sapiens KIAA1420 mRNA for KIAA1420 protein, partial cds. AB209068 - Homo sapiens mRNA for ash1 (absent, small, or homeotic)-like variant protein. LF352161 - JP 2014500723-A/159664: Polycomb-Associated Non-Coding RNAs. MA587738 - JP 2018138019-A/159664: Polycomb-Associated Non-Coding RNAs. LF352160 - JP 2014500723-A/159663: Polycomb-Associated Non-Coding RNAs. MA587737 - JP 2018138019-A/159663: Polycomb-Associated Non-Coding RNAs. LF352159 - JP 2014500723-A/159662: Polycomb-Associated Non-Coding RNAs. MA587736 - JP 2018138019-A/159662: Polycomb-Associated Non-Coding RNAs. AK307595 - Homo sapiens cDNA, FLJ97543. LF352158 - JP 2014500723-A/159661: Polycomb-Associated Non-Coding RNAs. MA587735 - JP 2018138019-A/159661: Polycomb-Associated Non-Coding RNAs. LF352157 - JP 2014500723-A/159660: Polycomb-Associated Non-Coding RNAs. MA587734 - JP 2018138019-A/159660: Polycomb-Associated Non-Coding RNAs. LF352156 - JP 2014500723-A/159659: Polycomb-Associated Non-Coding RNAs. MA587733 - JP 2018138019-A/159659: Polycomb-Associated Non-Coding RNAs. LF352155 - JP 2014500723-A/159658: Polycomb-Associated Non-Coding RNAs. MA587732 - JP 2018138019-A/159658: Polycomb-Associated Non-Coding RNAs. LF352154 - JP 2014500723-A/159657: Polycomb-Associated Non-Coding RNAs. MA587731 - JP 2018138019-A/159657: Polycomb-Associated Non-Coding RNAs. LF352153 - JP 2014500723-A/159656: Polycomb-Associated Non-Coding RNAs. MA587730 - JP 2018138019-A/159656: Polycomb-Associated Non-Coding RNAs. LF352152 - JP 2014500723-A/159655: Polycomb-Associated Non-Coding RNAs. MA587729 - JP 2018138019-A/159655: Polycomb-Associated Non-Coding RNAs. LF352151 - JP 2014500723-A/159654: Polycomb-Associated Non-Coding RNAs. MA587728 - JP 2018138019-A/159654: Polycomb-Associated Non-Coding RNAs. LF352150 - JP 2014500723-A/159653: Polycomb-Associated Non-Coding RNAs. MA587727 - JP 2018138019-A/159653: Polycomb-Associated Non-Coding RNAs. LF352149 - JP 2014500723-A/159652: Polycomb-Associated Non-Coding RNAs. MA587726 - JP 2018138019-A/159652: Polycomb-Associated Non-Coding RNAs. JD365681 - Sequence 346705 from Patent EP1572962. JD460391 - Sequence 441415 from Patent EP1572962. JD402197 - Sequence 383221 from Patent EP1572962. JD394372 - Sequence 375396 from Patent EP1572962. JD200344 - Sequence 181368 from Patent EP1572962. JD200352 - Sequence 181376 from Patent EP1572962. JD272537 - Sequence 253561 from Patent EP1572962. JD200351 - Sequence 181375 from Patent EP1572962. JD272536 - Sequence 253560 from Patent EP1572962. JD200349 - Sequence 181373 from Patent EP1572962. JD479949 - Sequence 460973 from Patent EP1572962. JD200339 - Sequence 181363 from Patent EP1572962.

Biochemical and Signaling Pathways


	KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00310 - Lysine degradation hsa04530 - Tight junction Reactome (by CSHL, EBI, and GO) Protein Q9NR48 (Reactome details) participates in the following event(s): R-HSA-4827383 WHSC1 (KMT3G), NSD1 (KMT3B), SMYD2 (KMT3C) methylate lysine-37 of histone H3 (H3K36) R-HSA-5638157 WHSC1 (KMT3G), NSD1 (KMT3B), SMYD2 (KMT3C), ASH1L methylate methyl-lysine-37 of histone H3 (H3K36) R-HSA-3214841 PKMTs methylate histone lysines R-HSA-3247509 Chromatin modifying enzymes R-HSA-4839726 Chromatin organization

Other Names for This Gene


	Alternate Gene Symbols: ASH1L_HUMAN, ENST00000392403.1, ENST00000392403.2, ENST00000392403.3, ENST00000392403.4, ENST00000392403.5, ENST00000392403.6, ENST00000392403.7, KIAA1420, KMT2H, NM_018489, Q59GP1, Q5T714, Q5T715, Q9NR48, Q9P2C7, uc001fkt.1, uc001fkt.2, uc001fkt.3, uc001fkt.4, uc001fkt.5 UCSC ID: ENST00000392403.8 RefSeq Accession: NM_018489.3 Protein: Q9NR48 (aka ASH1L_HUMAN) CCDS: CCDS1113.2

Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.

GNF Expression Atlas 2 Data from U133A and GNF1H Chips