NKAP

Chr Xq24

NFKB activating protein

Aliases:: FLJ22626
MANE:: ENST00000371410.5

OMIM: 300766 ↗NCBI: 79576 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NKAP · Q8N5F7

v62025-08-01

Predicted Aligned Error matrix for NKAP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.5/ 100

Low

415 residues

Confidence breakdown

Very high(≥ 90)8%
Confident(70–90)27%
Low(50–70)24%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
0.76
Global developmental delay
0.40
Intellectual disability
0.37
hereditary disease
0.19
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
0.12
neuroblastoma
0.08
glioma
0.08
central nervous system cancer
0.08
glioblastoma
0.07
breast carcinoma
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NF-kappa-B-activating protein

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