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    NKAP NFKB activating protein [ Homo sapiens (human) ]

    Gene ID: 79576, updated on 10-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NKAP in Genome Data Viewer
    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_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29902 Neighboring gene ring finger protein 113A Neighboring gene NADH:ubiquinone oxidoreductase subunit A1 Neighboring gene Sharpr-MPRA regulatory region 5043 Neighboring gene A-kinase anchoring protein 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:119077451-119077951 Neighboring gene uncharacterized LOC124905209 Neighboring gene Rhox homeobox family member 1 pseudogene 3

    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

    Clone Names

    • FLJ22626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q6IPW6, Q8N5F7, Q96BQ2, Q9H638
      UniProtKB/TrEMBL
      A0A494C050
      Related
      ENSP00000360464.3, ENST00000371410.5
      Conserved Domains (2) summary
      pfam06047
      Location:306405
      SynMuv_product; Ras-induced vulval development antagonist
      pfam15692
      Location:119166
      NKAP; NF-kappa-B-activating protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118295798..118318877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)