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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RFX1
regulatory factor X1
Chromosome 19 · 19p13.12
NCBI Gene: 5989Ensembl: ENSG00000132005.10HGNC: HGNC:9982UniProt: P22670
95PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleoplasmprotein bindingRNA polymerase II cis-regulatory region sequence-specific DNA binding
✦AI Summary

RFX1 (regulatory factor X1) is a transcription factor essential for MHC class II gene expression through binding to X-box sequences 1. Located on chromosome 19.1, RFX1 functions as both a transcriptional activator and repressor depending on cellular context 12. The protein contains a characteristic DNA-binding domain and is broadly expressed across multiple tissue types, with particularly high expression in immune, gastrointestinal, reproductive, and nervous systems 2. RFX1 undergoes alternative splicing that can produce isoforms with altered function - exon 2 skipping creates an N-terminal truncated form that loses transcriptional repression ability, leading to oncogene activation 3. Post-translational acetylation by KAT7 regulates RFX1 stability and activity, with acetylation promoting proteasomal degradation and reducing its repressive function on target genes like FGF1 4. Disease relevance includes tumor suppressor roles through c-myc downregulation 5, but also oncogenic functions when dysregulated through hypermethylation in gliomas 5 or aberrant splicing in hepatocellular carcinoma 3. In colon cancer, high RFX1 expression correlates with poor prognosis and altered immune microenvironment 6. Additionally, RFX1 deficiency contributes to neuronal damage in Parkinson's disease through the KAT7/RFX1/FGF1 axis 4.

Sources cited
1
RFX1 location on chromosome 19p13.1 and role in MHC class II gene expression
PMID: 8661125
2
Broad tissue expression patterns and DNA-binding domain characteristics
PMID: 29510665
3
Alternative splicing regulation by RBM39 and oncogenic role in hepatocellular carcinoma
PMID: 40033026
4
KAT7-mediated acetylation regulation and role in neuronal damage
PMID: 40192836
5
Tumor suppressor function and epigenetic silencing in gliomas
PMID: 15334059
6
Prognostic significance and immune microenvironment regulation in colon cancer
PMID: 41425715
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FCGRTShared pathway100%PRG2Shared pathway100%CLEC17AShared pathway100%CLEC4FShared pathway100%PKHD1L1Shared pathway100%VPREB3Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
RFX1FCGRTPRG2CLEC17ACLEC4FPKHD1L1VPREB3
PROTEIN STRUCTURE
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PDB1DP7 · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.45 [0.34–0.59]
RankingsWhere RFX1 stands among ~20K protein-coding genes
  • #5,058of 20,598
    Most Researched95 · top quartile
  • #3,963of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedRFX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypoxia-induced exosomes facilitate lung pre-metastatic niche formation in hepatocellular carcinoma through the miR-4508-RFX1-IL17A-p38 MAPK-NF-κB pathway.
PMID: 37781522
Int J Biol Sci · 2023
1.00
2
Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins.
PMID: 8661125
Genomics · 1996
0.90
3
RBM39 promotes hepatocarcinogenesis by regulating RFX1's alternative splicing and subsequent activation of integrin signaling pathway.
PMID: 40033026
Oncogene · 2025
0.80
4
Identification of an epigenetically silenced gene, RFX1, in human glioma cells using restriction landmark genomic scanning.
PMID: 15334059
Oncogene · 2004
0.70
5
Discovery of Novel Human Gene Regulatory Modules from Gene Co-expression and Promoter Motif Analysis.
PMID: 28717181
Sci Rep · 2017
0.60