Details for: RFX5

Gene ID: 5993

Symbol: RFX5

Ensembl ID: ENSG00000143390

Description: regulatory factor X5

Associated with

  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Intracellular membrane-bounded organelle
    (GO:0043231)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Positive regulation of mhc class ii biosynthetic process
    (GO:0045348)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulator complex
    (GO:0090575)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific dna binding
    (GO:0043565)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 61.9755
    Cell Significance Index: -9.6400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 31.3038
    Cell Significance Index: -7.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.6216
    Cell Significance Index: -10.6300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.9942
    Cell Significance Index: -10.7000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 3.3653
    Cell Significance Index: 55.4600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7927
    Cell Significance Index: -11.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.3583
    Cell Significance Index: 233.2900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.2856
    Cell Significance Index: -7.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.7408
    Cell Significance Index: -3.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.5449
    Cell Significance Index: 106.8400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0481
    Cell Significance Index: 946.3800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8727
    Cell Significance Index: 52.3900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8561
    Cell Significance Index: 93.1200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8441
    Cell Significance Index: 99.5500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7088
    Cell Significance Index: 115.2900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5489
    Cell Significance Index: 35.4200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.5217
    Cell Significance Index: 8.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4050
    Cell Significance Index: 11.6700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3394
    Cell Significance Index: 4.6300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3325
    Cell Significance Index: 9.0500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3255
    Cell Significance Index: 37.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3217
    Cell Significance Index: 16.7100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3150
    Cell Significance Index: 8.4400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.3041
    Cell Significance Index: 8.9300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2793
    Cell Significance Index: 6.0500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2499
    Cell Significance Index: 13.1200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1603
    Cell Significance Index: 5.5700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1492
    Cell Significance Index: 3.9900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1279
    Cell Significance Index: 16.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1174
    Cell Significance Index: 64.1100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1072
    Cell Significance Index: 4.8600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1006
    Cell Significance Index: 19.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0964
    Cell Significance Index: 17.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0930
    Cell Significance Index: 33.3600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0854
    Cell Significance Index: 3.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0841
    Cell Significance Index: 2.3500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0830
    Cell Significance Index: 16.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0801
    Cell Significance Index: 1.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0759
    Cell Significance Index: 9.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0682
    Cell Significance Index: 13.6800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0681
    Cell Significance Index: 1.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0677
    Cell Significance Index: 29.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0669
    Cell Significance Index: 3.1200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0664
    Cell Significance Index: 8.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0636
    Cell Significance Index: 8.7400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0567
    Cell Significance Index: 2.6600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0546
    Cell Significance Index: 0.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0520
    Cell Significance Index: 35.9900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.0519
    Cell Significance Index: 1.5300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0501
    Cell Significance Index: 1.0400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0358
    Cell Significance Index: 2.6700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0145
    Cell Significance Index: 0.3800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0016
    Cell Significance Index: 0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0000
    Cell Significance Index: -0.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0020
    Cell Significance Index: -1.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0059
    Cell Significance Index: -10.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0065
    Cell Significance Index: -9.9300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0083
    Cell Significance Index: -6.1100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0090
    Cell Significance Index: -0.9200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0095
    Cell Significance Index: -12.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0100
    Cell Significance Index: -6.3600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0150
    Cell Significance Index: -11.1300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0187
    Cell Significance Index: -8.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0190
    Cell Significance Index: -10.7300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0218
    Cell Significance Index: -13.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0242
    Cell Significance Index: -1.7100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0261
    Cell Significance Index: -7.5000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0349
    Cell Significance Index: -5.0700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0432
    Cell Significance Index: -7.3700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0604
    Cell Significance Index: -12.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0620
    Cell Significance Index: -7.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0660
    Cell Significance Index: -1.6500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0685
    Cell Significance Index: -1.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0756
    Cell Significance Index: -2.4200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0849
    Cell Significance Index: -5.3500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0858
    Cell Significance Index: -2.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0908
    Cell Significance Index: -6.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1014
    Cell Significance Index: -6.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1019
    Cell Significance Index: -10.6100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1161
    Cell Significance Index: -2.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1314
    Cell Significance Index: -10.4100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1338
    Cell Significance Index: -7.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1387
    Cell Significance Index: -9.3300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1639
    Cell Significance Index: -2.4700
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.1673
    Cell Significance Index: -1.0400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1697
    Cell Significance Index: -6.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1871
    Cell Significance Index: -11.4700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1874
    Cell Significance Index: -4.3300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1898
    Cell Significance Index: -9.5900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2003
    Cell Significance Index: -2.8100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2105
    Cell Significance Index: -3.7200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2273
    Cell Significance Index: -6.0700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2307
    Cell Significance Index: -2.9600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2351
    Cell Significance Index: -8.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2376
    Cell Significance Index: -10.5100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.2381
    Cell Significance Index: -2.5300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2396
    Cell Significance Index: -2.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2466
    Cell Significance Index: -6.3400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2485
    Cell Significance Index: -8.7100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2727
    Cell Significance Index: -3.9100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcriptional Regulation**: RFX5 acts as a transcriptional activator, binding to specific DNA sequences and enhancing the expression of target genes. 2. **RNA Polymerase II Specificity**: RFX5 is RNA polymerase II-specific, indicating its role in regulating gene expression through the transcriptional machinery. 3. **Cell-Type Specificity**: RFX5 is expressed in a variety of cell types, including immune cells, neurons, and epithelial cells, suggesting its involvement in diverse cellular processes. 4. **Chromatin Modulation**: RFX5 is associated with chromatin, a complex of DNA, histone proteins, and other non-histone proteins that regulate gene expression. **Pathways and Functions:** 1. **Immune Regulation**: RFX5 plays a crucial role in regulating immune responses, particularly in the development and function of immune cells, such as B cells and T cells. 2. **Cellular Differentiation**: RFX5 is involved in the differentiation of immune cells, such as germinal center B cells, and neurons, like GABAergic interneurons. 3. **Transcriptional Regulation**: RFX5 modulates the expression of genes involved in immune responses, including those involved in antigen presentation and cytokine production. 4. **Developmental Processes**: RFX5 is essential for embryonic development, particularly in the formation of the nervous system and immune system. **Clinical Significance:** 1. **Autoimmune Diseases**: Dysregulation of RFX5 has been implicated in autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis, highlighting its potential as a therapeutic target. 2. **Cancer**: Alterations in RFX5 expression have been observed in certain types of cancer, suggesting its role in tumorigenesis and cancer progression. 3. **Immune-Mediated Disorders**: RFX5's involvement in immune regulation underscores its potential as a therapeutic target for immune-mediated disorders, such as autoimmune hemolytic anemia. 4. **Neurological Disorders**: RFX5's role in neuronal development and function makes it a potential therapeutic target for neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, the Regulatory Factor X5 (RFX5) gene is a crucial component of the immune system, playing a pivotal role in regulating gene expression and cellular functions. Its involvement in immune regulation, cellular differentiation, and development underscores its significance in maintaining tissue homeostasis and immune function. Further research is necessary to fully elucidate the mechanisms by which RFX5 regulates gene expression and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 72365885

Symbol: RFX5_HUMAN

Name: DNA-binding protein RFX5

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7744245

Title: A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).

PubMed ID: 7744245

DOI: 10.1101/gad.9.9.1021

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10072068

Title: RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.

PubMed ID: 10072068

DOI: 10.1016/s1074-7613(00)80016-3

PubMed ID: 9401005

Title: Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.

PubMed ID: 9401005

DOI: 10.1002/(sici)1098-1004(1997)10:6<430::aid-humu3>3.0.co;2-h

PubMed ID: 10779326

Title: A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y.

PubMed ID: 10779326

DOI: 10.1128/mcb.20.10.3364-3376.2000

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 20732328

Title: Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.

PubMed ID: 20732328

DOI: 10.1016/j.jmb.2010.08.025

PubMed ID: 22649097

Title: Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.

PubMed ID: 22649097

DOI: 10.1126/scisignal.2002979

PubMed ID: 10825209

Title: Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.

PubMed ID: 10825209

DOI: 10.1128/mcb.20.12.4455-4461.2000

PubMed ID: 30170160

Title: MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.

PubMed ID: 30170160

DOI: 10.1016/j.jaip.2018.07.046

PubMed ID: 37584719

Title: Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.

PubMed ID: 37584719

DOI: 10.1007/s10875-023-01562-z

Sequence Information:

  • Length: 616
  • Mass: 65323
  • Checksum: 5EBB33C677BB717F
  • Sequence:
  • MAEDEPDAKS PKTGGRAPPG GAEAGEPTTL LQRLRGTISK AVQNKVEGIL QDVQKFSDND 
    KLYLYLQLPS GPTTGDKSSE PSTLSNEEYM YAYRWIRNHL EEHTDTCLPK QSVYDAYRKY 
    CESLACCRPL STANFGKIIR EIFPDIKARR LGGRGQSKYC YSGIRRKTLV SMPPLPGLDL 
    KGSESPEMGP EVTPAPRDEL VEAACALTCD WAERILKRSF SSIVEVARFL LQQHLISARS 
    AHAHVLKAMG LAEEDEHAPR ERSSKPKNGL ENPEGGAHKK PERLAQPPKD LEARTGAGPL 
    ARGERKKSVV ESSAPGANNL QVNALVARLP LLLPRAPRSL IPPIPVSPPI LAPRLSSGAL 
    KVATLPLSSR AGAPPAAVPI INMILPTVPA LPGPGPGPGR APPGGLTQPR GTENREVGIG 
    GDQGPHDKGV KRTAEVPVSE ASGQAPPAKA AKQDIEDTAS DAKRKRGRPR KKSGGSGERN 
    STPLKSAAAM ESAQSSRLPW ETWGSGGEGN SAGGAERPGP MGEAEKGAVL AQGQGDGTVS 
    KGGRGPGSQH TKEAEDKIPL VPSKVSVIKG SRSQKEAFPL AKGEVDTAPQ GNKDLKEHVL 
    QSSLSQEHKD PKATPP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.