Details for: RFX3

Gene ID: 5991

Symbol: RFX3

Ensembl ID: ENSG00000080298

Description: regulatory factor X3

Associated with

  • Cell maturation
    (GO:0048469)
  • Chromatin
    (GO:0000785)
  • Cilium-dependent cell motility
    (GO:0060285)
  • Cilium assembly
    (GO:0060271)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-templated transcription
    (GO:0006351)
  • Dna binding
    (GO:0003677)
  • Endocrine pancreas development
    (GO:0031018)
  • Epithelial cilium movement involved in determination of left/right asymmetry
    (GO:0060287)
  • Extracellular region
    (GO:0005576)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Nucleus
    (GO:0005634)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Positive regulation of type b pancreatic cell development
    (GO:2000078)
  • Protein binding
    (GO:0005515)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of insulin secretion
    (GO:0050796)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Transcription regulator complex
    (GO:0005667)
  • Type b pancreatic cell maturation
    (GO:0072560)

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: 419.4279
    Cell Significance Index: -65.2400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 256.4427
    Cell Significance Index: -65.0500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 127.9978
    Cell Significance Index: -52.0000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 54.3392
    Cell Significance Index: -51.8800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 53.2055
    Cell Significance Index: -65.6000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 24.0401
    Cell Significance Index: -64.4000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 20.1180
    Cell Significance Index: -44.0300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.6698
    Cell Significance Index: -65.7800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 7.5123
    Cell Significance Index: 421.5500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 7.0461
    Cell Significance Index: 473.7800
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 3.5792
    Cell Significance Index: 50.0500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.1626
    Cell Significance Index: 194.3900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 3.0821
    Cell Significance Index: 73.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.9073
    Cell Significance Index: 583.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.7518
    Cell Significance Index: 121.7200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.6744
    Cell Significance Index: 959.2700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.4829
    Cell Significance Index: 94.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.0702
    Cell Significance Index: 410.8400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.8968
    Cell Significance Index: 54.1300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.6456
    Cell Significance Index: 42.3000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.5690
    Cell Significance Index: 1085.2100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2151
    Cell Significance Index: 197.6200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.9957
    Cell Significance Index: 12.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9146
    Cell Significance Index: 106.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.6069
    Cell Significance Index: 10.4000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5313
    Cell Significance Index: 57.7900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4280
    Cell Significance Index: 233.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3160
    Cell Significance Index: 595.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2675
    Cell Significance Index: 169.9000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2649
    Cell Significance Index: 3.8100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2410
    Cell Significance Index: 45.8600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2064
    Cell Significance Index: 15.8400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1990
    Cell Significance Index: 306.2800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1870
    Cell Significance Index: 344.9000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1539
    Cell Significance Index: 4.3000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1470
    Cell Significance Index: 14.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1194
    Cell Significance Index: 21.5300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.1135
    Cell Significance Index: 1.8700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1019
    Cell Significance Index: 46.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0941
    Cell Significance Index: 2.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0558
    Cell Significance Index: 1.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0531
    Cell Significance Index: 72.2700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0280
    Cell Significance Index: 1.9400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0277
    Cell Significance Index: 3.4000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0267
    Cell Significance Index: 0.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0245
    Cell Significance Index: 1.1100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.0221
    Cell Significance Index: 0.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0171
    Cell Significance Index: 0.6000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0362
    Cell Significance Index: -5.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0365
    Cell Significance Index: -0.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0411
    Cell Significance Index: -18.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0622
    Cell Significance Index: -46.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0665
    Cell Significance Index: -48.7500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0925
    Cell Significance Index: -70.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1165
    Cell Significance Index: -65.7200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1270
    Cell Significance Index: -79.3300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1782
    Cell Significance Index: -11.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1793
    Cell Significance Index: -24.6200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1996
    Cell Significance Index: -57.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3129
    Cell Significance Index: -36.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3405
    Cell Significance Index: -71.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3456
    Cell Significance Index: -59.0200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4187
    Cell Significance Index: -43.6000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.4272
    Cell Significance Index: -55.1900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.4285
    Cell Significance Index: -54.9300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.4386
    Cell Significance Index: -2.6500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.4854
    Cell Significance Index: -49.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5243
    Cell Significance Index: -11.4800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5406
    Cell Significance Index: -10.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5674
    Cell Significance Index: -65.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6107
    Cell Significance Index: -39.4000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7038
    Cell Significance Index: -33.0800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7122
    Cell Significance Index: -37.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7335
    Cell Significance Index: -58.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.7503
    Cell Significance Index: -55.9200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.7785
    Cell Significance Index: -11.1800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.7831
    Cell Significance Index: -13.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.8012
    Cell Significance Index: -25.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.8194
    Cell Significance Index: -38.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8365
    Cell Significance Index: -26.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.8677
    Cell Significance Index: -23.1700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8769
    Cell Significance Index: -10.9400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8806
    Cell Significance Index: -28.8300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8933
    Cell Significance Index: -18.9600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.8942
    Cell Significance Index: -63.2400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.8975
    Cell Significance Index: -47.1200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.9407
    Cell Significance Index: -9.4900
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.9449
    Cell Significance Index: -6.8700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9475
    Cell Significance Index: -49.2200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.9641
    Cell Significance Index: -20.0000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -1.0510
    Cell Significance Index: -21.1000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0593
    Cell Significance Index: -64.9500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.1100
    Cell Significance Index: -14.0100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.1246
    Cell Significance Index: -23.9500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -1.1308
    Cell Significance Index: -12.3200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -1.1674
    Cell Significance Index: -17.7600
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -1.2146
    Cell Significance Index: -12.5800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.2203
    Cell Significance Index: -42.4100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -1.2210
    Cell Significance Index: -17.4900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.2521
    Cell Significance Index: -43.8700

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:** RFX3 is a member of the RFX family of transcription factors, characterized by its ability to regulate DNA-templated transcription and interact with RNA polymerase II. The gene is significantly expressed in a wide range of cell types, including neuronal brush cells, photoreceptor cells, astrocytes, and CNS interneurons. Notably, RFX3 exhibits tissue-specific expression patterns, underscoring its involvement in diverse cellular processes. **Pathways and Functions:** RFX3 is implicated in various signaling pathways, including cell maturation, cilium-dependent cell motility, and epithelial cilium movement involved in determination of left/right asymmetry. The gene's transcriptional regulatory activities are mediated through its interaction with RNA polymerase II and other transcriptional regulators. RFX3's role in regulating insulin secretion and type B pancreatic cell development highlights its significance in endocrine pancreas development. Furthermore, its involvement in the regulation of DNA-templated transcription and sequence-specific double-stranded DNA binding underscores its importance in transcriptional control. **Key Functions:** 1. **Regulation of cell maturation:** RFX3 plays a crucial role in regulating the maturation of neurons, photoreceptor cells, and other cell types, influencing their functional properties. 2. **Transcriptional regulation:** RFX3 interacts with RNA polymerase II to regulate DNA-templated transcription, influencing gene expression in various cell types. 3. **Cilium-dependent cell motility:** RFX3 is involved in regulating cilium-dependent cell motility, which is essential for determining left/right asymmetry in the body. 4. **Endocrine pancreas development:** RFX3's role in regulating insulin secretion and type B pancreatic cell development highlights its significance in endocrine pancreas development. **Clinical Significance:** RFX3's dysregulation has been implicated in various diseases, including: 1. **Neurological disorders:** Alterations in RFX3 expression have been linked to neurological disorders, such as autism spectrum disorder and schizophrenia. 2. **Pancreatic diseases:** RFX3's role in regulating insulin secretion and pancreatic cell development makes it a potential target for the treatment of pancreatic diseases, such as type 1 diabetes. 3. **Ciliary dyskinesia:** RFX3's involvement in cilium-dependent cell motility highlights its potential role in ciliary dyskinesia, a disorder characterized by impaired ciliary function. In conclusion, RFX3 is a multifaceted transcription factor that plays a critical role in regulating various cellular processes, including cell maturation, transcription, and development. Its dysregulation has significant implications for human disease, underscoring the need for further research into the molecular mechanisms underlying RFX3's functions.

Genular Protein ID: 3214289378

Symbol: RFX3_HUMAN

Name: Transcription factor RFX3

UniProtKB Accession Codes:

P48380 A8K0H5 D3DRH8 D3DRH9 Q5JTL7 Q5JTL8 Q6NW13 Q8WTU4 Q95HL5 Q95HL6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 4 ExpressionAtlas 1 GO 24 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8289803

Title: RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins.

PubMed ID: 8289803

DOI: 10.1128/mcb.14.2.1230-1244.1994

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 10330134

Title: Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin-5 receptor alpha promoter through activation and repression domains.

PubMed ID: 10330134

DOI: 10.1128/mcb.19.6.3940

PubMed ID: 12411430

Title: Role for RFX transcription factors in non-neuronal cell-specific inactivation of the microtubule-associated protein MAP1A promoter.

PubMed ID: 12411430

DOI: 10.1074/jbc.m209574200

PubMed ID: 20148032

Title: Rfx6 directs islet formation and insulin production in mice and humans.

PubMed ID: 20148032

DOI: 10.1038/nature08748

Sequence Information:

  • Length: 749
  • Mass: 83530
  • Checksum: 531F5CFCA7A707C7
  • Sequence:
    • MQTSETGSDT GSTVTLQTSV ASQAAVPTQV VQQVPVQQQV QQVQTVQQVQ HVYPAQVQYV 
EGSDTVYTNG AIRTTTYPYT ETQMYSQNTG GNYFDTQGSS AQVTTVVSSH SMVGTGGIQM 
GVTGGQLISS SGGTYLIGNS MENSGHSVTH TTRASPATIE MAIETLQKSD GLSTHRSSLL 
NSHLQWLLDN YETAEGVSLP RSTLYNHYLR HCQEHKLDPV NAASFGKLIR SIFMGLRTRR 
LGTRGNSKYH YYGIRVKPDS PLNRLQEDMQ YMAMRQQPMQ QKQRYKPMQK VDGVADGFTG 
SGQQTGTSVE QTVIAQSQHH QQFLDASRAL PEFGEVEISS LPDGTTFEDI KSLQSLYREH 
CEAILDVVVN LQFSLIEKLW QTFWRYSPST PTDGTTITES SNLSEIESRL PKAKLITLCK 
HESILKWMCN CDHGMYQALV EILIPDVLRP IPSALTQAIR NFAKSLEGWL SNAMNNIPQR 
MIQTKVAAVS AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW 
VCQCDDNMVQ RLETDFKMTL QQQSTLEQWA AWLDNVMMQA LKPYEGRPSF PKAARQFLLK 
WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAQATGETP IAVMGEFGDL 
NAVSPGNLDK DEGSEVESEM DEELDDSSEP QAKREKTELS QAFPVGCMQP VLETGVQPSL 
LNPIHSEHIV TSTQTIRQCS ATGNTYTAV

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.