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    RFXAP regulatory factor X associated protein [ Homo sapiens (human) ]

    Gene ID: 5994, updated on 9-Jul-2021

    Summary

    Official Symbol
    RFXAPprovided by HGNC
    Official Full Name
    regulatory factor X associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9988
    See related
    Ensembl:ENSG00000133111 MIM:601861
    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
    Summary
    Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 3.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RFXAP in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (36819222..36829104)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (37393359..37403241)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 2 binding protein pseudogene 3 Neighboring gene nudE neurodevelopment protein 1 pseudogene 2 Neighboring gene SMAD family member 9 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1

    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

    General protein information

    Preferred Names
    regulatory factor X-associated protein
    Names
    RFX DNA-binding complex 36 kDa subunit
    RFX-associated 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.

    Genomic

    1. NG_007876.1 RefSeqGene

      Range
      5001..15402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_103

    mRNA and Protein(s)

    1. NM_000538.4NP_000529.1  regulatory factor X-associated protein

      See identical proteins and their annotated locations for NP_000529.1

      Status: REVIEWED

      Source sequence(s)
      AL159973, BC026088, BI823132
      Consensus CDS
      CCDS9359.1
      UniProtKB/Swiss-Prot
      O00287
      Related
      ENSP00000255476.3, ENST00000255476.3
      Conserved Domains (1) summary
      pfam15289
      Location:140243
      RFXA_RFXANK_bdg; Regulatory factor X-associated C-terminal binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      36819222..36829104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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