Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
KIAA1267
NSL1 |
| gptkbp:associatedWith |
gptkb:Koolen–de_Vries_syndrome
|
| gptkbp:encodes |
KAT8 regulatory NSL complex subunit 1 protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000162670
284058 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
component of the NSL complex
involved in chromatin modification |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:28240
|
| https://www.w3.org/2000/01/rdf-schema#label |
KANSL1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
|
| gptkbp:mutationAssociatedWith |
intellectual disability
developmental delay |
| gptkbp:OMIM |
612452
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Kansl1
|
| gptkbp:UniProtID |
Q9H9A6
|
| gptkbp:bfsParent |
gptkb:chromosome_17q21
gptkb:17q21.31_(human) gptkb:17q21.33 gptkb:chromosome_17q21.2 |
| gptkbp:bfsLayer |
8
|