NKAP
entrez
79576
canonical
uniprot
Q8N5F7
canonical
ensembl
ENSG00000101882
resolver
ensp
ENSP00000360464
resolver
enst
ENST00000371410
resolver
genesymbol
NKAP
resolver
hgnc
HGNC:29873
resolver
uniprot
Q6IPW6
resolver
uniprot
Q96BQ2
resolver
uniprot
Q9H638
resolver
uniprot_entry
NKAP_HUMAN
resolver
uniprot_sec
Q6IPW6
resolver
uniprot_sec
Q96BQ2
resolver
uniprot_sec
Q9H638
resolver
amino_acid_sequence
MAPVSGSRSPDREASGSGGRRRSSSKSPKPSKSARSPRGRRSRSHSCSRSGDRNGLTHQLGGLSQGSRNQSYRSRSRSRSRERPSAPRGIPFASASSSVYYGSYSRPYGSDKPWPSLLDKEREESLRQKRLSERERIGELGAPEVWGLSPKNPEPDSDEHTPVEDEEPKKSTTSASTSEEEKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSDEDNKRRAKKAKKKEKKKKHRSKKYKKKRSKKSRKESSDSSSKESQEEFLENPWKDRTKAEEPSDLIGPEAPKTLTSQDDKPLNYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIASFECSGYVMSGSRHRRMEAVRLRKENQIYSADEKRALASFNQEERRKRENKILASFREMVYRKTKGKDDK
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039]: An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. {ECO:0000269|PubMed:26358559, ECO:0000269|PubMed:31587868}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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. {ECO:0000269|PubMed:14550261, ECO:0000269|PubMed:19409814, ECO:0000269|PubMed:31587868}.
uniprot
proteins
mass_dalton
47138
uniprot
proteins
protein_family
NKAP family
uniprot
proteins
pubmed
14550261
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19409814
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26358559
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31587868
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14550261}.
uniprot
proteins