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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
  • 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
  • EC 2.1.1.43 4
  • 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 Chromatin organization and PKMTs methylate histone lysines. 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 SETD2.

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
GH01J155561 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -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
GH01J155687 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.1 -126.1 -126090 3.9 HDGF CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B YY1AP1 DAP3 ASH1L GON4L KHDC4 ENSG00000271267 CLK2 LMNA SHC1 MSTO2P
GH01J155648 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 660.4 -85.8 -85837 1.1 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 RAD21 ETS1 FOS MIXL1 ZNF654 ASH1L LOC100419799 GBA SCAMP3 FAM189B RUSC1-AS1 RUSC1 MIR555 DAP3 LOC100419798
GH01J155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 46.6 +318.6 318608 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA GON4L KHDC4 CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01J154998 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 THBS3 RUSC1-AS1 SHC1 MSTO1
- 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:
  • NCX
  • AML1a
  • Olf-1
  • S8
  • En-1
  • AREB6
  • Ik-3
  • YY1
  • COMP1

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)
Size:
227,547 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

Post-translational modifications for ASH1L Gene

  • Ubiquitination at Lys406 and posLast=402402
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASH1L Gene

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

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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IEA --
GO:0008168 methyltransferase 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:
  • Ash1l Ash1l<tm2b(EUCOMM)Hmgu>

Animal Model Products

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:0006325 chromatin organization IEA --
GO:0006351 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, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
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, 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 34 33
  • 99.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASH1L 34 33
  • 93.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASH1L 34 33
  • 91.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASH1L 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ash1l 33
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Ash1l 16 34 33
  • 89.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ASH1L 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASH1L 34 33
  • 75.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASH1L 34
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4459 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20154 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
Cin.2897 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for ASH1L: view image

Paralogs for ASH1L Gene

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

  • ASH1L_HUMAN
  • F8VWK7_HUMAN
  • H0YI82_HUMAN
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
nsv946417 CNV duplication 23825009
nsv946416 CNV duplication 23825009
nsv946415 CNV duplication 23825009
nsv831636 CNV loss 17160897
nsv1150150 CNV duplication 26484159
nsv1145374 CNV deletion 24896259
esv3890671 CNV gain 25118596
esv3587626 CNV loss 21293372
esv3587625 CNV loss 21293372
esv3587623 CNV loss 21293372
esv33869 CNV loss 17666407
esv2758971 CNV gain 17122850
esv2718418 CNV deletion 23290073
esv2476624 CNV deletion 19546169
dgv3n68 CNV loss 17160897

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

SNP Genotyping and Copy Number Assay Products

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, 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

Sources for ASH1L Gene