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    RFX5 regulatory factor X5 [ Homo sapiens (human) ]

    Gene ID: 5993, updated on 9-Jul-2021

    Summary

    Official Symbol
    RFX5provided by HGNC
    Official Full Name
    regulatory factor X5provided by HGNC
    Primary source
    HGNC:HGNC:9986
    See related
    Ensembl:ENSG00000143390 MIM:601863
    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
    A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 26.5), spleen (RPKM 21.2) and 24 other tissues See more
    Orthologs
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    Try the new Transcript table

    Genomic context

    See RFX5 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (151340640..151347319, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151313116..151319728, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol 4-kinase beta Neighboring gene RNA, 7SL, cytoplasmic 444, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1421 Neighboring gene RFX5 antisense RNA 1 Neighboring gene selenium binding protein 1 Neighboring gene proteasome 20S subunit beta 4

    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     

    General protein information

    Preferred Names
    DNA-binding protein RFX5
    Names
    regulatory factor X 5
    regulatory factor X, 5 (influences HLA class II expression)

    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_007576.1 RefSeqGene

      Range
      5001..11654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_101

    mRNA and Protein(s)

    1. NM_000449.4NP_000440.1  DNA-binding protein RFX5 isoform 1

      See identical proteins and their annotated locations for NP_000440.1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Consensus CDS
      CCDS994.1
      UniProtKB/Swiss-Prot
      P48382
      Related
      ENSP00000290524.4, ENST00000290524.8
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    2. NM_001025603.2NP_001020774.1  DNA-binding protein RFX5 isoform 1

      See identical proteins and their annotated locations for NP_001020774.1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Consensus CDS
      CCDS994.1
      UniProtKB/Swiss-Prot
      P48382
      Related
      ENSP00000389130.2, ENST00000452671.7
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    3. NM_001379412.1NP_001366341.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    4. NM_001379413.1NP_001366342.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    5. NM_001379414.1NP_001366343.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    6. NM_001379415.1NP_001366344.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    7. NM_001379416.1NP_001366345.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Related
      ENSP00000376502.3, ENST00000392746.7
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    8. NM_001379417.1NP_001366346.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    9. NM_001379418.1NP_001366347.1  DNA-binding protein RFX5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2886
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:95166
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:407614
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    10. NM_001379419.1NP_001366348.1  DNA-binding protein RFX5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2878
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:80126
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:367574
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    11. NM_001379420.1NP_001366349.1  DNA-binding protein RFX5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL391069
      Conserved Domains (3) summary
      pfam18326
      Location:2878
      RFX5_N; RFX5 N-terminal domain
      pfam02257
      Location:80126
      RFX_DNA_binding; RFX DNA-binding domain
      pfam14621
      Location:367574
      RFX5_DNA_bdg; RFX5 DNA-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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      151340640..151347319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448791.1XP_024304559.1  DNA-binding protein RFX5 isoform X2

      Conserved Domains (1) summary
      pfam14621
      Location:236443
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    2. XM_017002000.1XP_016857489.1  DNA-binding protein RFX5 isoform X2

      Conserved Domains (1) summary
      pfam14621
      Location:236443
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    3. XM_017001999.1XP_016857488.1  DNA-binding protein RFX5 isoform X2

      Conserved Domains (1) summary
      pfam14621
      Location:236443
      RFX5_DNA_bdg; RFX5 DNA-binding domain
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