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    Ash1l ASH1 like histone lysine methyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 192195, updated on 3-Feb-2019

    Summary

    Official Symbol
    Ash1lprovided by MGI
    Official Full Name
    ASH1 like histone lysine methyltransferaseprovided by MGI
    Primary source
    MGI:MGI:2183158
    See related
    Ensembl:ENSMUSG00000028053
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ash1; Kmt2h; 8030453L17Rik; E430018P19Rik
    Expression
    Ubiquitous expression in bladder adult (RPKM 8.0), cerebellum adult (RPKM 8.0) and 28 other tissues See more
    Orthologs

    Genomic context

    See Ash1l in Genome Data Viewer
    Location:
    3; 3 F1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (88950492..89079375)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (88769734..88883297)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene gon-4-like (C.elegans) Neighboring gene predicted gene, 40091 Neighboring gene misato 1, mitochondrial distribution and morphology regulator Neighboring gene death associated protein 3 Neighboring gene RUN and SH3 domain containing 1 Neighboring gene farnesyl diphosphate synthetase

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Transposon induced (1)  1 citation
    • Gene trapped (1) 
    • Targeted (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone methyltransferase activity (H3-K36 specific) ISO
    Inferred from Sequence Orthology
    more info
     
    histone methyltransferase activity (H3-K4 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase activity (H3-K9 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone-lysine N-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    decidualization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H3-K36 dimethylation ISO
    Inferred from Sequence Orthology
    more info
     
    histone H3-K4 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-6 production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of acute inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sebaceous gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tarsal gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    uterine gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    uterus morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase ASH1L
    Names
    ASH1-like protein
    absent small and homeotic disks protein 1 homolog
    absent, small, or homeotic discs 1
    ash1 (absent, small, or homeotic)-like
    chromatin remodeling factor
    probable histone-lysine N-methyltransferase ASH1L
    NP_619620.3
    XP_006501204.1
    XP_006501205.1
    XP_017174988.1
    XP_017174989.1
    XP_017174991.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_138679.5NP_619620.3  histone-lysine N-methyltransferase ASH1L

      See identical proteins and their annotated locations for NP_619620.3

      Status: VALIDATED

      Source sequence(s)
      AK031724, AK033177, AK153783, BC052194, CF167627, CK627544
      Consensus CDS
      CCDS17487.1
      UniProtKB/Swiss-Prot
      Q99MY8
      Related
      ENSMUSP00000088451.4, ENSMUST00000090933.4
      Conserved Domains (5) summary
      cd05525
      Location:24322537
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20822133
      AWS; associated with SET domains
      smart00317
      Location:21362256
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26542788
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25752617
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      88950492..89079375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501142.2XP_006501205.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006501205.1

      UniProtKB/Swiss-Prot
      Q99MY8
      Conserved Domains (5) summary
      cd05525
      Location:24322537
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20822133
      AWS; associated with SET domains
      smart00317
      Location:21362256
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26542788
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25752617
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    2. XM_006501141.2XP_006501204.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006501204.1

      UniProtKB/Swiss-Prot
      Q99MY8
      Related
      ENSMUSP00000140251.1, ENSMUST00000186583.6
      Conserved Domains (5) summary
      cd05525
      Location:24322537
      Bromo_ASH1; Bromodomain; ASH1_like sub-family. ASH1 (absent, small, or homeotic 1) is a member of the trithorax-group in Drosophila melanogaster, an epigenetic transcriptional regulator of HOX genes. Drosophila ASH1 has been shown to methylate specific lysines in ...
      smart00570
      Location:20822133
      AWS; associated with SET domains
      smart00317
      Location:21362256
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd04717
      Location:26542788
      BAH_polybromo; BAH, or Bromo Adjacent Homology domain, as present in polybromo and yeast RSC1/2. The human polybromo protein (BAF180) is a component of the SWI/SNF chromatin-remodeling complex PBAF. It is thought that polybromo participates in transcriptional ...
      cd15548
      Location:25752617
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
    3. XM_017319499.1XP_017174988.1  histone-lysine N-methyltransferase ASH1L isoform X2

    4. XM_017319500.1XP_017174989.1  histone-lysine N-methyltransferase ASH1L isoform X3

    5. XM_017319502.1XP_017174991.1  histone-lysine N-methyltransferase ASH1L isoform X4

    RNA

    1. XR_001783666.1 RNA Sequence

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