histone-lysine N-methyltransferase NSD1
GPTKB entity
Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alternativeName |
gptkb:KMT3B
gptkb:Nuclear_receptor-binding_SET_domain-containing_protein_1 |
gptkbp:associatedWith |
gptkb:Sotos_syndrome
gptkb:Weaver_syndrome |
gptkbp:catalyzes |
methylation of histone H3 at lysine 36 (H3K36)
methylation of histone H4 at lysine 20 (H4K20) |
gptkbp:domain |
PWWP domain
SET domain PHD finger |
gptkbp:encodedBy |
gptkb:NSD1_gene
|
gptkbp:function |
histone methyltransferase
|
gptkbp:gene |
gptkb:NSD1
|
https://www.w3.org/2000/01/rdf-schema#label |
histone-lysine N-methyltransferase NSD1
|
gptkbp:locatedOnChromosome |
5q35
|
gptkbp:molecularWeight |
approximately 280 kDa
|
gptkbp:mutationAssociatedWith |
overgrowth syndromes
|
gptkbp:OMIM |
606681
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:subcellularLocation |
gptkb:nucleus
|
gptkbp:UniProtID |
gptkb:Q96L73
|
gptkbp:bfsParent |
gptkb:Nuclear_receptor-binding_SET_domain-containing_protein_1
gptkb:Nuclear_receptor-binding_SET_domain_protein_1 |
gptkbp:bfsLayer |
7
|