|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:KMT3B
gptkb:NEDSY
gptkb:Nuclear_receptor-binding_SET_domain-containing_protein_1
|
|
gptkbp:associatedWith
|
gptkb:Sotos_syndrome
gptkb:Sotos_syndrome_1
gptkb:Weaver_syndrome
Intellectual disability
Developmental delay
|
|
gptkbp:biologicalProcess
|
chromatin modification
transcription regulation
histone-lysine N-methyltransferase activity
|
|
gptkbp:discoveredBy
|
gptkb:Kurotaki_et_al.
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
gptkb:NSD1_protein
|
|
gptkbp:Entrez_Gene_ID
|
64324
ENSG00000165671
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Nuclear_receptor-binding_SET_domain_protein_1
|
|
gptkbp:function
|
histone methyltransferase
|
|
gptkbp:gene
|
gptkb:NSD1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:17646
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NSD1
|
|
gptkbp:interactsWith
|
transcription factors
histones
nuclear receptors
|
|
gptkbp:length
|
2696
|
|
gptkbp:locatedOnChromosome
|
5q35
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:molecularWeight
|
296 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
frameshift
overgrowth syndromes
splice site
|
|
gptkbp:numberOfExons
|
23
|
|
gptkbp:OMIM
|
606681
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Nsd1
|
|
gptkbp:orthologInZebrafish
|
gptkb:nsd1a
nsd1b
|
|
gptkbp:pathway
|
epigenetic regulation
gene expression regulation
|
|
gptkbp:proteinFamily
|
gptkb:HMG_box
AWS domain
PHD-type zinc finger
PWWP domain
SAC domain
SET domain
SET domain-containing proteins
|
|
gptkbp:significance
|
pathogenic variants cause Sotos syndrome
variants may cause overgrowth syndromes
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
gptkb:Q96L73
|
|
gptkbp:bfsParent
|
gptkb:chromosome_5
|
|
gptkbp:bfsLayer
|
5
|