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    RFX1 regulatory factor X1 [ Homo sapiens (human) ]

    Gene ID: 5989, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:9982
    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
    NEW
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    Genomic context

    See RFX1 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13961530..14006816, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14087814..14133810, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 10218 Neighboring gene coiled-coil and C2 domain containing 1A Neighboring gene MPRA-validated peak3378 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14046993-14047750 Neighboring gene podocan like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14069830-14070403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14070404-14070976 Neighboring gene DDB1 and CUL4 associated factor 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090312-14090838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090839-14091365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14091366-14091891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14093768-14094294 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14096053-14096944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14097836-14098726 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116358-14116886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116887-14117414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14117415-14117942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14134324-14134824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14134825-14135325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14153631-14154131 Neighboring gene interleukin 27 receptor subunit alpha 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 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13961530..14006816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528170.3XP_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_047439194.1XP_047295150.1  MHC class II regulatory factor RFX1 isoform X4

      UniProtKB/Swiss-Prot
      P22670
    3. XM_011528167.3XP_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
    4. XM_047439195.1XP_047295151.1  MHC class II regulatory factor RFX1 isoform X5

    5. XM_047439193.1XP_047295149.1  MHC class II regulatory factor RFX1 isoform X4

      UniProtKB/Swiss-Prot
      P22670
    6. XM_047439192.1XP_047295148.1  MHC class II regulatory factor RFX1 isoform X2

    7. XM_011528166.3XP_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
    8. XM_011528169.3XP_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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      173371..219355 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332705.1XP_054188680.1  MHC class II regulatory factor RFX1 isoform X4

      UniProtKB/Swiss-Prot
      P22670
    2. XM_054332702.1XP_054188677.1  MHC class II regulatory factor RFX1 isoform X3

    3. XM_054332700.1XP_054188675.1  MHC class II regulatory factor RFX1 isoform X1

    4. XM_054332703.1XP_054188678.1  MHC class II regulatory factor RFX1 isoform X3

    5. XM_054332706.1XP_054188681.1  MHC class II regulatory factor RFX1 isoform X5

    6. XM_054332704.1XP_054188679.1  MHC class II regulatory factor RFX1 isoform X4

      UniProtKB/Swiss-Prot
      P22670
    7. XM_054332701.1XP_054188676.1  MHC class II regulatory factor RFX1 isoform X2

    8. XM_054332699.1XP_054188674.1  MHC class II regulatory factor RFX1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14087814..14133810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321679.1XP_054177654.1  MHC class II regulatory factor RFX1 isoform X4

    2. XM_054321676.1XP_054177651.1  MHC class II regulatory factor RFX1 isoform X3

    3. XM_054321674.1XP_054177649.1  MHC class II regulatory factor RFX1 isoform X1

    4. XM_054321677.1XP_054177652.1  MHC class II regulatory factor RFX1 isoform X3

    5. XM_054321680.1XP_054177655.1  MHC class II regulatory factor RFX1 isoform X5

    6. XM_054321678.1XP_054177653.1  MHC class II regulatory factor RFX1 isoform X4

    7. XM_054321675.1XP_054177650.1  MHC class II regulatory factor RFX1 isoform X2

    8. XM_054321673.1XP_054177648.1  MHC class II regulatory factor RFX1 isoform X1