Q8N5F7 · NKAP_HUMAN
- ProteinNF-kappa-B-activating protein
- GeneNKAP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids415 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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 and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter
Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development (PubMed:19409814).
Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Molecular Function | chromatin binding | |
Molecular Function | chromatin DNA binding | |
Molecular Function | molecular adaptor activity | |
Molecular Function | mRNA binding | |
Molecular Function | RNA binding | |
Biological Process | granulocyte differentiation | |
Biological Process | hematopoietic stem cell proliferation | |
Biological Process | negative regulation of DNA-templated transcription | |
Biological Process | negative regulation of transcription by RNA polymerase II | |
Biological Process | Notch signaling pathway | |
Biological Process | positive regulation of alpha-beta T cell differentiation | |
Biological Process | somatic stem cell population maintenance | |
Biological Process | T cell differentiation in thymus |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNF-kappa-B-activating protein
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N5F7
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD)
- Note
- DescriptionAn X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies.
- See alsoMIM:301039
Natural variants in MRXSHD
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083895 | 330 | R>C | in MRXSHD; dbSNP:rs1603379781 | |
VAR_083896 | 330 | R>H | in MRXSHD; dbSNP:rs1603379780 | |
VAR_083897 | 333 | R>Q | in MRXSHD; uncertain significance; dbSNP:rs1603379779 | |
VAR_083898 | 337 | I>T | in MRXSHD; dbSNP:rs1603379772 | |
VAR_083899 | 361 | R>Q | in MRXSHD; uncertain significance; dbSNP:rs1603379318 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_053799 | 115 | in dbSNP:rs34728541 | |||
Sequence: P → H | ||||||
Natural variant | VAR_083895 | 330 | in MRXSHD; dbSNP:rs1603379781 | |||
Sequence: R → C | ||||||
Natural variant | VAR_083896 | 330 | in MRXSHD; dbSNP:rs1603379780 | |||
Sequence: R → H | ||||||
Natural variant | VAR_083897 | 333 | in MRXSHD; uncertain significance; dbSNP:rs1603379779 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_083898 | 337 | in MRXSHD; dbSNP:rs1603379772 | |||
Sequence: I → T | ||||||
Natural variant | VAR_083899 | 361 | in MRXSHD; uncertain significance; dbSNP:rs1603379318 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 322 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue, cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000259645 | 1-415 | UniProt | NF-kappa-B-activating protein | |||
Sequence: MAPVSGSRSPDREASGSGGRRRSSSKSPKPSKSARSPRGRRSRSHSCSRSGDRNGLTHQLGGLSQGSRNQSYRSRSRSRSRERPSAPRGIPFASASSSVYYGSYSRPYGSDKPWPSLLDKEREESLRQKRLSERERIGELGAPEVWGLSPKNPEPDSDEHTPVEDEEPKKSTTSASTSEEEKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSDEDNKRRAKKAKKKEKKKKHRSKKYKKKRSKKSRKESSDSSSKESQEEFLENPWKDRTKAEEPSDLIGPEAPKTLTSQDDKPLNYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIASFECSGYVMSGSRHRRMEAVRLRKENQIYSADEKRALASFNQEERRKRENKILASFREMVYRKTKGKDDK | |||||||
Modified residue (large scale data) | 5 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 7 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 7 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 9 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 9 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 50 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 50 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 64 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 64 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 80 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 112 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 149 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 149 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 157 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 157 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 161 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 161 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 178 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 269 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 283 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 301 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 305 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 375 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the Notch corepressor complex. Interacts with CIR1 and HDAC3.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8N5F7 | AP1M1 Q9BXS5 | 3 | EBI-721539, EBI-541426 | |
BINARY | Q8N5F7 | DDX41 Q9UJV9 | 5 | EBI-721539, EBI-1046350 | |
BINARY | Q8N5F7 | DHX8 Q14562 | 3 | EBI-721539, EBI-2511477 | |
BINARY | Q8N5F7 | NOS1AP O75052 | 5 | EBI-721539, EBI-780467 | |
BINARY | Q8N5F7 | PRPF3 O43395 | 2 | EBI-721539, EBI-744322 | |
BINARY | Q8N5F7 | PRPF40A O75400 | 2 | EBI-721539, EBI-473291 | |
BINARY | Q8N5F7 | RBMX2 Q9Y388 | 2 | EBI-721539, EBI-7704044 | |
BINARY | Q8N5F7 | U2AF1 Q01081 | 2 | EBI-721539, EBI-632461 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-311 | Disordered | ||||
Sequence: MAPVSGSRSPDREASGSGGRRRSSSKSPKPSKSARSPRGRRSRSHSCSRSGDRNGLTHQLGGLSQGSRNQSYRSRSRSRSRERPSAPRGIPFASASSSVYYGSYSRPYGSDKPWPSLLDKEREESLRQKRLSERERIGELGAPEVWGLSPKNPEPDSDEHTPVEDEEPKKSTTSASTSEEEKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSDEDNKRRAKKAKKKEKKKKHRSKKYKKKRSKKSRKESSDSSSKESQEEFLENPWKDRTKAEEPSDLIGPEAPKTLTSQDDKPLNYGH | ||||||
Compositional bias | 25-44 | Basic residues | ||||
Sequence: SKSPKPSKSARSPRGRRSRS | ||||||
Compositional bias | 49-73 | Polar residues | ||||
Sequence: RSGDRNGLTHQLGGLSQGSRNQSYR | ||||||
Compositional bias | 115-140 | Basic and acidic residues | ||||
Sequence: PSLLDKEREESLRQKRLSERERIGEL | ||||||
Compositional bias | 153-187 | Basic and acidic residues | ||||
Sequence: PEPDSDEHTPVEDEEPKKSTTSASTSEEEKKKKSS | ||||||
Region | 179-272 | Necessary for interaction with CIR1 | ||||
Sequence: EEEKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSDEDNKRRAKKAKKKEKKKKHRSKKYKKKRSKKSRKESSDSSSKESQEE | ||||||
Compositional bias | 188-206 | Basic residues | ||||
Sequence: RSKERSKKRRKKKSSKRKH | ||||||
Compositional bias | 233-257 | Basic residues | ||||
Sequence: KKAKKKEKKKKHRSKKYKKKRSKKS | ||||||
Compositional bias | 258-290 | Basic and acidic residues | ||||
Sequence: RKESSDSSSKESQEEFLENPWKDRTKAEEPSDL | ||||||
Region | 273-415 | Necessary for interaction with HDAC3 and transcriptional repression | ||||
Sequence: FLENPWKDRTKAEEPSDLIGPEAPKTLTSQDDKPLNYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIASFECSGYVMSGSRHRRMEAVRLRKENQIYSADEKRALASFNQEERRKRENKILASFREMVYRKTKGKDDK |
Sequence similarities
Belongs to the NKAP family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length415
- Mass (Da)47,138
- Last updated2002-10-01 v1
- Checksum44BD1DE20F7ED35A
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A494C050 | A0A494C050_HUMAN | NKAP | 414 |
Sequence caution
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 25-44 | Basic residues | ||||
Sequence: SKSPKPSKSARSPRGRRSRS | ||||||
Compositional bias | 49-73 | Polar residues | ||||
Sequence: RSGDRNGLTHQLGGLSQGSRNQSYR | ||||||
Sequence conflict | 57 | in Ref. 2; BAB15428 | ||||
Sequence: T → A | ||||||
Compositional bias | 115-140 | Basic and acidic residues | ||||
Sequence: PSLLDKEREESLRQKRLSERERIGEL | ||||||
Compositional bias | 153-187 | Basic and acidic residues | ||||
Sequence: PEPDSDEHTPVEDEEPKKSTTSASTSEEEKKKKSS | ||||||
Compositional bias | 188-206 | Basic residues | ||||
Sequence: RSKERSKKRRKKKSSKRKH | ||||||
Compositional bias | 233-257 | Basic residues | ||||
Sequence: KKAKKKEKKKKHRSKKYKKKRSKKS | ||||||
Compositional bias | 258-290 | Basic and acidic residues | ||||
Sequence: RKESSDSSSKESQEEFLENPWKDRTKAEEPSDL | ||||||
Sequence conflict | 280 | in Ref. 3; AAH15354 | ||||
Sequence: D → Y |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY388958 EMBL· GenBank· DDBJ | AAQ90402.1 EMBL· GenBank· DDBJ | mRNA | ||
AK026279 EMBL· GenBank· DDBJ | BAB15428.1 EMBL· GenBank· DDBJ | mRNA | ||
BC015354 EMBL· GenBank· DDBJ | AAH15354.1 EMBL· GenBank· DDBJ | mRNA | ||
BC032442 EMBL· GenBank· DDBJ | AAH32442.1 EMBL· GenBank· DDBJ | mRNA | ||
BC071686 EMBL· GenBank· DDBJ | AAH71686.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. |