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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]
NKAP (NFKB Activating Protein) is a Protein Coding gene. Diseases associated with NKAP include Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type. 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.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) |
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 | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NKAP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NKAP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NKAP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nkap 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nkap 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | NKAP 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | nuc06-A-prov 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.11365 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nkap 31 |
|
OneToMany | |
wufj36d09 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6066 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | let-504 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
780735 | Benign: not provided | 119,943,285(-) | G/A | SYNONYMOUS_VARIANT | |
827653 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | 119,930,091(-) | C/T | MISSENSE_VARIANT | |
827654 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | 119,930,101(-) | G/A | MISSENSE_VARIANT | |
827655 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | 119,930,100(-) | C/T | MISSENSE_VARIANT | |
827656 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | 119,930,079(-) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type |
|