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Ash2l ASH2 like histone lysine methyltransferase complex subunit [ Mus musculus (house mouse) ]

Gene ID: 23808, updated on 5-Mar-2024

Summary

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Official Symbol
Ash2lprovided by MGI
Official Full Name
ASH2 like histone lysine methyltransferase complex subunitprovided by MGI
Primary source
MGI:MGI:1344416
See related
Ensembl:ENSMUSG00000031575 AllianceGenome:MGI:1344416
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
Summary
Predicted to enable beta-catenin binding activity and transcription cis-regulatory region binding activity. Predicted to contribute to histone methyltransferase activity (H3-K4 specific). Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in euchromatin. Part of MLL1 complex. Is expressed in several structures, including brain; branchial arch; genitourinary system; gut gland; and respiratory system. Orthologous to human ASH2L (ASH2 like, histone lysine methyltransferase complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 27.0), CNS E11.5 (RPKM 19.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ash2l in Genome Data Viewer
Location:
8 A2; 8 14.17 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (26306028..26337722, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (25816000..25847694, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S25 pseudogene Neighboring gene LSM1 homolog, mRNA degradation associated Neighboring gene Star 5' regulatory region Neighboring gene STARR-seq mESC enhancer starr_20984 Neighboring gene steroidogenic acute regulatory protein Neighboring gene STARR-positive B cell enhancer ABC_E9309 Neighboring gene potassium channel, subfamily U, member 1 Neighboring gene STARR-seq mESC enhancer starr_20986 Neighboring gene STARR-seq mESC enhancer starr_20989 Neighboring gene heparan-alpha-glucosaminide N-acetyltransferase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Loss of the Ash2l subunit of histone H3K4 methyltransferase complexes reduces chromatin accessibility at promoters. Barsoum M, et al. Sci Rep, 2022 Dec 13. PMID 36513698, Free PMC Article
  2. Induction of senescence upon loss of the Ash2l core subunit of H3K4 methyltransferase complexes. Bochyńska A, et al. Nucleic Acids Res, 2022 Aug 12. PMID 35819198, Free PMC Article
  3. Hematopoietic stem and progenitor cell proliferation and differentiation requires the trithorax protein Ash2l. Lüscher-Firzlaff J, et al. Sci Rep, 2019 Jun 4. PMID 31164666, Free PMC Article
  4. Expression specificity and compensation effect of Ash2l-1/Ash2l-2 in mouse embryonic stem cells. Xie J, et al. Yi Chuan, 2018 Mar 20. PMID 29576547
  5. The trithorax group protein Ash2l is essential for pluripotency and maintaining open chromatin in embryonic stem cells. Wan M, et al. J Biol Chem, 2013 Feb 15. PMID 23239880, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional role of Ash2l in oxLDL induced endothelial dysfunction and atherosclerosis.
    Title: Functional role of Ash2l in oxLDL induced endothelial dysfunction and atherosclerosis.
  2. ASH2L-mediated H3K4me3 drives diabetic nephropathy through HIPK2 and Notch1 pathway.
    Title: ASH2L-mediated H3K4me3 drives diabetic nephropathy through HIPK2 and Notch1 pathway.
  3. ASH2L, Core Subunit of H3K4 Methylation Complex, Regulates Amelogenesis.
    Title: ASH2L, Core Subunit of H3K4 Methylation Complex, Regulates Amelogenesis.
  4. ASH2L regulates postnatal neurogenesis through Onecut2-mediated inhibition of TGF-beta signaling pathway.
    Title: ASH2L regulates postnatal neurogenesis through Onecut2-mediated inhibition of TGF-β signaling pathway.
  5. ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.
    Title: ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.
  6. Loss of the Ash2l subunit of histone H3K4 methyltransferase complexes reduces chromatin accessibility at promoters.
    Title: Loss of the Ash2l subunit of histone H3K4 methyltransferase complexes reduces chromatin accessibility at promoters.
  7. ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells.
    Title: ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells.
  8. The Ash2l SDI Domain Is Required to Maintain the Stability and Binding of DPY30.
    Title: The Ash2l SDI Domain Is Required to Maintain the Stability and Binding of DPY30.
  9. Hematopoietic stem and progenitor cell proliferation and differentiation requires the trithorax protein Ash2l.
    Title: Hematopoietic stem and progenitor cell proliferation and differentiation requires the trithorax protein Ash2l.
  10. The COMPASS Family Protein ASH2L Mediates Corticogenesis via Transcriptional Regulation of Wnt Signaling.
    Title: The COMPASS Family Protein ASH2L Mediates Corticogenesis via Transcriptional Regulation of Wnt Signaling.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables beta-catenin binding ISO
Inferred from Sequence Orthology
more info
  
contributes_to histone H3K4 methyltransferase activity TAS
Traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in response to estrogen ISO
Inferred from Sequence Orthology
more info
  
involved_in transcription initiation-coupled chromatin remodeling ISO
Inferred from Sequence Orthology
more info
  
involved_in transcription initiation-coupled chromatin remodeling NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of MLL1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of MLL1 complex ISO
Inferred from Sequence Orthology
more info
  
part_of MLL1/2 complex ISO
Inferred from Sequence Orthology
more info
  
part_of MLL3/4 complex ISO
Inferred from Sequence Orthology
more info
  
part_of Set1C/COMPASS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Set1C/COMPASS complex ISO
Inferred from Sequence Orthology
more info
  
part_of euchromatin IDA
Inferred from Direct Assay
more info
 PubMed 
part_of histone methyltransferase complex ISO
Inferred from Sequence Orthology
more info
 PubMed 
part_of histone methyltransferase complex TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

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Preferred Names
set1/Ash2 histone methyltransferase complex subunit ASH2
Names
ASH2-like protein
ash2 (absent, small, or homeotic)-like

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_001080793.2 → NP_001074262.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b

    See identical proteins and their annotated locations for NP_001074262.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at a downstream start codon compared to variant 4. The resulting isoform (b) has, among multiple differences, a shorter N-terminus compared to isoform d. This variant (2), as well as variant 3, encodes isoform b.
    Source sequence(s)
    AC122752, AK145576, BQ769493, CV556779
    Consensus CDS
    CCDS40308.1
    UniProtKB/TrEMBL
    E9PU93, Q3UKZ9
    Related
    ENSMUSP00000106240.2, ENSMUST00000110610.8
    Conserved Domains (2) summary
    cd15583
    Location:7 → 56
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:298 → 489
    SPRY_Ash2; SPRY domain in Ash2

  2. NM_001286207.1 → NP_001273136.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b

    See identical proteins and their annotated locations for NP_001273136.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at a downstream start codon, compared to variant 4. The resulting isoform (b) has, among multiple differences, a shorter N-terminus compared to isoform d. This variant (3), as well as variant 2, encodes isoform b.
    Source sequence(s)
    AC122752, AK146599, BQ769493, CV556779
    Consensus CDS
    CCDS40308.1
    UniProtKB/TrEMBL
    E9PU93, Q3UKZ9
    Related
    ENSMUSP00000106239.2, ENSMUST00000110609.8
    Conserved Domains (2) summary
    cd15583
    Location:7 → 56
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:298 → 489
    SPRY_Ash2; SPRY domain in Ash2

  3. NM_001359012.1 → NP_001345941.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest protein (isoform d).
    Source sequence(s)
    AC122752
    UniProtKB/TrEMBL
    Q3UKZ9
    Conserved Domains (2) summary
    cd15583
    Location:96 → 145
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:393 → 584
    SPRY_Ash2; SPRY domain in Ash2

  4. NM_011791.3 → NP_035921.2  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform a

    See identical proteins and their annotated locations for NP_035921.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region compared to variant 4 and encodes a shorter protein (isoform a) compared to isoform d.
    Source sequence(s)
    AC122752, AK146938, BQ769493, CV556779
    Consensus CDS
    CCDS40307.1
    UniProtKB/Swiss-Prot
    Q3UIF9, Q91X20, Q9Z2X4
    UniProtKB/TrEMBL
    Q3UKZ9
    Related
    ENSMUSP00000070957.8, ENSMUST00000068892.15
    Conserved Domains (2) summary
    cd15583
    Location:96 → 145
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:387 → 578
    SPRY_Ash2; SPRY domain in Ash2

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_000074.7 Reference GRCm39 C57BL/6J

    Range
    26306028..26337722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011242136.2 → XP_011240438.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1

    UniProtKB/TrEMBL
    Q3UKZ9
    Conserved Domains (2) summary
    cd15583
    Location:7 → 56
    PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
    cd12872
    Location:304 → 495
    SPRY_Ash2; SPRY domain in Ash2

RNA

  1. XR_001778438.2 RNA Sequence

    Related
    ENSMUST00000139946.8
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91X20.1 GenPept UniProtKB/Swiss-Prot:Q91X20

Gene LinkOut

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