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 ide... See more...

Aliases for NKAP Gene

Aliases for NKAP Gene

  • NFKB Activating Protein 2 3 5
  • NF-Kappa-B-Activating Protein 3 4
  • NF-KappaB Activating Protein 3
  • NF KappaB Activating Protein 2

External Ids for NKAP Gene

Previous GeneCards Identifiers for NKAP Gene

  • GC0XM117813
  • GC0XM118840
  • GC0XM118943
  • GC0XM119059
  • GC0XM108555
  • GC0XM119927

Summaries for NKAP Gene

Entrez Gene Summary 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. 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. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.

Gene Wiki entry for NKAP Gene

Additional gene information for NKAP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NKAP Gene

Genomics for NKAP Gene

GeneHancer (GH) Regulatory Elements for NKAP Gene

Promoters and enhancers for NKAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NKAP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NKAP

Top Transcription factor binding sites by QIAGEN in the NKAP gene promoter:
  • aMEF-2
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • GATA-1
  • MEF-2A
  • NRF-2
  • p53
  • SRY

Genomic Locations for NKAP Gene

Genomic Locations for NKAP Gene
chrX:119,920,672-119,943,772
(GRCh38/hg38)
Size:
23,101 bases
Orientation:
Minus strand
chrX:119,059,013-119,077,735
(GRCh37/hg19)
Size:
18,723 bases
Orientation:
Minus strand

Genomic View for NKAP Gene

Genes around NKAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKAP Gene

Proteins for NKAP Gene

  • Protein details for NKAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5F7-NKAP_HUMAN
    Recommended name:
    NF-kappa-B-activating protein
    Protein Accession:
    Q8N5F7
    Secondary Accessions:
    • Q6IPW6
    • Q96BQ2
    • Q9H638

    Protein attributes for NKAP Gene

    Size:
    415 amino acids
    Molecular mass:
    47138 Da
    Quaternary structure:
    • Component of the Notch corepressor complex. Interacts with CIR1 and HDAC3.
    SequenceCaution:
    • Sequence=AAH71686.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NKAP Gene

neXtProt entry for NKAP Gene

Post-translational modifications for NKAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKAP Gene

Domains & Families for NKAP Gene

Gene Families for NKAP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NKAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NKAP Gene

GenScript: Design optimal peptide antigens:
  • NKAP protein (A0PJ73_HUMAN)
  • NF-kappa-B-activating protein (NKAP_HUMAN)
  • NKAP protein (Q05D22_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N5F7

UniProtKB/Swiss-Prot:

NKAP_HUMAN :
  • Belongs to the NKAP family.
Family:
  • Belongs to the NKAP family.
genes like me logo Genes that share domains with NKAP: view

Function for NKAP Gene

Molecular function for NKAP Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.

Phenotypes From GWAS Catalog for NKAP Gene

Gene Ontology (GO) - Molecular Function for NKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA,IDA 19409814
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 19409814
GO:0031490 chromatin DNA binding IEA --
genes like me logo Genes that share ontologies with NKAP: view
genes like me logo Genes that share phenotypes with NKAP: view

Animal Model Products

CRISPR Products

miRNA for NKAP Gene

miRTarBase miRNAs that target NKAP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKAP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NKAP Gene

Localization for NKAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKAP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NKAP gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NKAP: view

Pathways & Interactions for NKAP Gene

PathCards logo

SuperPathways for NKAP Gene

genes like me logo Genes that share pathways with NKAP: view

Pathways by source for NKAP Gene

1 R&D Systems pathway for NKAP Gene

Gene Ontology (GO) - Biological Process for NKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0019827 stem cell population maintenance IEA --
GO:0030097 hemopoiesis IEA --
GO:0030851 granulocyte differentiation IEA --
genes like me logo Genes that share ontologies with NKAP: view

No data available for SIGNOR curated interactions for NKAP Gene

Drugs & Compounds for NKAP Gene

No Compound Related Data Available

Transcripts for NKAP Gene

mRNA/cDNA for NKAP Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKAP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKAP Gene

No ASD Table

Relevant External Links for NKAP Gene

GeneLoc Exon Structure for
NKAP

Expression for NKAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NKAP Gene

Protein differential expression in normal tissues from HIPED for NKAP Gene

This gene is overexpressed in Adrenal (23.0), Fetal ovary (13.6), Monocytes (10.0), and CD4 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NKAP Gene



Protein tissue co-expression partners for NKAP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NKAP

SOURCE GeneReport for Unigene cluster for NKAP Gene:

Hs.522771

Evidence on tissue expression from TISSUES for NKAP Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with NKAP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKAP Gene

Orthologs for NKAP Gene

This gene was present in the common ancestor of animals.

Orthologs for NKAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKAP 31 30
  • 98.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NKAP 31 30
  • 94.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NKAP 31 30
  • 91.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nkap 17 31 30
  • 84.1 (n)
rat
(Rattus norvegicus)
Mammalia Nkap 30
  • 83.13 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves NKAP 31
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11365 30
African clawed frog
(Xenopus laevis)
Amphibia nuc06-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii nkap 31
  • 54 (a)
OneToMany
wufj36d09 30
fruit fly
(Drosophila melanogaster)
Insecta CG6066 31
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-504 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for NKAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NKAP Gene

ENSEMBL:
Gene Tree for NKAP (if available)
TreeFam:
Gene Tree for NKAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NKAP: view image

Paralogs for NKAP Gene

Paralogs for NKAP Gene

(1) SIMAP similar genes for NKAP Gene using alignment to 3 proteins:

  • NKAP_HUMAN
  • A0PJ73_HUMAN
  • Q05D22_HUMAN
genes like me logo Genes that share paralogs with NKAP: view

Variants for NKAP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NKAP Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
780735 Benign: not provided 119,943,285(-) G/A SYNONYMOUS_VARIANT
rs34728541 - p.Pro115His

Additional dbSNP identifiers (rs#s) for NKAP Gene

Structural Variations from Database of Genomic Variants (DGV) for NKAP Gene

Variant ID Type Subtype PubMed ID
esv26416 CNV gain 19812545
esv2758888 CNV gain 17122850
esv3574425 CNV loss 25503493
nsv425243 CNV deletion 16902084
nsv7059 CNV insertion 18451855
nsv9969 CNV gain 18304495

Variation tolerance for NKAP Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKAP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKAP Gene

Disorders for NKAP Gene

Additional Disease Information for NKAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NKAP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NKAP Gene

Publications for NKAP Gene

  1. Identification of a nuclear protein that promotes NF-kappaB activation. (PMID: 14550261) Chen D … Shu HB (Biochemical and biophysical research communications 2003) 2 3 4 54
  2. Association of genetic profiles to Crohn's disease by linear combinations of single nucleotide polymorphisms. (PMID: 18804983) D'Addabbo A … Ancona N (Artificial intelligence in medicine 2009) 3 41 54
  3. NKAP is a transcriptional repressor of notch signaling and is required for T cell development. (PMID: 19409814) Pajerowski AG … Shapiro VS (Immunity 2009) 3 4 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for NKAP Gene

Sources for NKAP Gene