NKAP NFKB activating protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NKAPprovided by HGNC
Official Full Name: NFKB activating proteinprovided by HGNC
Primary source: HGNC:HGNC:29873
See related: Ensembl:ENSG00000101882 MIM:300766; AllianceGenome:HGNC:29873
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRXSHD
Summary: This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]
Expression: Ubiquitous expression in placenta (RPKM 6.5), ovary (RPKM 6.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq24

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (119920672..119943751, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (118295798..118318877, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (119054635..119077714, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.
Title: From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.
RNA binding protein NKAP protects glioblastoma cells from ferroptosis by promoting SLC7A11 mRNA splicing in an m(6)A-dependent manner.
Title: RNA binding protein NKAP protects glioblastoma cells from ferroptosis by promoting SLC7A11 mRNA splicing in an m(6)A-dependent manner.
MARCKS cooperates with NKAP to activate NF-kB signaling in smoke-related lung cancer.
Title: MARCKS cooperates with NKAP to activate NF-kB signaling in smoke-related lung cancer.
NKAP promotes renal cell carcinoma growth via AKT/mTOR signalling pathway.
Title: NKAP promotes renal cell carcinoma growth via AKT/mTOR signalling pathway.
The critical role of NKAP in transcriptional regulation.
Title: Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Study determines that NKAP was upregulated in colon cancer. Its knockdown resulted in a significant decrease in the proliferation and invasion of colon cancer cells, as well as induction of apoptosis and autophagy, whereas its overexpression promoted cell proliferation and invasion, and inhibited apoptosis and autophagy.
Title: The oncogenic role of NKAP in the growth and invasion of colon cancer cells.
Observations suggest that NKAP promotes glioma growth by TAM chemoattraction through upregulation of Notch1.
Title: NKAP alters tumor immune microenvironment and promotes glioma growth via Notch1 signaling.
SUMOylated NKAP is essential for chromosome alignment by anchoring CENP-E to kinetochores
Title: SUMOylated NKAP is essential for chromosome alignment by anchoring CENP-E to kinetochores.
NKAP is required for T cell maturation and the acquisition of functional competency
Title: NKAP is required for T cell maturation and acquisition of functional competency.
NKAP functions as a transcriptional repressor, acting on Notch target genes, and is required for alphabeta T cell development.
Title: NKAP is a transcriptional repressor of notch signaling and is required for T cell development.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type MedGen: C5393302 OMIM: 301039 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH69561 (e-PCR)
- UniSTS:20293

RH77706 (e-PCR)
- UniSTS:12615

GDB:631802 (e-PCR)
- UniSTS:158429

D20S1001 (e-PCR)
- UniSTS:154617

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in granulocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: NF-kappa-B-activating protein

Names: NF-kappaB activating protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.