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    RFX1 regulatory factor X1 [ Homo sapiens (human) ]

    Gene ID: 5989, updated on 5-Jan-2022

    Summary

    Official Symbol
    RFX1provided by HGNC
    Official Full Name
    regulatory factor X1provided by HGNC
    Primary source
    HGNC:HGNC:9982
    See related
    Ensembl:ENSG00000132005 MIM:600006
    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
    EFC; RFX
    Summary
    This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in testis (RPKM 5.4), spleen (RPKM 2.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RFX1 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13961530..14007514, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14072342..14117132, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil and C2 domain containing 1A Neighboring gene podocan like 1 Neighboring gene DDB1 and CUL4 associated factor 15 Neighboring gene uncharacterized LOC107985309 Neighboring gene CRISPRi-validated cis-regulatory element chr19.2299 Neighboring gene relaxin 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

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    MHC class II regulatory factor RFX1
    Names
    MHC class II regulatory factor RFX
    enhancer factor C
    regulatory factor X, 1 (influences HLA class II expression)
    trans-acting regulatory factor 1
    transcription factor RFX1

    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_051220.1 RefSeqGene

      Range
      6195..50985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002918.5NP_002909.4  MHC class II regulatory factor RFX1

      See identical proteins and their annotated locations for NP_002909.4

      Status: REVIEWED

      Source sequence(s)
      AC020916, AK309824, BC049826, BM662273
      Consensus CDS
      CCDS12301.1
      UniProtKB/Swiss-Prot
      P22670
      Related
      ENSP00000254325.3, ENST00000254325.9
      Conserved Domains (3) summary
      pfam02257
      Location:435511
      RFX_DNA_binding; RFX DNA-binding domain
      pfam03153
      Location:75285
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam04589
      Location:224371
      RFX1_trans_act; RFX1 transcription activation region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      13961530..14007514 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528170.2XP_011526472.1  MHC class II regulatory factor RFX1 isoform X3

      See identical proteins and their annotated locations for XP_011526472.1

      Conserved Domains (2) summary
      pfam02257
      Location:436512
      RFX_DNA_binding; RFX DNA-binding domain
      pfam04589
      Location:115372
      RFX1_trans_act; RFX1 transcription activation region
    2. XM_011528167.2XP_011526469.1  MHC class II regulatory factor RFX1 isoform X1

      See identical proteins and their annotated locations for XP_011526469.1

      Conserved Domains (3) summary
      pfam02257
      Location:545621
      RFX_DNA_binding; RFX DNA-binding domain
      pfam03153
      Location:75280
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam04589
      Location:224481
      RFX1_trans_act; RFX1 transcription activation region
    3. XM_011528168.2XP_011526470.1  MHC class II regulatory factor RFX1 isoform X2

      Conserved Domains (3) summary
      pfam02257
      Location:451523
      RFX_DNA_binding; RFX DNA-binding domain
      pfam03153
      Location:75280
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam04589
      Location:224451
      RFX1_trans_act; RFX1 transcription activation region
    4. XM_011528165.2XP_011526467.1  MHC class II regulatory factor RFX1 isoform X1

      See identical proteins and their annotated locations for XP_011526467.1

      Conserved Domains (3) summary
      pfam02257
      Location:545621
      RFX_DNA_binding; RFX DNA-binding domain
      pfam03153
      Location:75280
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam04589
      Location:224481
      RFX1_trans_act; RFX1 transcription activation region
    5. XM_011528169.2XP_011526471.1  MHC class II regulatory factor RFX1 isoform X3

      See identical proteins and their annotated locations for XP_011526471.1

      Conserved Domains (2) summary
      pfam02257
      Location:436512
      RFX_DNA_binding; RFX DNA-binding domain
      pfam04589
      Location:115372
      RFX1_trans_act; RFX1 transcription activation region
    6. XM_011528166.2XP_011526468.1  MHC class II regulatory factor RFX1 isoform X1

      See identical proteins and their annotated locations for XP_011526468.1

      Conserved Domains (3) summary
      pfam02257
      Location:545621
      RFX_DNA_binding; RFX DNA-binding domain
      pfam03153
      Location:75280
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam04589
      Location:224481
      RFX1_trans_act; RFX1 transcription activation region

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p13 PATCHES

      Range
      173371..218161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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