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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 56
  • 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
  • MRD52 3
  • 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 Mental Retardation, Autosomal Dominant 52 and Pulpitis. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot for ASH1L Gene

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

Gene Wiki entry for ASH1L Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ASH1L Gene

Promoters and enhancers for ASH1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I155561 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -0.4 -351 4.4 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ASH1L-AS1 ASH1L CLK2 GON4L KHDC4 THBS3 SSR2 ENSG00000271267 GLMP RUSC1-AS1
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 58.2 +318.6 318608 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01I154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.1 +558.4 558399 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 RUSC1-AS1 MSTO1 THBS3 MSTO2P
GH01I155222 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 22.8 +337.1 337119 5.9 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A MEF2D GBAP1 KHDC4 MSTO1 ENSG00000271267 GON4L MSTO2P CLK2 RUSC1-AS1 LOC101928120 THBS3
GH01I156456 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -894.5 -894526 2.7 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 ENSG00000236947 KHDC4 GON4L ENSG00000271267 RRNAD1 LOC246784 LMNA ASH1L MSTO2P PRCC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASH1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASH1L gene promoter:

Genomic Locations for ASH1L Gene

Genomic Locations for ASH1L Gene
chr1:155,335,261-155,562,850
(GRCh38/hg38)
Size:
227,590 bases
Orientation:
Minus strand
chr1:155,305,052-155,532,598
(GRCh37/hg19)

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 posLast=402402 and Lys406

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

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0018024 histone-lysine N-methyltransferase activity TAS --
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:

miRNA for ASH1L Gene

miRTarBase miRNAs that target ASH1L

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

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 IEA,TAS --
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

(1) Drugs for ASH1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for ASH1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
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:

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

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 33 34
  • 99.75 (n)
cow
(Bos Taurus)
Mammalia ASH1L 33 34
  • 93.68 (n)
dog
(Canis familiaris)
Mammalia ASH1L 33 34
  • 91.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASH1L 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ash1l 33
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Ash1l 33 16 34
  • 89.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ASH1L 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASH1L 33 34
  • 75.56 (n)
lizard
(Anolis carolinensis)
Reptilia ASH1L 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20154 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4459 33
zebrafish
(Danio rerio)
Actinopterygii ash1l 34
  • 48 (a)
OneToOne
wufi34d11 33
fruit fly
(Drosophila melanogaster)
Insecta ash1 34
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-25 34
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BYE1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2897 33
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

(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 Variation AA Info Type
rs775592405 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 155,337,701(-) TT/TTT coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1064795921 uncertain-significance, not specified 155,480,615(-) TTT/TT coding_sequence_variant, frameshift, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000034706 -- 155,418,459(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000058487 -- 155,496,452(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000096410 -- 155,525,982(-) A/G genic_upstream_transcript_variant, 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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 52
  • mrd52
pulpitis
- elite association - COSMIC cancer census association via MalaCards
Search ASH1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 22 58
  2. Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism. (PMID: 21239497) An S … Song JJ (The Journal of biological chemistry 2011) 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. An anthropoid-specific segmental duplication on human chromosome 1q22. (PMID: 16545939) Kuryshev VY … Wiemann S (Genomics 2006) 2 3 58
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58

Products for ASH1L Gene