NKAP (NFKB activating protein)

2016-10-01  

Identity

HGNC
LOCATION
Xq24
LOCUSID
ALIAS
MRXSHD

Other Information

Locus ID:

NCBI: 79576
MIM: 300766
HGNC: 29873
Ensembl: ENSG00000101882

Variants:

dbSNP: 79576
ClinVar: 79576
TCGA: ENSG00000101882
COSMIC: NKAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101882ENST00000371410Q8N5F7
ENSG00000101882ENST00000652253A0A494C050

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194098142009NKAP is a transcriptional repressor of notch signaling and is required for T cell development.43
216249372011NKAP is required for T cell maturation and acquisition of functional competency.32
145502612003Identification of a nuclear protein that promotes NF-kappaB activation.22
276948842016SUMOylated NKAP is essential for chromosome alignment by anchoring CENP-E to kinetochores.11
188049832009Association of genetic profiles to Crohn's disease by linear combinations of single nucleotide polymorphisms.1
312776842019NKAP alters tumor immune microenvironment and promotes glioma growth via Notch1 signaling.1
315454742019The oncogenic role of NKAP in the growth and invasion of colon cancer cells.0
315878682019Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.0

Citation

Dessen P

NKAP (NFKB activating protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56120/nkap