Details for: RFXAP

Gene ID: 5994

Symbol: RFXAP

Ensembl ID: ENSG00000133111

Description: regulatory factor X associated protein

Associated with

  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Nuclear speck
    (GO:0016607)
  • 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 transcription regulator complex
    (GO:0090575)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)

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: 71.8119
    Cell Significance Index: -11.1700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.5217
    Cell Significance Index: -14.5900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 32.0117
    Cell Significance Index: -13.0100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 13.6319
    Cell Significance Index: -13.0200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.4498
    Cell Significance Index: -15.3500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.8192
    Cell Significance Index: -12.9100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.0496
    Cell Significance Index: -15.9800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.8329
    Cell Significance Index: -6.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0484
    Cell Significance Index: 210.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8518
    Cell Significance Index: 769.1500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6514
    Cell Significance Index: 70.8600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6164
    Cell Significance Index: 38.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5840
    Cell Significance Index: 94.9800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.5741
    Cell Significance Index: 9.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5069
    Cell Significance Index: 181.8200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4247
    Cell Significance Index: 9.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4196
    Cell Significance Index: 15.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3941
    Cell Significance Index: 17.4300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3807
    Cell Significance Index: 23.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3358
    Cell Significance Index: 66.6400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.3272
    Cell Significance Index: 8.3600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3150
    Cell Significance Index: 21.7900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.3002
    Cell Significance Index: 7.2000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2538
    Cell Significance Index: 8.8200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2452
    Cell Significance Index: 16.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2027
    Cell Significance Index: 5.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1770
    Cell Significance Index: 2.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1643
    Cell Significance Index: 12.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1549
    Cell Significance Index: 10.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1342
    Cell Significance Index: 25.5300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1251
    Cell Significance Index: 7.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1244
    Cell Significance Index: 6.5300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1235
    Cell Significance Index: 16.9600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1004
    Cell Significance Index: 54.8300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0967
    Cell Significance Index: 11.2700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0897
    Cell Significance Index: 1.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0886
    Cell Significance Index: 4.1300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0861
    Cell Significance Index: 38.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0766
    Cell Significance Index: 7.5800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0746
    Cell Significance Index: 0.9300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0686
    Cell Significance Index: 3.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0682
    Cell Significance Index: 47.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0529
    Cell Significance Index: 9.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0490
    Cell Significance Index: 0.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0462
    Cell Significance Index: 1.0000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0146
    Cell Significance Index: 1.8700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0076
    Cell Significance Index: 14.2900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0064
    Cell Significance Index: 0.1600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0047
    Cell Significance Index: 6.3600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0037
    Cell Significance Index: 2.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0016
    Cell Significance Index: 0.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0006
    Cell Significance Index: 0.9500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0002
    Cell Significance Index: 0.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0008
    Cell Significance Index: -0.0900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0057
    Cell Significance Index: -0.4000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0115
    Cell Significance Index: -8.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0117
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0126
    Cell Significance Index: -9.3400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0144
    Cell Significance Index: -10.8800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0171
    Cell Significance Index: -0.8900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0220
    Cell Significance Index: -12.4100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0224
    Cell Significance Index: -0.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0225
    Cell Significance Index: -2.7700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0255
    Cell Significance Index: -3.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0270
    Cell Significance Index: -16.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0347
    Cell Significance Index: -0.5800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0448
    Cell Significance Index: -12.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0475
    Cell Significance Index: -8.1100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0634
    Cell Significance Index: -6.4800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0672
    Cell Significance Index: -7.7000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0759
    Cell Significance Index: -1.6100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0774
    Cell Significance Index: -10.0000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0780
    Cell Significance Index: -16.4200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0969
    Cell Significance Index: -2.4900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1190
    Cell Significance Index: -3.1300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1219
    Cell Significance Index: -3.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1287
    Cell Significance Index: -6.0500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1306
    Cell Significance Index: -3.6500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1350
    Cell Significance Index: -14.0600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1524
    Cell Significance Index: -3.1900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1579
    Cell Significance Index: -11.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1660
    Cell Significance Index: -13.1500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1701
    Cell Significance Index: -3.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1824
    Cell Significance Index: -11.1800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1842
    Cell Significance Index: -9.6000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1851
    Cell Significance Index: -5.9300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1997
    Cell Significance Index: -4.0100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2003
    Cell Significance Index: -6.3800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2181
    Cell Significance Index: -7.1400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2261
    Cell Significance Index: -4.4700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2318
    Cell Significance Index: -2.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2495
    Cell Significance Index: -6.7900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2577
    Cell Significance Index: -3.8100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2889
    Cell Significance Index: -7.7400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2939
    Cell Significance Index: -3.7100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3009
    Cell Significance Index: -10.5400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3017
    Cell Significance Index: -8.0700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.3057
    Cell Significance Index: -3.9200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3096
    Cell Significance Index: -10.8800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3180
    Cell Significance Index: -9.3400

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. **DNA-binding transcription activator**: RFXAP belongs to the RFX family of transcription factors, which are known to regulate gene expression by binding to specific DNA sequences. 2. **RNA polymerase II-specific**: RFXAP is specifically involved in regulating the transcription of genes by RNA polymerase II, a crucial enzyme responsible for transcribing protein-coding genes. 3. **Nuclear speck localization**: RFXAP is localized to nuclear specks, which are small, dense structures within the nucleus that play a role in regulating gene expression and transcriptional regulation. 4. **Positive regulation of MHC class II biosynthetic process**: RFXAP is involved in the positive regulation of the MHC class II biosynthetic process, which is essential for the presentation of antigens to T-cells. **Pathways and Functions:** 1. **DNA-binding transcription activator activity**: RFXAP binds to specific DNA sequences, thereby activating the transcription of target genes. 2. **Positive regulation of transcription by RNA polymerase II**: RFXAP modulates the activity of RNA polymerase II, a key enzyme responsible for transcribing genes into RNA. 3. **Regulation of transcription by RNA polymerase II**: RFXAP regulates the transcription of genes by RNA polymerase II, which is essential for the expression of various genes involved in immune responses, neuronal development, and synaptic plasticity. 4. **RNA polymerase II transcription regulator complex**: RFXAP is part of the RNA polymerase II transcription regulator complex, which is responsible for regulating the transcription of genes by RNA polymerase II. **Clinical Significance:** 1. **Neurological disorders**: RFXAP's expression in neurons and its involvement in regulating transcriptional regulation may contribute to the development of neurological disorders, such as Alzheimer's disease, Parkinson's disease, and schizophrenia. 2. **Immune system dysregulation**: RFXAP's positive regulation of MHC class II biosynthetic process may contribute to immune system dysregulation, which is observed in various autoimmune diseases. 3. **Cancer**: RFXAP's role in regulating transcriptional regulation may also contribute to cancer development, as dysregulation of gene expression is a hallmark of cancer. In conclusion, RFXAP is a transcriptional regulator that plays a critical role in regulating gene expression in neurons and immune cells. Its involvement in regulating transcriptional regulation and its expression in various cell types make it a promising candidate for further investigation into its role in neurological disorders and cancer.

Genular Protein ID: 3259888530

Symbol: RFXAP_HUMAN

Name: Regulatory factor X-associated protein

UniProtKB Accession Codes:

O00287 B2R9T8 Q5VZM6 Q8TC40

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 EvolutionaryTrace 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9118943

Title: RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.

PubMed ID: 9118943

DOI: 10.1093/emboj/16.5.1045

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

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: 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: 272
  • Mass: 28232
  • Checksum: A6757F5F03D5F905
  • Sequence:
    • MEAQGVAEGA GPGAASGVPH PAALAPAAAP TLAPASVAAA ASQFTLLVMQ PCAGQDEAAA 
PGGSVGAGKP VRYLCEGAGD GEEEAGEDEA DLLDTSDPPG GGESAASLED LEDEETHSGG 
EGSSGGARRR GSGGGSMSKT CTYEGCSETT SQVAKQRKPW MCKKHRNKMY KDKYKKKKSD 
QALNCGGTAS TGSAGNVKLE ESADNILSIV KQRTGSFGDR PARPTLLEQV LNQKRLSLLR 
SPEVVQFLQK QQQLLNQQVL EQRQQQFPGT SM

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.