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

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 H3K4 methyltransferase activity. 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 alimentary system; brain; branchial arch; genitourinary system; and heart. Orthologous to human ASH2L (ASH2 like, histone lysine methyltransferase complex subunit). [provided by Alliance of Genome Resources, Oct 2024]
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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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)

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASH2L Mediates Epidermal Differentiation and Hair Follicle Morphogenesis through H3K4me3 Modification.
Title: ASH2L Mediates Epidermal Differentiation and Hair Follicle Morphogenesis through H3K4me3 Modification.
ASH2L upregulation contributes to diabetic endothelial dysfunction in mice through STEAP4-mediated copper uptake.
Title: ASH2L upregulation contributes to diabetic endothelial dysfunction in mice through STEAP4-mediated copper uptake.
Functional role of Ash2l in oxLDL induced endothelial dysfunction and atherosclerosis.
Title: Functional role of Ash2l in oxLDL induced endothelial dysfunction and atherosclerosis.
ASH2L-mediated H3K4me3 drives diabetic nephropathy through HIPK2 and Notch1 pathway.
Title: ASH2L-mediated H3K4me3 drives diabetic nephropathy through HIPK2 and Notch1 pathway.
ASH2L, Core Subunit of H3K4 Methylation Complex, Regulates Amelogenesis.
Title: ASH2L, Core Subunit of H3K4 Methylation Complex, Regulates Amelogenesis.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124659 (e-PCR)
- UniSTS:161481

RH125756 (e-PCR)
- UniSTS:162509

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-catenin 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	IEA Inferred from Electronic Annotation 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
involved_in positive regulation of cell population proliferation	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	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation 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 Set1C/COMPASS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in 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	ISS Inferred from Sequence or Structural Similarity more info
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)

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
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
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
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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

26306028..26337722 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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