NKAP - NFKB activating protein Gene

Homo sapiens

Also known as MRXSHD

Gene ID: 79576 | Gene type: protein coding

About NKAP

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,920,672-119,943,751 (from NCBI)

This gene has 5 transcripts (splice variants), 122 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 6.5), ovary (RPKM 6.4) and 25 other tissues.

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]

NKAP Products(1)

mRNA	Protein	Name
NM_024528.4	NP_078804.2	NF-kappa-B-activating protein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	19409814	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19409814	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19409814	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	31587868	GOA
involved in positive regulation of alpha-beta T cell differentiation	IMP IMP: Inferred from mutant phenotype	19409814	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NKAP Protein Structure

SynMuv_product

0
100
200
300
415 a.a.

Protein Preferred Names

Protein Names

NF-kappa-B-activating protein

NF-kappaB activating protein

NKAP Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NKAP	Q8N5F7	DDX41	Homo sapiens	Q9UJV9	Anti Tag CoIP	33961781
Intra	NKAP	Q8N5F7	DDX41	Homo sapiens	Q9UJV9	Anti Tag CoIP	28514442
Intra	NKAP	Q8N5F7	DHX8	Homo sapiens	Q14562	Anti Tag CoIP	33961781
Intra	NKAP	Q8N5F7	DHX8	Homo sapiens	Q14562	Anti Tag CoIP	22365833
Intra	NKAP	Q8N5F7	DHX8	Homo sapiens	Q14562	Y2H	22365833
Intra	NKAP	Q8N5F7	AP1M1	Homo sapiens	Q9BXS5	Validated Y2H	32296183
Intra	NKAP	Q8N5F7	U2AF1	Homo sapiens	Q01081	Y2H	22365833
Intra	NKAP	Q8N5F7	PRPF3	Homo sapiens	O43395	Y2H	22365833
Intra	NKAP	Q8N5F7	NOS1AP	Homo sapiens	O75052	Anti Tag CoIP	33961781
Intra	NKAP	Q8N5F7	NOS1AP	Homo sapiens	O75052	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type

MRXSHD	Intellectual Developmental Disorder, X-Linked, Syndromic, Hackman-Di Donato Type
Mental Retardation, X-Linked, With Marfanoid Habitus, 2	Intellectual Developmental Disorder, X-Linked Syndromic, Hackman-Di Donato Type

Scoliosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09315	NKAP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NKAP	VGNC	VGNC:43826
Mus musculus	NKAP	MGD	MGI:1914300
Rattus norvegicus	NKAP	RGD	RGD:1565955
Macaca mulatta	NKAP	VGNC	VGNC:75280
Bos taurus	NKAP	VGNC	VGNC:32092
Felis catus	NKAP	VGNC	VGNC:63812

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