Aliases for KANSL1 Gene
External Ids for KANSL1 Gene
Previous HGNC Symbols for KANSL1 Gene
Previous GeneCards Identifiers for KANSL1 Gene
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
GeneCards Summary for KANSL1 Gene
KANSL1 (KAT8 Regulatory NSL Complex Subunit 1) is a Protein Coding gene. Diseases associated with KANSL1 include koolen-de vries syndrome and koolen-de vries syndrome due to a point mutation. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include histone acetyltransferase activity (H4-K5 specific) and histone acetyltransferase activity (H4-K16 specific). An important paralog of this gene is KANSL1L.
UniProtKB/Swiss-Prot for KANSL1 Gene
As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.