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Aliases for NKAP Gene

Aliases for NKAP Gene

  • NFKB Activating Protein 2 3 5
  • NF KappaB Activating Protein 2

External Ids for NKAP Gene

Previous GeneCards Identifiers for NKAP Gene

  • GC0XM117813
  • GC0XM118840
  • GC0XM118943
  • GC0XM119059
  • GC0XM108555

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 (KEGG). Gene Ontology (GO) annotations related to this gene include chromatin DNA binding. An important paralog of this gene is NKAPL.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for NKAP Gene

Genomics for NKAP Gene

GeneHancer (GH) Regulatory Elements for NKAP Gene

Promoters and enhancers for NKAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI119941 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 569 +0.6 614 2.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZNF766 NKAP RHOXF1P3 CUL4B RHOXF1-AS1 NKRF RHOXF1
GH0XI119674 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.2 +259.1 259068 20.2 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B FEZF1 IRF4 YY1 POLR2B SEPT6 NKAPP1 EEF1A1P30 CUL4B UPF3B NKAP NKRF MIR766 CXorf56 LINC01402
GH0XI119466 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.5 +474.6 474563 4.6 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 SP3 SLC25A5-AS1 SLC25A5 PIR58034 SLC25A43 CXorf56 ENSG00000237903 RNU1-67P EEF1A1P30 NKAP NKAPP1
GH0XI120309 Enhancer 1.2 Ensembl ENCODE 20.6 -366.4 -366428 2.4 PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 ZNF213 ZNF302 ZNF416 TMEM255A NKAPP1 UPF3B EEF1A1P30 NKAP LINC01402 RHOXF1 ZBTB33 CXorf56 ENSG00000232042
GH0XI119789 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.9 +152.5 152508 3.7 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SP3 ZHX2 RPL39 NKAP CUL4B UPF3B RNF113A SNORA69 GC0XM119789 GC0XM119788
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NKAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NKAP gene promoter:

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)

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};

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

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 IDA 19409814
GO:0003723 RNA binding IDA,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

miRNA for NKAP Gene

miRTarBase miRNAs that target 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

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

SuperPathway Contained pathways
1 Notch signaling pathway (KEGG)
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0019827 stem cell population maintenance 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

Unigene Clusters for NKAP Gene

NFKB activating protein:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NKAP

Expression for NKAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NKAP Gene



Protein tissue co-expression partners for NKAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NKAP Gene:

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 33 34
  • 98.51 (n)
dog
(Canis familiaris)
Mammalia NKAP 33 34
  • 94.75 (n)
cow
(Bos Taurus)
Mammalia NKAP 33 34
  • 91.81 (n)
mouse
(Mus musculus)
Mammalia Nkap 33 16 34
  • 84.1 (n)
rat
(Rattus norvegicus)
Mammalia Nkap 33
  • 83.13 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves NKAP 34
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11365 33
African clawed frog
(Xenopus laevis)
Amphibia nuc06-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii nkap 34
  • 54 (a)
OneToMany
wufj36d09 33
fruit fly
(Drosophila melanogaster)
Insecta CG6066 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-504 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for NKAP Gene

Paralogs for NKAP Gene

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

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

Variants for NKAP Gene

Sequence variations from dbSNP and Humsavar for NKAP Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000019487 -- 119,945,445(-) G/A upstream_transcript_variant
rs1000446545 -- 119,929,001(-) A/T intron_variant
rs1001687876 -- 119,936,650(-) T/C coding_sequence_variant, missense_variant
rs1001747538 -- 119,943,447(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1002081292 -- 119,945,207(-) A/G upstream_transcript_variant

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 58
  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 44 58
  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 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for NKAP Gene

Sources for NKAP Gene

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