Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASH1L Gene

Aliases for ASH1L Gene

  • ASH1 Like Histone Lysine Methyltransferase 2 3 5
  • Absent Small And Homeotic Disks Protein 1 Homolog 3 4
  • Lysine N-Methyltransferase 2H 3 4
  • ASH1-Like Protein 3 4
  • EC 2.1.1.43 4 61
  • KMT2H 3 4
  • Ash1 (Absent, Small, Or Homeotic)-Like (Drosophila) 2
  • Probable Histone-Lysine N-Methyltransferase ASH1L 3
  • Histone-Lysine N-Methyltransferase ASH1L 3
  • Ash1 (Absent, Small, Or Homeotic)-Like 3
  • KIAA1420 4
  • ASH1L1 3
  • HuASH1 4
  • ASH1 3

External Ids for ASH1L Gene

Previous GeneCards Identifiers for ASH1L Gene

  • GC01M152084
  • GC01M152523
  • GC01M152119
  • GC01M153571
  • GC01M155305
  • GC01M126666

Summaries for ASH1L Gene

Entrez Gene Summary for ASH1L Gene

  • This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASH1L Gene

ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with ASH1L include Intellectual Disability And/Or Autism Spectrum Disorder, Ash1l-Related and Dental Pulp Disease. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. GO annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is SETD2.

UniProtKB/Swiss-Prot for ASH1L Gene

  • Histone methyltransferase specifically methylating Lys-36 of histone H3 (H3K36me).

Gene Wiki entry for ASH1L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASH1L Gene

Genomics for ASH1L Gene

Regulatory Elements for ASH1L Gene

Enhancers for ASH1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G155242 1.5 ENCODE dbSUPER 56.5 +318.6 318608 2.9 CREB3L1 FEZF1 YBX1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 TBX21 KIAA0907 ENSG00000271267 RUSC1-AS1 MSTO2P ASH1L THBS3 PYGO2 LOC101928120 GBA BGLAP
GH01G155222 1.5 ENCODE dbSUPER 37.4 +337.1 337120 5.9 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 KIAA0907 ENSG00000271267 MSTO2P THBS3 GBAP1 ASH1L LOC101928120 PYGO2 RUSC1-AS1 HCN3
GH01G156111 1.9 FANTOM5 ENCODE dbSUPER 25.6 -558.5 -558540 19.4 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF416 ZNF143 KIAA0907 MSTO2P ENSG00000271267 RRNAD1 LMNA ASH1L BGLAP LOC246784 SYT11 MEX3A
GH01G155687 1.4 ENCODE dbSUPER 28.2 -126.4 -126384 3.3 HDGF CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ASH1L KIAA0907 YY1AP1 SYT11 PYGO2 GBA ENSG00000271267 DAP3 ENSG00000231064 MSTO2P
GH01G155937 2 FANTOM5 Ensembl ENCODE dbSUPER 18.3 -380.4 -380370 10.9 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC RIT1 ASH1L ARHGEF2 PYGO2 LOC107985210 SNORA80E LAMTOR2 UBQLN4 MSTO2P MEX3A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASH1L on UCSC Golden Path with GeneCards custom track

Promoters for ASH1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014086 50 3601 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for ASH1L Gene

Chromosome:
1
Start:
155,335,261 bp from pter
End:
155,562,850 bp from pter
Size:
227,590 bases
Orientation:
Minus strand

Genomic View for ASH1L Gene

Genes around ASH1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASH1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASH1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASH1L Gene

Proteins for ASH1L Gene

  • Protein details for ASH1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR48-ASH1L_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase ASH1L
    Protein Accession:
    Q9NR48
    Secondary Accessions:
    • Q59GP1
    • Q5T714
    • Q5T715
    • Q9P2C7

    Protein attributes for ASH1L Gene

    Size:
    2969 amino acids
    Molecular mass:
    332790 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92658.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASH1L Gene

    Alternative splice isoforms for ASH1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASH1L Gene

Selected DME Specific Peptides for ASH1L Gene

Q9NR48:
  • NHSCDPN
  • QKWSVNG

Post-translational modifications for ASH1L Gene

  • Ubiquitination at Lys402 and Lys406
  • Modification sites at PhosphoSitePlus

Domains & Families for ASH1L Gene

Suggested Antigen Peptide Sequences for ASH1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR48

UniProtKB/Swiss-Prot:

ASH1L_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
genes like me logo Genes that share domains with ASH1L: view

Function for ASH1L Gene

Molecular function for ASH1L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Histone methyltransferase specifically methylating Lys-36 of histone H3 (H3K36me).

Enzyme Numbers (IUBMB) for ASH1L Gene

Gene Ontology (GO) - Molecular Function for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ASH1L: view
genes like me logo Genes that share phenotypes with ASH1L: view

Animal Models for ASH1L Gene

MGI Knock Outs for ASH1L:

Animal Model Products

CRISPR Products

miRNA for ASH1L Gene

miRTarBase miRNAs that target ASH1L

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ASH1L

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASH1L Gene

Localization for ASH1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASH1L Gene

Nucleus. Cell junction, tight junction. Chromosome. Note=The relevance of tight junction localization is however unclear.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASH1L gene
Compartment Confidence
extracellular 5
nucleus 5
golgi apparatus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10860993
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005923 bicellular tight junction TAS,IEA --
genes like me logo Genes that share ontologies with ASH1L: view

Pathways & Interactions for ASH1L Gene

genes like me logo Genes that share pathways with ASH1L: view

Pathways by source for ASH1L Gene

1 BioSystems pathway for ASH1L Gene
1 KEGG pathway for ASH1L Gene

Gene Ontology (GO) - Biological Process for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0002674 negative regulation of acute inflammatory response IEA --
GO:0006323 DNA packaging TAS 10860993
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ASH1L: view

No data available for SIGNOR curated interactions for ASH1L Gene

Drugs & Compounds for ASH1L Gene

(2) Drugs for ASH1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with ASH1L: view

Transcripts for ASH1L Gene

Unigene Clusters for ASH1L Gene

Ash1 (absent, small, or homeotic)-like (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ASH1L

Alternative Splicing Database (ASD) splice patterns (SP) for ASH1L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:

ExUns: 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28a · 28b ^ 29
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for ASH1L Gene

GeneLoc Exon Structure for
ASH1L
ECgene alternative splicing isoforms for
ASH1L

Expression for ASH1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASH1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASH1L Gene

This gene is overexpressed in Fetal Brain (53.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASH1L Gene



Protein tissue co-expression partners for ASH1L Gene

NURSA nuclear receptor signaling pathways regulating expression of ASH1L Gene:

ASH1L

SOURCE GeneReport for Unigene cluster for ASH1L Gene:

Hs.491060

mRNA Expression by UniProt/SwissProt for ASH1L Gene:

Q9NR48-ASH1L_HUMAN
Tissue specificity: Widely expressed, with highest level in brain, heart and kidney.

Evidence on tissue expression from TISSUES for ASH1L Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ASH1L: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASH1L Gene

Orthologs for ASH1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ASH1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASH1L 34 35
  • 99.75 (n)
cow
(Bos Taurus)
Mammalia ASH1L 34 35
  • 93.68 (n)
dog
(Canis familiaris)
Mammalia ASH1L 34 35
  • 91.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASH1L 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ash1l 34
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Ash1l 34 16 35
  • 89.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ASH1L 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASH1L 35 34
  • 75.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASH1L 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20154 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4459 34
zebrafish
(Danio rerio)
Actinopterygii ash1l 35
  • 48 (a)
OneToOne
wufi34d11 34
fruit fly
(Drosophila melanogaster)
Insecta ash1 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-25 35
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BYE1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2897 34
Species where no ortholog for ASH1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASH1L Gene

ENSEMBL:
Gene Tree for ASH1L (if available)
TreeFam:
Gene Tree for ASH1L (if available)

Paralogs for ASH1L Gene

Paralogs for ASH1L Gene

(4) SIMAP similar genes for ASH1L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ASH1L: view

Variants for ASH1L Gene

Sequence variations from dbSNP and Humsavar for ASH1L Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000034706 -- 155,418,459(+) GATTA(A/C)AGAAA intron-variant
rs1000058487 -- 155,496,452(+) ATGCA(C/T)TCATG intron-variant
rs1000096410 -- 155,525,982(+) ACTGT(A/G)CTTTA intron-variant
rs1000096454 -- 155,545,668(+) TATTC(C/T)TATTA intron-variant
rs1000098786 -- 155,402,359(+) TTTTA(C/T)TGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASH1L Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2476624 CNV deletion 19546169
esv2718418 CNV deletion 23290073
esv2758971 CNV gain 17122850
esv33869 CNV loss 17666407
esv3587623 CNV loss 21293372
esv3587625 CNV loss 21293372
esv3587626 CNV loss 21293372
esv3890671 CNV gain 25118596
nsv1145374 CNV deletion 24896259
nsv1150150 CNV duplication 26484159
nsv831636 CNV loss 17160897
nsv946415 CNV duplication 23825009
nsv946416 CNV duplication 23825009
nsv946417 CNV duplication 23825009

Variation tolerance for ASH1L Gene

Residual Variation Intolerance Score: 0.319% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASH1L Gene

Human Gene Mutation Database (HGMD)
ASH1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASH1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASH1L Gene

Disorders for ASH1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASH1L Gene - From: GeneTests, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ASH1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASH1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASH1L
genes like me logo Genes that share disorders with ASH1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASH1L Gene

Publications for ASH1L Gene

  1. huASH1 protein, a putative transcription factor encoded by a human homologue of the Drosophila ash1 gene, localizes to both nuclei and cell-cell tight junctions. (PMID: 10860993) Nakamura T. … Canaani E. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 22 64
  2. Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism. (PMID: 21239497) An S. … Song J.J. (J. Biol. Chem. 2011) 3 4 64
  3. An anthropoid-specific segmental duplication on human chromosome 1q22. (PMID: 16545939) Kuryshev V.Y. … Wiemann S. (Genomics 2006) 2 3 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64

Products for ASH1L Gene

Sources for ASH1L Gene

Content
Loading form....