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Aliases for ASH1L Gene

Aliases for ASH1L Gene

  • Ash1 (Absent, Small, Or Homeotic)-Like (Drosophila) 2 3
  • 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 63
  • KMT2H 3 4
  • Probable Histone-Lysine N-Methyltransferase ASH1L 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 (Absent, Small, Or Homeotic)-Like (Drosophila)) is a Protein Coding gene. Diseases associated with ASH1L include facioscapulohumeral muscular dystrophy 1. Among its related pathways are Tight junction and Lysine degradation. GO annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is EHMT1.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASH1L Gene

Genomics for ASH1L Gene

Regulatory Elements for ASH1L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ASH1L Gene at MOPED

Selected DME Specific Peptides for ASH1L Gene

Post-translational modifications for ASH1L Gene

  • Ubiquitination at Lys 402 and Lys 406
  • Modification sites at PhosphoSitePlus

Other Protein References 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 :
  • Contains 3 A.T hook DNA-binding domains.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
  • Contains 1 PHD-type zinc finger.
Domain:
  • Contains 3 A.T hook DNA-binding domains.
  • Contains 1 AWS domain.
  • Contains 1 BAH domain.
  • Contains 1 bromo domain.
  • Contains 1 post-SET domain.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Similarity:
  • Contains 1 PHD-type zinc finger.
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:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
GO:0018024 histone-lysine N-methyltransferase activity --
genes like me logo Genes that share ontologies with ASH1L: view

Phenotypes for ASH1L Gene

GenomeRNAi human phenotypes for ASH1L:
genes like me logo Genes that share phenotypes with ASH1L: view

Animal Model Products

miRNA for ASH1L Gene

miRTarBase miRNAs that target ASH1L

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASH1L

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , 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
Jensen Localization Image for ASH1L Gene COMPARTMENTS Subcellular localization image for ASH1L gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10860993
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with ASH1L: view

Pathways & Interactions for ASH1L Gene

SuperPathways for ASH1L Gene

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

Pathways by source for ASH1L Gene

2 KEGG pathways for ASH1L Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002674 negative regulation of acute inflammatory response IEA --
GO:0006323 DNA packaging TAS 10860993
GO:0006366 transcription from RNA polymerase II promoter TAS 10860993
GO:0007267 cell-cell signaling TAS 10860993
GO:0032635 interleukin-6 production 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASH1L

Flow Cytometry Products

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 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, MOPED, and MaxQB for ASH1L Gene



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.
genes like me logo Genes that share expression patterns with ASH1L: view

Protein tissue co-expression partners for ASH1L Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ASH1L 35
  • 93.68 (n)
  • 95.85 (a)
ASH1L 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASH1L 35
  • 91.74 (n)
  • 94.4 (a)
ASH1L 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ash1l 35
  • 89.02 (n)
  • 92.22 (a)
Ash1l 16
Ash1l 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASH1L 35
  • 99.75 (n)
  • 99.76 (a)
ASH1L 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ash1l 35
  • 89.35 (n)
  • 92.8 (a)
oppossum
(Monodelphis domestica)
Mammalia ASH1L 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASH1L 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASH1L 35
  • 75.56 (n)
  • 80.88 (a)
ASH1L 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASH1L 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20154 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4459 35
zebrafish
(Danio rerio)
Actinopterygii wufi34d11 35
ash1l 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ash1 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-25 36
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BYE1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2897 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
ManyToMany
Species with no ortholog for ASH1L:
  • 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 Sequence Context AA Info Type MAF
rs950619 -- 155,492,733(-) TTGTT(C/T)TCAAA intron-variant
rs959485 -- 155,379,447(-) CCATT(C/G)GGAAA intron-variant
rs1047304 -- 155,335,886(-) GTGGG(A/G)CTAGG utr-variant-3-prime
rs1052674 -- 155,480,206(+) CCAAA(A/G)AAGAG reference, missense
rs1325908 -- 155,443,513(-) TACAT(G/T)GTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv872457 CNV Loss 21882294
nsv831636 CNV Loss 17160897
esv33869 CNV Loss 17666407
nsv872467 CNV Loss 21882294
nsv872468 CNV Loss 21882294
esv2476624 CNV Deletion 19546169
esv2718418 CNV Deletion 23290073

Variation tolerance for ASH1L Gene

Residual Variation Intolerance Score: .32% 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

HapMap Linkage Disequilibrium report
ASH1L
Human Gene Mutation Database (HGMD)
ASH1L

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

Disorders for ASH1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASH1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
- elite association
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 23 67
  2. An anthropoid-specific segmental duplication on human chromosome 1q22. (PMID: 16545939) Kuryshev V.Y. … Wiemann S. (Genomics 2006) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2. (PMID: 26002201) Eram M.S. … Vedadi M. (Biochim. Biophys. Acta 2015) 67
  5. miR-142-3p down-regulation contributes to thyroid follicular tumorigenesis by targeting ASH1L and MLL1. (PMID: 25238203) Colamaio M. … Fusco A. (J. Clin. Endocrinol. Metab. 2015) 67

Products for ASH1L Gene

Sources for ASH1L Gene

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