UniProtKB - P48382 (RFX5_HUMAN)
DNA-binding protein RFX5
RFX5
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 92 – 168 | RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST | 77 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity Source: GO_Central
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P48382 |
SIGNORi | P48382 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA-binding protein RFX5Alternative name(s): Regulatory factor X 5 |
Gene namesi | Name:RFX5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000143390.17 |
HGNCi | HGNC:9986, RFX5 |
MIMi | 601863, gene |
neXtProti | NX_P48382 |
Subcellular locationi
Nucleus
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: GO_Central
Other locations
- transcription regulator complex Source: ARUK-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Bare lymphocyte syndrome 2 (BLS2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015550 | 149 | R → Q in BLS2. 1 PublicationCorresponds to variant dbSNP:rs137853099EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, SCIDOrganism-specific databases
DisGeNETi | 5993 |
MalaCardsi | RFX5 |
MIMi | 209920, phenotype |
OpenTargetsi | ENSG00000143390 |
Orphaneti | 572, Immunodeficiency by defective expression of MHC class II |
PharmGKBi | PA34356 |
Miscellaneous databases
Pharosi | P48382, Tbio |
Polymorphism and mutation databases
BioMutai | RFX5 |
DMDMi | 1350587 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000215292 | 2 – 616 | DNA-binding protein RFX5Add BLAST | 615 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 10 | PhosphoserineCombined sources | 1 | |
Modified residuei | 185 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P48382 |
jPOSTi | P48382 |
MassIVEi | P48382 |
MaxQBi | P48382 |
PaxDbi | P48382 |
PeptideAtlasi | P48382 |
PRIDEi | P48382 |
ProteomicsDBi | 55886 [P48382-1] 6925 |
PTM databases
iPTMneti | P48382 |
MetOSitei | P48382 |
PhosphoSitePlusi | P48382 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000143390, Expressed in female gonad and 238 other tissues |
ExpressionAtlasi | P48382, baseline and differential |
Genevisiblei | P48382, HS |
Organism-specific databases
HPAi | ENSG00000143390, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer. The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group.
Interacts (via PxLPxI/L motif) with RFXANK (via ankyrin repeats); the interaction is direct. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex.
2 PublicationsBinary interactionsi
P48382
With | #Exp. | IntAct |
---|---|---|
HDAC2 [Q92769] | 4 | EBI-923266,EBI-301821 |
Protein-protein interaction databases
BioGRIDi | 111925, 30 interactors |
CORUMi | P48382 |
ELMi | P48382 |
IntActi | P48382, 14 interactors |
MINTi | P48382 |
STRINGi | 9606.ENSP00000290524 |
Miscellaneous databases
RNActi | P48382, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P48382 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P48382 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 25 – 90 | N-terminal domainAdd BLAST | 66 | |
Regioni | 62 – 66 | Leucine-rich region; critical for dimer formation and for interaction with RFXAP | 5 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 173 – 178 | PxLPxI/L motif; mediates interaction with RFXANK1 Publication | 6 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198574 |
InParanoidi | P48382 |
OMAi | NPEGGAH |
OrthoDBi | 67697at2759 |
PhylomeDBi | P48382 |
TreeFami | TF321340 |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
IDEALi | IID00452 |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR033486, RFX5 IPR029298, RFX5_C IPR040889, RFX5_N IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit PTHR12619:SF18, PTHR12619:SF18, 1 hit |
Pfami | View protein in Pfam PF14621, RFX5_DNA_bdg, 1 hit PF18326, RFX5_N, 1 hit PF02257, RFX_DNA_binding, 1 hit |
SMARTi | View protein in SMART SM01306, RFX5_DNA_bdg, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEDEPDAKS PKTGGRAPPG GAEAGEPTTL LQRLRGTISK AVQNKVEGIL
60 70 80 90 100
QDVQKFSDND KLYLYLQLPS GPTTGDKSSE PSTLSNEEYM YAYRWIRNHL
110 120 130 140 150
EEHTDTCLPK QSVYDAYRKY CESLACCRPL STANFGKIIR EIFPDIKARR
160 170 180 190 200
LGGRGQSKYC YSGIRRKTLV SMPPLPGLDL KGSESPEMGP EVTPAPRDEL
210 220 230 240 250
VEAACALTCD WAERILKRSF SSIVEVARFL LQQHLISARS AHAHVLKAMG
260 270 280 290 300
LAEEDEHAPR ERSSKPKNGL ENPEGGAHKK PERLAQPPKD LEARTGAGPL
310 320 330 340 350
ARGERKKSVV ESSAPGANNL QVNALVARLP LLLPRAPRSL IPPIPVSPPI
360 370 380 390 400
LAPRLSSGAL KVATLPLSSR AGAPPAAVPI INMILPTVPA LPGPGPGPGR
410 420 430 440 450
APPGGLTQPR GTENREVGIG GDQGPHDKGV KRTAEVPVSE ASGQAPPAKA
460 470 480 490 500
AKQDIEDTAS DAKRKRGRPR KKSGGSGERN STPLKSAAAM ESAQSSRLPW
510 520 530 540 550
ETWGSGGEGN SAGGAERPGP MGEAEKGAVL AQGQGDGTVS KGGRGPGSQH
560 570 580 590 600
TKEAEDKIPL VPSKVSVIKG SRSQKEAFPL AKGEVDTAPQ GNKDLKEHVL
610
QSSLSQEHKD PKATPP
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W689 | F8W689_HUMAN | DNA-binding protein RFX5 | RFX5 | 596 | Annotation score: | ||
H0Y4B4 | H0Y4B4_HUMAN | DNA-binding protein RFX5 | RFX5 | 235 | Annotation score: | ||
F6R6G4 | F6R6G4_HUMAN | DNA-binding protein RFX5 | RFX5 | 165 | Annotation score: | ||
F6UE82 | F6UE82_HUMAN | DNA-binding protein RFX5 | RFX5 | 184 | Annotation score: | ||
F6X9D6 | F6X9D6_HUMAN | DNA-binding protein RFX5 | RFX5 | 123 | Annotation score: | ||
A0A0A0MSQ2 | A0A0A0MSQ2_HUMAN | DNA-binding protein RFX5 | RFX5 | 229 | Annotation score: | ||
F6S3S0 | F6S3S0_HUMAN | DNA-binding protein RFX5 | RFX5 | 96 | Annotation score: | ||
F8WDU3 | F8WDU3_HUMAN | DNA-binding protein RFX5 | RFX5 | 42 | Annotation score: | ||
A0A0A0MSM9 | A0A0A0MSM9_HUMAN | DNA-binding protein RFX5 | RFX5 | 117 | Annotation score: | ||
A0A0A0MT34 | A0A0A0MT34_HUMAN | DNA-binding protein RFX5 | RFX5 | 105 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015550 | 149 | R → Q in BLS2. 1 PublicationCorresponds to variant dbSNP:rs137853099EnsemblClinVar. | 1 | |
Natural variantiVAR_034448 | 197 | R → Q. Corresponds to variant dbSNP:rs2233851EnsemblClinVar. | 1 | |
Natural variantiVAR_034449 | 409 | P → R. Corresponds to variant dbSNP:rs2233854EnsemblClinVar. | 1 | |
Natural variantiVAR_034450 | 499 | P → S. Corresponds to variant dbSNP:rs2233855EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055864 | 78 – 117 | Missing in isoform 2. 1 PublicationAdd BLAST | 40 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X85786 mRNA Translation: CAA59771.1 AK302891 mRNA Translation: BAH13834.1 AL391069 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW53446.1 CH471121 Genomic DNA Translation: EAW53447.1 CH471121 Genomic DNA Translation: EAW53448.1 BC017471 mRNA Translation: AAH17471.1 |
CCDSi | CCDS994.1 [P48382-1] |
PIRi | I38155 |
RefSeqi | NP_000440.1, NM_000449.3 [P48382-1] NP_001020774.1, NM_001025603.1 [P48382-1] XP_005245462.1, XM_005245405.1 XP_005245463.1, XM_005245406.3 XP_011508149.1, XM_011509847.1 XP_011508150.1, XM_011509848.1 XP_011508151.1, XM_011509849.1 XP_011508152.1, XM_011509850.1 |
Genome annotation databases
Ensembli | ENST00000290524; ENSP00000290524; ENSG00000143390 [P48382-1] ENST00000368870; ENSP00000357864; ENSG00000143390 [P48382-1] ENST00000452671; ENSP00000389130; ENSG00000143390 [P48382-1] |
GeneIDi | 5993 |
KEGGi | hsa:5993 |
UCSCi | uc001exv.2, human [P48382-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
RFX5base RFX5 mutation db |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X85786 mRNA Translation: CAA59771.1 AK302891 mRNA Translation: BAH13834.1 AL391069 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW53446.1 CH471121 Genomic DNA Translation: EAW53447.1 CH471121 Genomic DNA Translation: EAW53448.1 BC017471 mRNA Translation: AAH17471.1 |
CCDSi | CCDS994.1 [P48382-1] |
PIRi | I38155 |
RefSeqi | NP_000440.1, NM_000449.3 [P48382-1] NP_001020774.1, NM_001025603.1 [P48382-1] XP_005245462.1, XM_005245405.1 XP_005245463.1, XM_005245406.3 XP_011508149.1, XM_011509847.1 XP_011508150.1, XM_011509848.1 XP_011508151.1, XM_011509849.1 XP_011508152.1, XM_011509850.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2KW3 | NMR | - | A/B | 24-90 | [»] | |
3V30 | X-ray | 1.57 | B | 167-183 | [»] | |
SMRi | P48382 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111925, 30 interactors |
CORUMi | P48382 |
ELMi | P48382 |
IntActi | P48382, 14 interactors |
MINTi | P48382 |
STRINGi | 9606.ENSP00000290524 |
PTM databases
iPTMneti | P48382 |
MetOSitei | P48382 |
PhosphoSitePlusi | P48382 |
Polymorphism and mutation databases
BioMutai | RFX5 |
DMDMi | 1350587 |
Proteomic databases
EPDi | P48382 |
jPOSTi | P48382 |
MassIVEi | P48382 |
MaxQBi | P48382 |
PaxDbi | P48382 |
PeptideAtlasi | P48382 |
PRIDEi | P48382 |
ProteomicsDBi | 55886 [P48382-1] 6925 |
Protocols and materials databases
Antibodypediai | 683, 286 antibodies |
DNASUi | 5993 |
Genome annotation databases
Ensembli | ENST00000290524; ENSP00000290524; ENSG00000143390 [P48382-1] ENST00000368870; ENSP00000357864; ENSG00000143390 [P48382-1] ENST00000452671; ENSP00000389130; ENSG00000143390 [P48382-1] |
GeneIDi | 5993 |
KEGGi | hsa:5993 |
UCSCi | uc001exv.2, human [P48382-1] |
Organism-specific databases
CTDi | 5993 |
DisGeNETi | 5993 |
EuPathDBi | HostDB:ENSG00000143390.17 |
GeneCardsi | RFX5 |
HGNCi | HGNC:9986, RFX5 |
HPAi | ENSG00000143390, Low tissue specificity |
MalaCardsi | RFX5 |
MIMi | 209920, phenotype 601863, gene |
neXtProti | NX_P48382 |
OpenTargetsi | ENSG00000143390 |
Orphaneti | 572, Immunodeficiency by defective expression of MHC class II |
PharmGKBi | PA34356 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198574 |
InParanoidi | P48382 |
OMAi | NPEGGAH |
OrthoDBi | 67697at2759 |
PhylomeDBi | P48382 |
TreeFami | TF321340 |
Enzyme and pathway databases
PathwayCommonsi | P48382 |
SIGNORi | P48382 |
Miscellaneous databases
BioGRID-ORCSi | 5993, 32 hits in 865 CRISPR screens |
ChiTaRSi | RFX5, human |
EvolutionaryTracei | P48382 |
GeneWikii | RFX5 |
GenomeRNAii | 5993 |
Pharosi | P48382, Tbio |
PROi | PR:P48382 |
RNActi | P48382, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143390, Expressed in female gonad and 238 other tissues |
ExpressionAtlasi | P48382, baseline and differential |
Genevisiblei | P48382, HS |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
IDEALi | IID00452 |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR033486, RFX5 IPR029298, RFX5_C IPR040889, RFX5_N IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit PTHR12619:SF18, PTHR12619:SF18, 1 hit |
Pfami | View protein in Pfam PF14621, RFX5_DNA_bdg, 1 hit PF18326, RFX5_N, 1 hit PF02257, RFX_DNA_binding, 1 hit |
SMARTi | View protein in SMART SM01306, RFX5_DNA_bdg, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RFX5_HUMAN | |
Accessioni | P48382Primary (citable) accession number: P48382 Secondary accession number(s): B7Z848 Q5VWC3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | February 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 178 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations