Aliases for NKAP Gene
External Ids for NKAP Gene
Previous GeneCards Identifiers for NKAP Gene
This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]
GeneCards Summary for NKAP Gene
NKAP (NFKB Activating Protein) is a Protein Coding gene. Diseases associated with NKAP include Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type and Fryns Syndrome. Among its related pathways are Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include chromatin DNA binding. An important paralog of this gene is NKAPL.
UniProtKB/Swiss-Prot Summary for NKAP Gene
Acts as a transcriptional repressor (PubMed:14550261, PubMed:19409814, PubMed:31587868). Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development (PubMed:19409814). Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.