NKAP (NFKB activating protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79576
Gene name Gene Name - the full gene name approved by the HGNC.
NFKB activating protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NKAP
Synonyms (NCBI Gene) Gene synonyms aliases
MRXSHD
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq24
Summary Summary of gene provided in NCBI Entrez 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 transcripti
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs1603379318 C>T Pathogenic Coding sequence variant, missense variant
rs1603379772 A>G Pathogenic Coding sequence variant, missense variant
rs1603379779 C>T Pathogenic Coding sequence variant, missense variant
rs1603379780 C>T Pathogenic Coding sequence variant, missense variant
rs1603379781 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(193)
miRTarBase ID miRNA Experiments Reference
MIRT021176 hsa-miR-186-5p Sequencing 20371350
MIRT022503 hsa-miR-124-3p Microarray 18668037
MIRT634518 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT634510 hsa-miR-5571-3p HITS-CLIP 23824327
MIRT634518 hsa-miR-1306-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 31587868
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 19409814
GO:0003682 Function Chromatin binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300766 29873 ENSG00000101882
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N5F7
Protein name NF-kappa-B-activating protein
Protein function 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 an
PDB 6QDV , 7W5B , 8C6J , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15692 NKAP 120 → 208 Family
PF06047 Nkap_C 306 → 407 NF-kappa-B-activating protein C-terminal domain Domain
Sequence 
MAPVSGSRSPDREASGSGGRRRSSSKSPKPSKSARSPRGRRSRSHSCSRSGDRNGLTHQL
GGLSQGSRNQSYRSRSRSRSRERPSAPRGIPFASASSSVYYGSYSRPYGSDKPWPSLLDK
EREESLRQKRLSERERIGELGAPEVWGLSPKNPEPDSDEHTPVEDEEPKKSTTSASTSEE
EKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSDEDNKRRAKKAKKKEK
KKKHRSKKYKKKRSKKSRKESSDSSSKESQEEFLENPWKDRTKAEEPSDLIGPEAPKTLT
SQDDKPLNYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIASFECSGYVMSGSRHR
RMEAVRLRKENQIYSADEKRALASFNQEERRKRENKILASFREMVYRKTKGKDDK
Sequence length 415
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type rs1603379772 N/A
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aneuploidy Inhibit 27694884
Carcinogenesis Associate 27694884
Carcinoma Hepatocellular Associate 35963644
Colorectal Neoplasms Associate 35064112
Glioblastoma Associate 35064112
Hemophilia A Associate 34445777
Hypoxia Brain Associate 35005769
Myocardial Infarction Stimulate 35005769
Sarcoma Inhibit 27694884