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

    Gene ID: 192195, updated on 9-Dec-2024

    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 AllianceGenome:MGI:2183158
    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
    Summary
    Enables histone H3K4 methyltransferase activity and histone H3K9 methyltransferase activity. Acts upstream of or within several processes, including decidualization; tarsal gland development; and uterine gland development. Predicted to be located in Golgi apparatus and nucleus. Predicted to be active in nucleoplasm. Is expressed in cerebral cortex; early conceptus; hindlimb muscle; oocyte; and ureter. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 52. Orthologous to human ASH1L (ASH1 like histone lysine methyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 8.0), cerebellum adult (RPKM 8.0) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ash1l in Genome Data Viewer
    Location:
    3 F1; 3 39.01 cM
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (88857721..88986682)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (88950414..89079375)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene gon-4 like Neighboring gene nuclear encoded rRNA 5S 197 Neighboring gene misato 1, mitochondrial distribution and morphology regulator Neighboring gene death associated protein 3 Neighboring gene STARR-seq mESC enhancer starr_08222 Neighboring gene predicted gene, 26465 Neighboring gene predicted gene, 24403 Neighboring gene STARR-seq mESC enhancer starr_08223 Neighboring gene STARR-positive B cell enhancer ABC_E1623 Neighboring gene RUN and SH3 domain containing 1 Neighboring gene predicted gene, 22935 Neighboring gene farnesyl diphosphate synthetase

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K36 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K36 trimethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K4 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3K4 methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone H3K9 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3K9 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K9me2 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within decidualization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within interleukin-6 production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within macrophage cytokine production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of acute inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sebaceous gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within tarsal gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within uterine gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within uterus morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    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_017174991.1
    XP_030108328.1
    XP_036018849.1
    XP_036018850.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      E9QNM2, Q3U598, Q80VY5, Q8BM69, Q8BTX0, Q8BZY6, Q99MY8
      Related
      ENSMUSP00000088451.5, ENSMUST00000090933.5
      Conserved Domains (6) 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 ...
      PRK12799
      Location:10611187
      motB; flagellar motor protein MotB; Reviewed
      smart00570
      Location:20822133
      AWS; associated with SET domains
      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
      cd19174
      Location:21362276
      SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      88857721..88986682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501142.3XP_006501205.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006501205.1

      UniProtKB/Swiss-Prot
      E9QNM2, Q3U598, Q80VY5, Q8BM69, Q8BTX0, Q8BZY6, Q99MY8
      Conserved Domains (6) 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 ...
      PRK12799
      Location:10611187
      motB; flagellar motor protein MotB; Reviewed
      smart00570
      Location:20822133
      AWS; associated with SET domains
      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
      cd19174
      Location:21362276
      SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
    2. XM_030252468.2XP_030108328.1  histone-lysine N-methyltransferase ASH1L isoform X1

      UniProtKB/Swiss-Prot
      E9QNM2, Q3U598, Q80VY5, Q8BM69, Q8BTX0, Q8BZY6, Q99MY8
      Conserved Domains (6) 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 ...
      PRK12799
      Location:10611187
      motB; flagellar motor protein MotB; Reviewed
      smart00570
      Location:20822133
      AWS; associated with SET domains
      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
      cd19174
      Location:21362276
      SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
    3. XM_006501141.4XP_006501204.1  histone-lysine N-methyltransferase ASH1L isoform X1

      See identical proteins and their annotated locations for XP_006501204.1

      UniProtKB/Swiss-Prot
      E9QNM2, Q3U598, Q80VY5, Q8BM69, Q8BTX0, Q8BZY6, Q99MY8
      Related
      ENSMUSP00000140251.2, ENSMUST00000186583.7
      Conserved Domains (6) 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 ...
      PRK12799
      Location:10611187
      motB; flagellar motor protein MotB; Reviewed
      smart00570
      Location:20822133
      AWS; associated with SET domains
      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
      cd19174
      Location:21362276
      SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
    4. XM_017319499.3XP_017174988.1  histone-lysine N-methyltransferase ASH1L isoform X2

      Conserved Domains (1) summary
      PRK12799
      Location:10611187
      motB; flagellar motor protein MotB; Reviewed
    5. XM_036162956.1XP_036018849.1  histone-lysine N-methyltransferase ASH1L isoform X3

      Conserved Domains (1) summary
      PRK12799
      Location:10611187
      motB; flagellar motor protein MotB; Reviewed
    6. XM_017319502.2XP_017174991.1  histone-lysine N-methyltransferase ASH1L isoform X5

      Conserved Domains (5) summary
      cd05525
      Location:726831
      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:376427
      AWS; associated with SET domains
      cd04717
      Location:9481082
      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:869911
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
      cd19174
      Location:430570
      SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
    7. XM_036162957.1XP_036018850.1  histone-lysine N-methyltransferase ASH1L isoform X4

      Conserved Domains (5) summary
      cd05525
      Location:777882
      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:427478
      AWS; associated with SET domains
      cd04717
      Location:9991133
      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:920962
      PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L
      cd19174
      Location:481621
      SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins

    RNA

    1. XR_001783666.3 RNA Sequence

    2. XR_004941297.1 RNA Sequence