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

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

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

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