Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:GLP
ESETL1 KMT1D |
| gptkbp:associatedWith |
gptkb:Kleefstra_syndrome
|
| gptkbp:biologicalProcess |
H3K9 methylation
|
| gptkbp:discoveredIn |
2003
|
| gptkbp:encodes |
Euchromatic histone-lysine N-methyltransferase 1
|
| gptkbp:Entrez_Gene_ID |
79813
|
| gptkbp:expressedIn |
brain
heart liver |
| gptkbp:function |
histone methyltransferase activity
transcriptional repression |
| gptkbp:HGNC_ID |
HGNC:24017
|
| https://www.w3.org/2000/01/rdf-schema#label |
EHMT1
|
| gptkbp:interactsWith |
EHMT2
WIZ ZNF200 |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
intellectual disability |
| gptkbp:orthologInMouse |
Ehmt1
|
| gptkbp:proteinFamily |
SET domain-containing proteins
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q9H9B1
|
| gptkbp:bfsParent |
gptkb:chromosome_9q34
gptkb:9q34 |
| gptkbp:bfsLayer |
7
|