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Histone-lysine N-methyltransferase EHMT1

Summary

UniProt ID

Q9H9B1

Gene Symbol

EHMT1
EUHMTASE1
GLP
KIAA1876
KMT1D

Gene ID

79813

Organism

Homo sapiens (human)

External Links

GlyGen: Q9H9B1
PubChem: Q9H9B1
The Human Metabolome Database: HMDBP00425
Re-Glyco: Q9H9B1

Annotation

Keyword

3D-structure
ANK repeat
Acetylation
Alternative splicing
Chromatin regulator
Chromosome
Disease variant
Intellectual disability
Isopeptide bond
Metal-binding
Methyltransferase
Nucleus
Phosphoprotein
Reference proteome
Repeat
S-adenosyl-L-methionine
Ubl conjugation
Zinc

Gene Ontology (GO)

Displaying **all 4** entries
GO Term
chromatin
nucleus
nucleoplasm
nuclear body

Subcellular Location(GO Annotation)

Subcellular in which this glycoprotein is expressed are highlighted in blue.

Displaying **all 9** entries
GO Term
regulation of embryonic development
response to fungicide
positive regulation of cold-induced thermogenesis
peptidyl-lysine monomethylation
peptidyl-lysine dimethylation
negative regulation of transcription by RNA polymerase II
chromatin organization
negative regulation of DNA-templated transcription
DNA methylation-dependent heterochromatin formation

Displaying **all 9** entries
GO Term
histone H3K27 methyltransferase activity
zinc ion binding
histone H3K9 methyltransferase activity
C2H2 zinc finger domain binding
histone H3K9me2 methyltransferase activity
transcription corepressor binding
p53 binding
methyltransferase activity
protein-lysine N-methyltransferase activity

Annotation information from UniProt.

Sequence

MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCENSDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVIGSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLGEGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVREARDHKEPKEEINKNISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVPKKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDDGHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSESSIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYMEVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRMETPKSREITTLANNQCMATESVDHELGRCTNSVVKYELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNFMECQPESSISHRFHKDCASRVNNASYCPHCGEESSKAKEVTIAKADTTSTVTPVPGQEKGSALEGRADTTTGSAAGPPLSEDDKLQGAASHVPEGFDPTGPAGLGRPTPGLSQGPGKETLESALIALDSEKPKKLRFHPKQLYFSARQGELQKVLLMLVDGIDPNFKMEHQNKRSPLHAAAEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYLIKAGALVDPKDAEGSTCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDINIRDNEENICLHWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLSRDSDVTLKNKEGETPLQCASLNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYERIPIPCVNAVDSEPCPSNYKYVSQNCVTSPMNIDRNITHLQYCVCIDDCSSSNCMCGQLSMRCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVVQNGLRARLQLYRTRDMGWGVRSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDARFYGNVSRFINHHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGSPKCRHSSAALAQRQASAAQEAQEDGLPDTSSAAAADPL

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 2** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
240			G31166QV G84712KL G89373FA G62765YT	GlyGen
708				GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 6** entries
Pathway Name	Organism
PKMTs methylate histone lysines	Homo sapiens
Regulation of TP53 Activity through Methylation	Homo sapiens
Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex	Homo sapiens
Senescence-Associated Secretory Phenotype (SASP)	Homo sapiens
Transcriptional Regulation by E2F6	Homo sapiens
Transcriptional Regulation by VENTX	Homo sapiens

Disease

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0060352	Kleefstra syndrome 1	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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External Links

Annotation

International Collaboration

Acknowledgements