Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

NKAP

contributors: mct - updated : 21-11-2019

HGNC name	NFKB activating protein [Homo sapiens
HGNC id	29873

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DDMHH developmental delay, tall stature with Marfanoid habitus, and hypotonia
Location	Xq24      Physical location : 119.059.013 - 119.077.735
Synonym symbol(s)	FLJ22626

DNA

TYPE	functioning gene
STRUCTURE	23.08 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024528 9 - 5942 NP_078804 - 415 - 2016 27694884

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon thalamus     Homo sapiens   brain limbic system hippocampus     Homo sapiens Olfactory (smell) olfactory bulb         Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	nuclear speckle protein

basic FUNCTION	NKAP functions as a transcriptional repressor, acting on NOTCH1 target genes, and is required for alphabeta T cell development
	NKAP is one of a very small number of transcriptional regulators that is absolutely required for adult hematopoietic stem cells (HSCs) maintenance and survival
	NKAP is required for T cell maturation and the acquisition of functional competency
	NKAP and HDAC3 functionally interact to control invariant natural killer T cell development
	potential additional role of NKAP outside of subventricular zone (SVZ) progenitor cells
	NKAP is a novel and key regulator of mitosis, and its dysregulation might contribute to tumorigenesis by causing chromosomal instability
	NKAP is required for conventional T cell maturation as it prevents complement-mediated attack in the periphery
	NKAP functions in different complexes in different cell types
	involved in transcriptional repression, immune cell development, maturation, acquisition of functional competency and maintenance of hematopoiesis
	NKAP promoted the proliferation, migration and invasion of Ewing sarcoma (ES) cells, at least partly, through the AKT signaling pathway
	nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins
	essential roles of NKAP in neural development as well as in bone and connective tissue
	critical role of NKAP in transcriptional regulation
	multi-functional nuclear protein that has been shown to be essential for hematopoiesis
	may limit cellular stress that can trigger cell cycle withdrawal or cell death, a role critical for the maintenance of a viable pool of hematopoietic progenitors

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

is a part of the spliceosomal complex, but the dysfunction of NKAP may not cause increased aberrant or alternative splicing

INTERACTION

DNA

RNA

small molecule

protein	NKAP is critical for chromosome alignment through anchoring CENPE to kinetochores
	interaction between NKAP and HDAC3 is critical for T Cell maturation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DDMHH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in gliomas could promote tumor growth by contributing to a NOTCH1-dependent immune-suppressive tumor microenvironment

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Nkap mutant zebrafish with a C-terminally truncated Nkap demonstrate severe developmental defects