UniProtKB - Q8N5F7 (NKAP_HUMAN)
Protein
NF-kappa-B-activating protein
Gene
NKAP
Organism
Homo sapiens (Human)
Status
Functioni
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.3 Publications
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- chromatin DNA binding Source: Ensembl
- RNA binding Source: UniProtKB
GO - Biological processi
- granulocyte differentiation Source: Ensembl
- hematopoietic stem cell proliferation Source: Ensembl
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- Notch signaling pathway Source: UniProtKB-KW
- positive regulation of alpha-beta T cell differentiation Source: UniProtKB
- regulation of gene expression Source: GO_Central
- stem cell population maintenance Source: Ensembl
- T cell differentiation in thymus Source: Ensembl
Keywordsi
Molecular function | Repressor |
Biological process | Notch signaling pathway, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8N5F7 |
Names & Taxonomyi
Protein namesi | Recommended name: NF-kappa-B-activating protein |
Gene namesi | Name:NKAP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29873, NKAP |
MIMi | 300766, gene |
neXtProti | NX_Q8N5F7 |
VEuPathDBi | HostDB:ENSG00000101882.9 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083895 | 330 | R → C in MRXSHD. 1 Publication | 1 | |
Natural variantiVAR_083896 | 330 | R → H in MRXSHD. 1 Publication | 1 | |
Natural variantiVAR_083897 | 333 | R → Q in MRXSHD; unknown pathological significance. 2 Publications | 1 | |
Natural variantiVAR_083898 | 337 | I → T in MRXSHD. 1 Publication | 1 | |
Natural variantiVAR_083899 | 361 | R → Q in MRXSHD; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 79576 |
MalaCardsi | NKAP |
MIMi | 301039, phenotype |
OpenTargetsi | ENSG00000101882 |
PharmGKBi | PA162397584 |
Miscellaneous databases
Pharosi | Q8N5F7, Tbio |
Genetic variation databases
BioMutai | NKAP |
DMDMi | 74728990 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000259645 | 1 – 415 | NF-kappa-B-activating proteinAdd BLAST | 415 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 7 | PhosphoserineCombined sources | 1 | |
Modified residuei | 9 | PhosphoserineCombined sources | 1 | |
Modified residuei | 50 | PhosphoserineCombined sources | 1 | |
Modified residuei | 64 | PhosphoserineCombined sources | 1 | |
Modified residuei | 112 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 149 | PhosphoserineCombined sources | 1 | |
Modified residuei | 157 | PhosphoserineCombined sources | 1 | |
Modified residuei | 161 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 283 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 305 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8N5F7 |
jPOSTi | Q8N5F7 |
MassIVEi | Q8N5F7 |
MaxQBi | Q8N5F7 |
PaxDbi | Q8N5F7 |
PeptideAtlasi | Q8N5F7 |
PRIDEi | Q8N5F7 |
ProteomicsDBi | 72046 |
PTM databases
iPTMneti | Q8N5F7 |
PhosphoSitePlusi | Q8N5F7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000101882, Expressed in quadriceps femoris and 203 other tissues |
ExpressionAtlasi | Q8N5F7, baseline and differential |
Genevisiblei | Q8N5F7, HS |
Organism-specific databases
HPAi | ENSG00000101882, Low tissue specificity |
Interactioni
Subunit structurei
Component of the Notch corepressor complex.
Interacts with CIR1 and HDAC3.
1 PublicationBinary interactionsi
Hide detailsQ8N5F7
Protein-protein interaction databases
BioGRIDi | 122723, 77 interactors |
IntActi | Q8N5F7, 65 interactors |
MINTi | Q8N5F7 |
STRINGi | 9606.ENSP00000360464 |
Miscellaneous databases
RNActi | Q8N5F7, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 179 – 272 | Necessary for interaction with CIR11 PublicationAdd BLAST | 94 | |
Regioni | 273 – 415 | Necessary for interaction with HDAC3 and transcriptional repression1 PublicationAdd BLAST | 143 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 5 – 105 | Ser-richAdd BLAST | 101 | |
Compositional biasi | 182 – 259 | Lys-richAdd BLAST | 78 |
Sequence similaritiesi
Belongs to the NKAP family.Curated
Phylogenomic databases
eggNOGi | KOG2812, Eukaryota |
GeneTreei | ENSGT00940000160787 |
HOGENOMi | CLU_032439_1_0_1 |
InParanoidi | Q8N5F7 |
OMAi | VERWPND |
OrthoDBi | 1561377at2759 |
PhylomeDBi | Q8N5F7 |
TreeFami | TF315333 |
Family and domain databases
InterProi | View protein in InterPro IPR040466, NKAP IPR009269, NKAP_C |
PANTHERi | PTHR13087, PTHR13087, 1 hit |
Pfami | View protein in Pfam PF06047, Nkap_C, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q8N5F7-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAPVSGSRSP DREASGSGGR RRSSSKSPKP SKSARSPRGR RSRSHSCSRS
60 70 80 90 100
GDRNGLTHQL GGLSQGSRNQ SYRSRSRSRS RERPSAPRGI PFASASSSVY
110 120 130 140 150
YGSYSRPYGS DKPWPSLLDK EREESLRQKR LSERERIGEL GAPEVWGLSP
160 170 180 190 200
KNPEPDSDEH TPVEDEEPKK STTSASTSEE EKKKKSSRSK ERSKKRRKKK
210 220 230 240 250
SSKRKHKKYS EDSDSDSDSE TDSSDEDNKR RAKKAKKKEK KKKHRSKKYK
260 270 280 290 300
KKRSKKSRKE SSDSSSKESQ EEFLENPWKD RTKAEEPSDL IGPEAPKTLT
310 320 330 340 350
SQDDKPLNYG HALLPGEGAA MAEYVKAGKR IPRRGEIGLT SEEIASFECS
360 370 380 390 400
GYVMSGSRHR RMEAVRLRKE NQIYSADEKR ALASFNQEER RKRENKILAS
410
FREMVYRKTK GKDDK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A494C050 | A0A494C050_HUMAN | NF-kappa-B-activating protein | NKAP | 414 | Annotation score: |
Sequence cautioni
The sequence AAH71686 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 57 | T → A in BAB15428 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 280 | D → Y in AAH15354 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053799 | 115 | P → H. Corresponds to variant dbSNP:rs34728541Ensembl. | 1 | |
Natural variantiVAR_083895 | 330 | R → C in MRXSHD. 1 Publication | 1 | |
Natural variantiVAR_083896 | 330 | R → H in MRXSHD. 1 Publication | 1 | |
Natural variantiVAR_083897 | 333 | R → Q in MRXSHD; unknown pathological significance. 2 Publications | 1 | |
Natural variantiVAR_083898 | 337 | I → T in MRXSHD. 1 Publication | 1 | |
Natural variantiVAR_083899 | 361 | R → Q in MRXSHD; unknown pathological significance. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY388958 mRNA Translation: AAQ90402.1 AK026279 mRNA Translation: BAB15428.1 BC015354 mRNA Translation: AAH15354.1 BC032442 mRNA Translation: AAH32442.1 BC071686 mRNA Translation: AAH71686.1 Sequence problems. |
CCDSi | CCDS14592.1 |
RefSeqi | NP_078804.2, NM_024528.3 |
Genome annotation databases
Ensembli | ENST00000371410; ENSP00000360464; ENSG00000101882 |
GeneIDi | 79576 |
KEGGi | hsa:79576 |
UCSCi | uc004esh.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY388958 mRNA Translation: AAQ90402.1 AK026279 mRNA Translation: BAB15428.1 BC015354 mRNA Translation: AAH15354.1 BC032442 mRNA Translation: AAH32442.1 BC071686 mRNA Translation: AAH71686.1 Sequence problems. |
CCDSi | CCDS14592.1 |
RefSeqi | NP_078804.2, NM_024528.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6QDV | electron microscopy | 3.30 | Z | 329-358 | [»] | |
SMRi | Q8N5F7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122723, 77 interactors |
IntActi | Q8N5F7, 65 interactors |
MINTi | Q8N5F7 |
STRINGi | 9606.ENSP00000360464 |
PTM databases
iPTMneti | Q8N5F7 |
PhosphoSitePlusi | Q8N5F7 |
Genetic variation databases
BioMutai | NKAP |
DMDMi | 74728990 |
Proteomic databases
EPDi | Q8N5F7 |
jPOSTi | Q8N5F7 |
MassIVEi | Q8N5F7 |
MaxQBi | Q8N5F7 |
PaxDbi | Q8N5F7 |
PeptideAtlasi | Q8N5F7 |
PRIDEi | Q8N5F7 |
ProteomicsDBi | 72046 |
Protocols and materials databases
Antibodypediai | 364, 134 antibodies |
DNASUi | 79576 |
Genome annotation databases
Ensembli | ENST00000371410; ENSP00000360464; ENSG00000101882 |
GeneIDi | 79576 |
KEGGi | hsa:79576 |
UCSCi | uc004esh.4, human |
Organism-specific databases
CTDi | 79576 |
DisGeNETi | 79576 |
GeneCardsi | NKAP |
HGNCi | HGNC:29873, NKAP |
HPAi | ENSG00000101882, Low tissue specificity |
MalaCardsi | NKAP |
MIMi | 300766, gene 301039, phenotype |
neXtProti | NX_Q8N5F7 |
OpenTargetsi | ENSG00000101882 |
PharmGKBi | PA162397584 |
VEuPathDBi | HostDB:ENSG00000101882.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2812, Eukaryota |
GeneTreei | ENSGT00940000160787 |
HOGENOMi | CLU_032439_1_0_1 |
InParanoidi | Q8N5F7 |
OMAi | VERWPND |
OrthoDBi | 1561377at2759 |
PhylomeDBi | Q8N5F7 |
TreeFami | TF315333 |
Enzyme and pathway databases
PathwayCommonsi | Q8N5F7 |
Miscellaneous databases
BioGRID-ORCSi | 79576, 348 hits in 505 CRISPR screens |
ChiTaRSi | NKAP, human |
GeneWikii | NKAP |
GenomeRNAii | 79576 |
Pharosi | Q8N5F7, Tbio |
PROi | PR:Q8N5F7 |
RNActi | Q8N5F7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101882, Expressed in quadriceps femoris and 203 other tissues |
ExpressionAtlasi | Q8N5F7, baseline and differential |
Genevisiblei | Q8N5F7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR040466, NKAP IPR009269, NKAP_C |
PANTHERi | PTHR13087, PTHR13087, 1 hit |
Pfami | View protein in Pfam PF06047, Nkap_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NKAP_HUMAN | |
Accessioni | Q8N5F7Primary (citable) accession number: Q8N5F7 Secondary accession number(s): Q6IPW6, Q96BQ2, Q9H638 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | October 1, 2002 | |
Last modified: | February 10, 2021 | |
This is version 146 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families