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

Gene ID: 192195, updated on 8-Feb-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 methyltransferase activity (H3-K4 specific) and histone methyltransferase activity (H3-K9 specific). Acts upstream of or within several processes, including negative regulation of intracellular signal transduction; reproductive structure development; and tarsal gland development. Predicted to be located in Golgi apparatus and nucleoplasm. Is expressed in early conceptus; inner cell mass; oocyte; and ureter. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 52. Orthologous to human ASH1L (ASH1 like histone lysine methyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 8.0), cerebellum adult (RPKM 8.0) and 28 other tissues See more
Orthologs
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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

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 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 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chromatin organization 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 
acts_upstream_of_or_within 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 ISO
Inferred from Sequence Orthology
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
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 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)

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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