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NKAP NFKB activating protein [ Homo sapiens (human) ]

Gene ID: 79576, updated on 28-Mar-2020

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
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

Genomic context

See NKAP in Genome Data Viewer
Location:
Xq24
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (119920672..119943751, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119059013..119077735, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A1 Neighboring gene Sharpr-MPRA regulatory region 5043 Neighboring gene A-kinase anchoring protein 14 Neighboring gene uncharacterized LOC105373323 Neighboring gene Rhox homeobox family member 1 pseudogene 3 Neighboring gene Rhox homeobox family member 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22626

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
granulocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NF-kappa-B-activating protein
Names
NF-kappaB activating protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_021260.1 RefSeqGene

    Range
    5001..23723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024528.4NP_078804.2  NF-kappa-B-activating protein

    See identical proteins and their annotated locations for NP_078804.2

    Status: REVIEWED

    Source sequence(s)
    AC002477, AY388958, BC015354
    Consensus CDS
    CCDS14592.1
    UniProtKB/Swiss-Prot
    Q8N5F7
    Related
    ENSP00000360464.3, ENST00000371410.5
    Conserved Domains (2) summary
    pfam06047
    Location:308407
    SynMuv_product; Ras-induced vulval development antagonist
    pfam15692
    Location:120177
    NKAP; NF-kappa-B-activating protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    119920672..119943751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029842.1XP_016885331.1  NF-kappa-B-activating protein isoform X1

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