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RFX1 regulatory factor X1 [ Homo sapiens (human) ]

Gene ID: 5989, updated on 7-Jul-2019

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

Genomic context

See RFX1 in Genome Data Viewer
Location:
19p13.12
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13961530..14007514, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14072342..14117134, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 57 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 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 FunctionsWhat'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
immune response TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    6193..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 Annotation Release 109 details...Open this link in a new tab

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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