About   Help   FAQ
Ehmt1
Gene Detail
Symbol

Name
ID
Ehmt1
euchromatic histone methyltransferase 1
MGI:1924933
Synonyms
9230102N17Rik, KMT1D, mKIAA1876
Feature Type
protein coding gene
Genetic Map
Chromosome 2
16.73 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:24789928-24919614 bp, - strand
From VEGA annotation of GRCm38

  129687 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11698  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EHMT1
Protein SuperFamily: histone H3-K9 methyltransferase, Ehmt2 type
Gene Tree: Ehmt1

Human
homologs
EHMT1, euchromatic histone-lysine N-methyltransferase 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 79813
neXtProt AC: NX_Q9H9B1

Human Synonyms: bA188C12.1, Eu-HMTase1, EUHMTASE1, FP13812, GLP, GLP1, KMT1D

Human Chr (Location): 9q34.3; chr9:137618992-137836127 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human EHMT1

Mutations,
alleles, and
phenotypes
All mutations/alleles(106) : Gene trapped(97) Targeted(8) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Heterozygous null mice display decreased exploration in a new environment. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E10.
 
Human Diseases Modeled in Mice Using Ehmt1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Ehmt1 interacts with 217 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (95 annotations)
Process chromatin modification, DNA methylation, ...
Component chromosome, cytoplasm, ...
Function 1-hydroxy-6-methoxypyrene methyltransferase activity, 1-hydroxypyrene methyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (94)    Tissues (94)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(210)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ehmt1 ; ZFIN ehmt1a, ehmt1b    NEW 
Molecular
reagents
All nucleic(211) cDNA(210) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000012294 (Evidence)
Ensembl Gene Model ENSMUSG00000036893 (Evidence)
Entrez Gene 77683 (Evidence)
UniGene 24176
DFCI TC1573035, TC1585258, TC1601360, TC1603534, TC1618887, TC1623301, TC1755923
DoTS DT.101409255, DT.101409258, DT.103579388, DT.110683843, DT.87068746, DT.91408469, DT.91434542
NIA Mouse Gene Index U022367
EC 2.1.1.-, 2.1.1.43
Consensus CDS Project CCDS15740.1, CCDS59634.1, CCDS59635.1, CCDS59636.1
International Mouse Phenotyping Consortium Status Ehmt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012294 VEGA Gene Model | MGI Sequence Detail 129687 C57BL/6J ±  kb
transcript OTTMUST00000029249 VEGA | MGI Sequence Detail 5953 Not Applicable 
polypeptide OTTMUSP00000013205 VEGA | MGI Sequence Detail 1296 Not Applicable 

For the selected sequences
All sequences(143) RefSeq(31) UniProt(16)
Polymorphisms
SNPs within 2kb(758 from dbSNP Build 137)    SNPs within 2kb including multiple locations(766)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR007728 Pre-SET domain
InterPro IPR003606 Pre-SET zinc-binding sub-group
InterPro IPR001214 SET domain
Protein Ontology PR:000006948 histone-lysine N-methyltransferase, H3 lysine-9 specific 5
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:213022 Mozzetta C, et al., The histone H3 lysine 9 methyltransferases G9a and GLP regulate polycomb repressive complex 2-mediated gene silencing. Mol Cell. 2014 Jan 23;53(2):277-89
All references(65)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory