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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:RFX5

Protein Summary

check button Gene summary
Gene name: RFX5
ASpdb.0 ID: 5993
Gene
Gene symbol

RFX5

Gene ID

5993

Gene nameregulatory factor X5
Synonyms-
Cytomap

1q21.3

Type of geneprotein-coding
DescriptionDNA-binding protein RFX5regulatory factor X 5regulatory factor X, 5 (influences HLA class II expression)
Modification date20240403
UniProtAcc

P48382


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneRFX5

GO:0000977

RNA polymerase II transcription regulatory region sequence-specific DNA binding

9806546

GeneRFX5

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

10586057

GeneRFX5

GO:0005634

nucleus

10938133

GeneRFX5

GO:0005654

nucleoplasm

-

GeneRFX5

GO:0043231

intracellular membrane-bounded organelle

-

GeneRFX5

GO:0043565

sequence-specific DNA binding

23332764

GeneRFX5

GO:0045944

positive regulation of transcription by RNA polymerase II

9806546|10586057|10938133

GeneRFX5

GO:1990837

sequence-specific double-stranded DNA binding

28473536



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
P48382-1P48382-1_3v30_B.pdb3V30X-ray1.57B168183

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
P48382RFX5P48382-1P48382-261657678117Deletionnonenone7777

check buttonMultiple sequence alignment of our canonical and alternatively spliced RFX5

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of RFX5
UniProt-idENSGENSTENSP
P48382-1ENSG00000143390.18ENST00000290524.8ENSP00000290524.4
P48382-1ENSG00000143390.18ENST00000368870.6ENSP00000357864.2
P48382-1ENSG00000143390.18ENST00000452671.7ENSP00000389130.2

UniProt-idNM IDNP ID
P48382-1NM_000449.3NP_000440.1
P48382-1NM_001025603.1NP_001020774.1

check buttonAmino acid sequences of our canonical and alternatively spliced RFX5
accession_idProtein sequence
P48382-1MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYM
YAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDL
KGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGL
ENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGAL
KVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKA
AKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVS
P48382-2MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKRKYCESLACCRPL
STANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSF
SSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVV
ESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGR
APPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAM
ESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPL

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
RFX5 (go to UniProt):P48382

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
P48382DNA binding92168Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858Type=Deletion;Start=78;End=117
P48382Region2590Note=N-terminal domainType=Deletion;Start=78;End=117


Gene Isoform Structures and Expression Levels for RFX5

check buttonGene structures of our canonical and alternative spliced genes of RFX5
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of RFX5

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of P48382-1
3D view using mol* of P48382-2


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of P48382-1
all structure
pLDDT distribution across the protein length of P48382-2
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of P48382-1
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
P48382-10.738360.70986.4360.4930.6750.9840.9720.7971.2192.282225,228,229,231,232,234,246,247,250,251
P48382-20.9961621.036483.2870.5290.6520.9090.6020.9050.6650.86192,95,99,100,108,109,111,118,119,120,121,122,123,1
24,125,126,128,338,339,340,341,342,343,344,345,346


Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of P48382-1_P48382-1_3v30_B.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P48382-1_3v30_B_P48382-2.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P48382-1_P48382-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/P48382-1_vs_P48382-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/P48382-1_vs_P48382-2.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to RFX5


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions

Related Diseases to RFX5


check button Previous studies relating to the alternative splicing of RFX5 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in RFX5


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance