Gene
nkap
- ID
- ZDB-GENE-030131-8064
- Name
- NFKB activating protein
- Symbol
- nkap Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable chromatin binding activity. Predicted to be involved in regulation of gene expression. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability. Orthologous to human NKAP (NFKB activating protein) and NKAPL (NFKB activating protein like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151930 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type | 301039 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NF-kappa-B-activating protein | NF-kappa-B-activating protein, C-terminal |
|---|---|---|---|
|
UniProtKB:Q6DRM1
|
368 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance
- Gene Tree
- Ensembl
- Note
- Amsterdam, et al. (2004. Proc. Natl. Acad. Sci. USA 101:12792-12797) reported this gene to be the ortholog of human NKAPL based on amino acid similarity. Subsequent analysis suggests it is the ortholog of human NKAP and mouse Nkap based on amino acid sequence and conserved synteny.