Ash1l MGI Mouse Gene Detail - MGI:2183158 - ASH1 like histone lysine methyltransferase

Symbol

Ash1l
Name

ASH1 like histone lysine methyltransferase
Synonyms

8030453L17Rik, chromatin remodeling factor, E430018P19Rik, KMT2H

Feature Type

protein coding gene
IDs

MGI:2183158
NCBI Gene: 192195
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr3:88857929-88986682 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 39.01 cM
Mapping Data

3 experiments

SNPs within 2kb

2169 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2183158	protein coding gene	Chr3:88857721-88986682 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027412	protein coding gene	Chr3:89124040-89262850 (+)
A/J	MGP_AJ_G0027376	protein coding gene	Chr3:86187881-86317665 (+)
AKR/J	MGP_AKRJ_G0027340	protein coding gene	Chr3:88269214-88404619 (+)
BALB/cJ	MGP_BALBcJ_G0027385	protein coding gene	Chr3:86156344-86287971 (+)
C3H/HeJ	MGP_C3HHeJ_G0027127	protein coding gene	Chr3:88465513-88605208 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027831	protein coding gene	Chr3:92479023-92630638 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025183	protein coding gene	Chr3:81675455-81805726 (+)
CAST/EiJ	MGP_CASTEiJ_G0026573	protein coding gene	Chr3:88816620-88949970 (+)
CBA/J	MGP_CBAJ_G0027101	protein coding gene	Chr3:95677637-95819829 (+)
DBA/2J	MGP_DBA2J_G0027239	protein coding gene	Chr3:85566656-85703315 (+)
FVB/NJ	MGP_FVBNJ_G0027207	protein coding gene	Chr3:83903139-84031613 (+)
LP/J	MGP_LPJ_G0027348	protein coding gene	Chr3:90210801-90347339 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027227	protein coding gene	Chr3:101895240-102041811 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027890	protein coding gene	Chr3:88018122-88157394 (+)
PWK/PhJ	MGP_PWKPhJ_G0026307	protein coding gene	Chr3:85437617-85565575 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026126	protein coding gene	Chr3:87180833-87323411 (+)
WSB/EiJ	MGP_WSBEiJ_G0026655	protein coding gene	Chr3:88405251-88544879 (+)

Human Ortholog

ASH1L, ASH1 like histone lysine methyltransferase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASH1L, ASH1 like histone lysine methyltransferase
Synonyms

ASH1, ASH1L1, KMT2H, MRD52
Links

HGNC:19088

NCBI Gene ID: 55870

neXtProt AC: NX_Q9NR48

UniProt: Q9NR48
Chr Location

1q22; chr1:155335268-155563202 (-) GRCh38

MGI Vertebrate Homology

Ash1l stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ASH1L
Gene Tree

Ash1l

Diseases

1 with human ASH1L associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 52 IDs autosomal dominant intellectual developmental disorder 52 DOID:0080231 OMIM:617796

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

50 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
27 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

27
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

14
Radiation induced

1
Targeted

4
Transposon induced

1
Genomic Mutations

2 involving Ash1l
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

138 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects.

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All GO Annotations

53
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

851
Tissues

126
cDNA Data

121
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ASH1L

Xenbase ash1l

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All Sequences

67
RefSeq

18
UniProt

1
CCDS

CCDS17487.1

Ensembl

ENSMUSG00000028053 (Evidence)
NCBI Gene

192195

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028053	Ensembl Gene Model \| MGI Sequence Detail	128754	C57BL/6J	± kb
transcript	ENSMUST00000186583	Ensembl \| MGI Sequence Detail	11644	Not Applicable
polypeptide	ENSMUSP00000140251	Ensembl \| MGI Sequence Detail	2958	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000030913 histone-lysine N-methyltransferase ASH1L

(term hierarchy)
EC

2.1.1.359, 2.1.1.367
InterPro Domains

IPR043320 ASH1-like, Bromodomain

IPR043319 ASH1-like, PHD finger

IPR017956 AT hook, DNA-binding motif

IPR006560 AWS domain

IPR001025 Bromo adjacent homology (BAH) domain

IPR043151 Bromo adjacent homology (BAH) domain superfamily

IPR001487 Bromodomain

IPR036427 Bromodomain-like superfamily

IPR003616 Post-SET domain

IPR001214 SET domain

IPR046341 SET domain superfamily

IPR011011 Zinc finger, FYVE/PHD-type

IPR001965 Zinc finger, PHD-type

IPR019786 Zinc finger, PHD-type, conserved site

IPR013083 Zinc finger, RING/FYVE/PHD-type

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All nucleic 123

cDNA 121

Primer pair 2

Microarray probesets 6

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MGI:2442216, MGI:2444414

Summaries

All 66

Developmental Gene Expression 9

Diseases 1

Gene Ontology 12

Phenotypes 27
Earliest

J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
Latest

J:358999 Zhao X, et al., The histone methyltransferase ASH1L protects against bone loss by inhibiting osteoclastogenesis. Cell Death Differ. 2024 Mar 2;

TSS for Ash1l:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr30023	Chr3:88857338-88857389 (+)	-565 bp
Tssr30024	Chr3:88857657-88857702 (+)	-249 bp
Tssr30025	Chr3:88857736-88857753 (+)	-184 bp
Tssr30026	Chr3:88857945-88857975 (+)	31 bp
Tssr30027	Chr3:88857978-88857999 (+)	60 bp
Tssr30028	Chr3:88858008-88858056 (+)	103 bp
Tssr30029	Chr3:88858095-88858159 (+)	198 bp
Tssr30030	Chr3:88858166-88858179 (+)	244 bp
Tssr30031	Chr3:88878024-88878028 (+)	20,097 bp
Tssr30032	Chr3:88892183-88892225 (+)	34,275 bp
Tssr30033	Chr3:88950548-88950585 (+)	92,638 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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