• Gene id: 79576

Gene Summary

• Gene Symbol: NKAP   Gene   UCSC   Ensembl
• Aliases: MRXSHD
• Gene name: NFKB activating protein
• Alternate names: NF-kappa-B-activating protein, NF-kappaB activating protein,
• Gene location: Xq24 (119943750: 119920671)     Exons: 10     NC_000023.11
• Gene summary(Entrez): 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 transcripti
• OMIM: 300766

Protein Summary

• Protein general information: Q8N5F7  
  • Name: NF kappa B activating protein
  • Length: 415  
  • Mass: 47138
• Sequence:

  MAPVSGSRSPDREASGSGGRRRSSSKSPKPSKSARSPRGRRSRSHSCSRSGDRNGLTHQLGGLSQGSRNQSYRSR
  SRSRSRERPSAPRGIPFASASSSVYYGSYSRPYGSDKPWPSLLDKEREESLRQKRLSERERIGELGAPEVWGLSP
  KNPEPDSDEHTPVEDEEPKKSTTSASTSEEEKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSD
  EDNKRRAKKAKKKEKKKKHRSKKYKKKRSKKSRKESSDSSSKESQEEFLENPWKDRTKAEEPSDLIGPEAPKTLT
  SQDDKPLNYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIASFECSGYVMSGSRHRRMEAVRLRKENQIYS
  ADEKRALASFNQEERRKRENKILASFREMVYRKTKGKDDK

• Structural information:
  • Interpro: IPR040466  IPR009269  
  • PDB: 6QDV
  • PDBsum: 6QDV
  • STRING: ENSP00000360464
• Other Databases: GeneCards:  NKAP  Malacards:  NKAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IDA	molecular function
GO:0046638	positive regulation of alpha-beta T cell differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030851	granulocyte differentiation	IEA	biological process
GO:0071425	hematopoietic stem cell proliferation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881