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

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: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

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
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?

Ash1L ameliorates psoriasis via limiting neuronal activity-dependent release of miR-let-7b.
Title: Ash1L ameliorates psoriasis via limiting neuronal activity-dependent release of miR-let-7b.
ASH1L contributes to oocyte apoptosis by regulating DNA damage.
Title: ASH1L contributes to oocyte apoptosis by regulating DNA damage.
ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder.
Title: ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder.
Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures.
Title: Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures.
Novel role of ASH1L histone methyltransferase in anaplastic thyroid carcinoma.
Title: Novel role of ASH1L histone methyltransferase in anaplastic thyroid carcinoma.
Study shows that mutations associated with acute myelogenous leukemia (AML) result both in loss of miR-142-3p function and in decreased miR-142-5p expression. During hematopoietic maturation, loss of Mir142 increased ASH1L protein expression and consequently resulted in the aberrant maintenance of Hoxa gene expression in myeloid-committed hematopoietic progenitors.
Title: MIR142 Loss-of-Function Mutations Derepress ASH1L to Increase HOXA Gene Expression and Promote Leukemogenesis.
The Trithorax protein Ash1L promotes myoblast fusion by activating Cdon expression
Title: The Trithorax protein Ash1L promotes myoblast fusion by activating Cdon expression.
Ash1l upregulates Smad3 expression by directly targeting Smad3 promoter to increase local H3K4 trimethylation.
Title: Ash1l and lnc-Smad3 coordinate Smad3 locus accessibility to modulate iTreg polarization and T cell autoimmunity.
Loss of Ash1l leads to more proliferative keratinocytes in disturbed differentiation stages and Ash1l mutation leads to delayed re-epithlialization but increased keratinocyte proliferation at the wound edge.
Title: The Histone Methyltransferase Ash1l is Required for Epidermal Homeostasis in Mice.
Results reveal that a novel process of activity-dependent transcriptional repression exists in neurons and that Ash1L mediates the long-term repression of nrxn1alpha, thus implicating an important role for epigenetic modification in brain functioning.
Title: Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Transposon induced (1) 1 citation
Gene trapped (1)
Targeted (3) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:225099

D3Mit282 (e-PCR), detects polymorphism
- UniSTS:129712

AL033792 (e-PCR)
- UniSTS:93644

NoName (e-PCR)
- UniSTS:234728

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

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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

EC 2.1.1.359

EC 2.1.1.367

XP_006501204.1

EC 2.1.1.359

EC 2.1.1.367

XP_006501205.1

EC 2.1.1.359

EC 2.1.1.367

XP_017174988.1

EC 2.1.1.359

EC 2.1.1.367

XP_017174991.1

EC 2.1.1.359

EC 2.1.1.367

XP_030108328.1

EC 2.1.1.359

EC 2.1.1.367

XP_036018849.1

EC 2.1.1.359

EC 2.1.1.367

XP_036018850.1

EC 2.1.1.359

EC 2.1.1.367

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_138679.5 → NP_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:2432 → 2537

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:1061 → 1187

motB; flagellar motor protein MotB; Reviewed

smart00570
Location:2082 → 2133

AWS; associated with SET domains

cd04717
Location:2654 → 2788

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:2575 → 2617

PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

cd19174
Location:2136 → 2276

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

88857721..88986682

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501142.3 → XP_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:2432 → 2537

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:1061 → 1187

motB; flagellar motor protein MotB; Reviewed

smart00570
Location:2082 → 2133

AWS; associated with SET domains

cd04717
Location:2654 → 2788

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:2575 → 2617

PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

cd19174
Location:2136 → 2276

SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
XM_030252468.2 → XP_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:2432 → 2537

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:1061 → 1187

motB; flagellar motor protein MotB; Reviewed

smart00570
Location:2082 → 2133

AWS; associated with SET domains

cd04717
Location:2654 → 2788

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:2575 → 2617

PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

cd19174
Location:2136 → 2276

SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
XM_006501141.4 → XP_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:2432 → 2537

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:1061 → 1187

motB; flagellar motor protein MotB; Reviewed

smart00570
Location:2082 → 2133

AWS; associated with SET domains

cd04717
Location:2654 → 2788

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:2575 → 2617

PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

cd19174
Location:2136 → 2276

SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
XM_017319499.3 → XP_017174988.1 histone-lysine N-methyltransferase ASH1L isoform X2

Conserved Domains (1) summary

PRK12799
Location:1061 → 1187

motB; flagellar motor protein MotB; Reviewed
XM_036162956.1 → XP_036018849.1 histone-lysine N-methyltransferase ASH1L isoform X3

Conserved Domains (1) summary

PRK12799
Location:1061 → 1187

motB; flagellar motor protein MotB; Reviewed
XM_017319502.2 → XP_017174991.1 histone-lysine N-methyltransferase ASH1L isoform X5

Conserved Domains (5) summary

cd05525
Location:726 → 831

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:376 → 427

AWS; associated with SET domains

cd04717
Location:948 → 1082

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:869 → 911

PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

cd19174
Location:430 → 570

SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins
XM_036162957.1 → XP_036018850.1 histone-lysine N-methyltransferase ASH1L isoform X4

Conserved Domains (5) summary

cd05525
Location:777 → 882

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:427 → 478

AWS; associated with SET domains

cd04717
Location:999 → 1133

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:920 → 962

PHD_ASH1L; PHD finger found in histone-lysine N-methyltransferase ASH1L

cd19174
Location:481 → 621

SET_ASH1L; SET domain (including post-SET domain) found in ASH1-like protein (ASH1L) and similar proteins