UniProtKB - P48380 (RFX3_HUMAN)
Transcription factor RFX3
RFX3
Functioni
Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity).
Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032).
Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).
By similarity2 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 183 – 258 | RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST | 76 |
GO - Molecular functioni
- DNA binding Source: ProtInc
- DNA-binding transcription factor activity Source: ARUK-UCL
- 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 double-stranded DNA binding Source: ARUK-UCL
- transcription cis-regulatory region binding Source: UniProtKB
GO - Biological processi
- cell maturation Source: BHF-UCL
- cilium assembly Source: BHF-UCL
- cilium-dependent cell motility Source: UniProtKB
- endocrine pancreas development Source: UniProtKB
- epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- positive regulation of type B pancreatic cell development Source: BHF-UCL
- regulation of insulin secretion Source: UniProtKB
- regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- transcription, DNA-templated Source: Ensembl
- type B pancreatic cell maturation Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P48380 |
SignaLinki | P48380 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor RFX3Alternative name(s): Regulatory factor X 3 |
Gene namesi | Name:RFX3 |
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
HGNCi | HGNC:9984, RFX3 |
MIMi | 601337, gene |
neXtProti | NX_P48380 |
VEuPathDBi | HostDB:ENSG00000080298 |
Subcellular locationi
Nucleus
- Nucleus Curated
Extracellular region or secreted
- extracellular region Source: GOC
Nucleus
- nucleus Source: ProtInc
Other locations
- chromatin Source: BHF-UCL
- transcription regulator complex Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 5991 |
OpenTargetsi | ENSG00000080298 |
PharmGKBi | PA34354 |
Miscellaneous databases
Pharosi | P48380, Tbio |
Genetic variation databases
BioMutai | RFX3 |
DMDMi | 32172437 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215290 | 1 – 749 | Transcription factor RFX3Add BLAST | 749 |
Proteomic databases
EPDi | P48380 |
jPOSTi | P48380 |
MassIVEi | P48380 |
MaxQBi | P48380 |
PaxDbi | P48380 |
PeptideAtlasi | P48380 |
PRIDEi | P48380 |
ProteomicsDBi | 55883 [P48380-1] 55884 [P48380-2] 55885 [P48380-3] |
PTM databases
iPTMneti | P48380 |
PhosphoSitePlusi | P48380 |
SwissPalmi | P48380 |
Expressioni
Gene expression databases
Bgeei | ENSG00000080298, Expressed in oviduct epithelium and 208 other tissues |
ExpressionAtlasi | P48380, baseline and differential |
Genevisiblei | P48380, HS |
Organism-specific databases
HPAi | ENSG00000080298, Tissue enhanced (brain, choroid plexus) |
Interactioni
Subunit structurei
Heterodimer; heterodimerizes with RFX1 and RFX2, and RFX6.
2 PublicationsBinary interactionsi
P48380
With | #Exp. | IntAct |
---|---|---|
FHL2 [Q14192] | 10 | EBI-742557,EBI-701903 |
FHL3 [Q13643] | 4 | EBI-742557,EBI-741101 |
MEOX2 [Q6FHY5] | 3 | EBI-742557,EBI-16439278 |
TRAF2 [Q12933] | 5 | EBI-742557,EBI-355744 |
TRIP6 [Q15654] | 3 | EBI-742557,EBI-742327 |
Protein-protein interaction databases
BioGRIDi | 111923, 42 interactors |
IntActi | P48380, 21 interactors |
MINTi | P48380 |
STRINGi | 9606.ENSP00000371434 |
Miscellaneous databases
RNActi | P48380, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 663 – 699 | DisorderedSequence analysisAdd BLAST | 37 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198514 |
HOGENOMi | CLU_010393_1_1_1 |
InParanoidi | P48380 |
OMAi | VGCLQPV |
OrthoDBi | 346630at2759 |
PhylomeDBi | P48380 |
TreeFami | TF321340 |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR007668, RFX1_trans_act IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit |
Pfami | View protein in Pfam PF04589, RFX1_trans_act, 1 hit PF02257, RFX_DNA_binding, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 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
MQTSETGSDT GSTVTLQTSV ASQAAVPTQV VQQVPVQQQV QQVQTVQQVQ
60 70 80 90 100
HVYPAQVQYV EGSDTVYTNG AIRTTTYPYT ETQMYSQNTG GNYFDTQGSS
110 120 130 140 150
AQVTTVVSSH SMVGTGGIQM GVTGGQLISS SGGTYLIGNS MENSGHSVTH
160 170 180 190 200
TTRASPATIE MAIETLQKSD GLSTHRSSLL NSHLQWLLDN YETAEGVSLP
210 220 230 240 250
RSTLYNHYLR HCQEHKLDPV NAASFGKLIR SIFMGLRTRR LGTRGNSKYH
260 270 280 290 300
YYGIRVKPDS PLNRLQEDMQ YMAMRQQPMQ QKQRYKPMQK VDGVADGFTG
310 320 330 340 350
SGQQTGTSVE QTVIAQSQHH QQFLDASRAL PEFGEVEISS LPDGTTFEDI
360 370 380 390 400
KSLQSLYREH CEAILDVVVN LQFSLIEKLW QTFWRYSPST PTDGTTITES
410 420 430 440 450
SNLSEIESRL PKAKLITLCK HESILKWMCN CDHGMYQALV EILIPDVLRP
460 470 480 490 500
IPSALTQAIR NFAKSLEGWL SNAMNNIPQR MIQTKVAAVS AFAQTLRRYT
510 520 530 540 550
SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW VCQCDDNMVQ
560 570 580 590 600
RLETDFKMTL QQQSTLEQWA AWLDNVMMQA LKPYEGRPSF PKAARQFLLK
610 620 630 640 650
WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAQATGETP
660 670 680 690 700
IAVMGEFGDL NAVSPGNLDK DEGSEVESEM DEELDDSSEP QAKREKTELS
710 720 730 740
QAFPVGCMQP VLETGVQPSL LNPIHSEHIV TSTQTIRQCS ATGNTYTAV
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6UGA0 | F6UGA0_HUMAN | Transcription factor RFX3 | RFX3 | 216 | Annotation score: | ||
F6UV76 | F6UV76_HUMAN | Transcription factor RFX3 | RFX3 | 184 | Annotation score: | ||
A9Z1Z2 | A9Z1Z2_HUMAN | Transcription factor RFX3 | RFX3 | 85 | Annotation score: | ||
F6XM74 | F6XM74_HUMAN | Transcription factor RFX3 | RFX3 | 138 | Annotation score: | ||
H0Y790 | H0Y790_HUMAN | Transcription factor RFX3 | RFX3 | 135 | Annotation score: | ||
H0Y7Z4 | H0Y7Z4_HUMAN | Transcription factor RFX3 | RFX3 | 156 | Annotation score: | ||
F6USP3 | F6USP3_HUMAN | Transcription factor RFX3 | RFX3 | 174 | Annotation score: | ||
H0Y7W5 | H0Y7W5_HUMAN | Transcription factor RFX3 | RFX3 | 124 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 150 | H → P in BAF82229 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 310 | E → G in AAH67778 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015162 | 401 – 413 | SNLSE…RLPKA → RSESTSFPIHFHG in isoform 3. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_015163 | 414 – 749 | Missing in isoform 3. 1 PublicationAdd BLAST | 336 | |
Alternative sequenceiVSP_007626 | 657 – 707 | FGDLN…FPVGC → VREAERAVTHWVIKNKPELH FSLNTLLIKTMVPNQVSLRA RRDCGVIARVP in isoform 2. 1 PublicationAdd BLAST | 51 | |
Alternative sequenceiVSP_007627 | 708 – 749 | Missing in isoform 2. 1 PublicationAdd BLAST | 42 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X76092 mRNA Translation: CAA53706.1 AK289540 mRNA Translation: BAF82229.1 AL365202 Genomic DNA No translation available. AL133549 Genomic DNA No translation available. AL354941 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58795.1 CH471071 Genomic DNA Translation: EAW58796.1 CH471071 Genomic DNA Translation: EAW58798.1 CH471071 Genomic DNA Translation: EAW58799.1 BC022191 mRNA Translation: AAH22191.1 BC067778 mRNA Translation: AAH67778.1 |
CCDSi | CCDS6449.1 [P48380-1] CCDS6450.1 [P48380-2] CCDS75809.1 [P48380-3] |
PIRi | D55926 |
RefSeqi | NP_001269045.1, NM_001282116.1 [P48380-1] NP_001269046.1, NM_001282117.1 [P48380-3] NP_002910.1, NM_002919.3 [P48380-2] NP_602304.1, NM_134428.2 [P48380-1] |
Genome annotation databases
Ensembli | ENST00000302303; ENSP00000303847; ENSG00000080298 [P48380-3] ENST00000358730; ENSP00000351574; ENSG00000080298 [P48380-2] ENST00000382004; ENSP00000371434; ENSG00000080298 ENST00000617270; ENSP00000482598; ENSG00000080298 |
GeneIDi | 5991 |
KEGGi | hsa:5991 |
MANE-Selecti | ENST00000617270.5; ENSP00000482598.1; NM_001282116.2; NP_001269045.1 |
UCSCi | uc003zhr.5, human [P48380-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X76092 mRNA Translation: CAA53706.1 AK289540 mRNA Translation: BAF82229.1 AL365202 Genomic DNA No translation available. AL133549 Genomic DNA No translation available. AL354941 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58795.1 CH471071 Genomic DNA Translation: EAW58796.1 CH471071 Genomic DNA Translation: EAW58798.1 CH471071 Genomic DNA Translation: EAW58799.1 BC022191 mRNA Translation: AAH22191.1 BC067778 mRNA Translation: AAH67778.1 |
CCDSi | CCDS6449.1 [P48380-1] CCDS6450.1 [P48380-2] CCDS75809.1 [P48380-3] |
PIRi | D55926 |
RefSeqi | NP_001269045.1, NM_001282116.1 [P48380-1] NP_001269046.1, NM_001282117.1 [P48380-3] NP_002910.1, NM_002919.3 [P48380-2] NP_602304.1, NM_134428.2 [P48380-1] |
3D structure databases
SMRi | P48380 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111923, 42 interactors |
IntActi | P48380, 21 interactors |
MINTi | P48380 |
STRINGi | 9606.ENSP00000371434 |
PTM databases
iPTMneti | P48380 |
PhosphoSitePlusi | P48380 |
SwissPalmi | P48380 |
Genetic variation databases
BioMutai | RFX3 |
DMDMi | 32172437 |
Proteomic databases
EPDi | P48380 |
jPOSTi | P48380 |
MassIVEi | P48380 |
MaxQBi | P48380 |
PaxDbi | P48380 |
PeptideAtlasi | P48380 |
PRIDEi | P48380 |
ProteomicsDBi | 55883 [P48380-1] 55884 [P48380-2] 55885 [P48380-3] |
Protocols and materials databases
Antibodypediai | 23939, 248 antibodies from 31 providers |
DNASUi | 5991 |
Genome annotation databases
Ensembli | ENST00000302303; ENSP00000303847; ENSG00000080298 [P48380-3] ENST00000358730; ENSP00000351574; ENSG00000080298 [P48380-2] ENST00000382004; ENSP00000371434; ENSG00000080298 ENST00000617270; ENSP00000482598; ENSG00000080298 |
GeneIDi | 5991 |
KEGGi | hsa:5991 |
MANE-Selecti | ENST00000617270.5; ENSP00000482598.1; NM_001282116.2; NP_001269045.1 |
UCSCi | uc003zhr.5, human [P48380-1] |
Organism-specific databases
CTDi | 5991 |
DisGeNETi | 5991 |
GeneCardsi | RFX3 |
HGNCi | HGNC:9984, RFX3 |
HPAi | ENSG00000080298, Tissue enhanced (brain, choroid plexus) |
MIMi | 601337, gene |
neXtProti | NX_P48380 |
OpenTargetsi | ENSG00000080298 |
PharmGKBi | PA34354 |
VEuPathDBi | HostDB:ENSG00000080298 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198514 |
HOGENOMi | CLU_010393_1_1_1 |
InParanoidi | P48380 |
OMAi | VGCLQPV |
OrthoDBi | 346630at2759 |
PhylomeDBi | P48380 |
TreeFami | TF321340 |
Enzyme and pathway databases
PathwayCommonsi | P48380 |
SignaLinki | P48380 |
Miscellaneous databases
BioGRID-ORCSi | 5991, 12 hits in 1069 CRISPR screens |
ChiTaRSi | RFX3, human |
GeneWikii | RFX3 |
GenomeRNAii | 5991 |
Pharosi | P48380, Tbio |
PROi | PR:P48380 |
RNActi | P48380, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000080298, Expressed in oviduct epithelium and 208 other tissues |
ExpressionAtlasi | P48380, baseline and differential |
Genevisiblei | P48380, HS |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR007668, RFX1_trans_act IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit |
Pfami | View protein in Pfam PF04589, RFX1_trans_act, 1 hit PF02257, RFX_DNA_binding, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RFX3_HUMAN | |
Accessioni | P48380Primary (citable) accession number: P48380 Secondary accession number(s): A8K0H5 Q95HL6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | June 20, 2003 | |
Last modified: | February 23, 2022 | |
This is version 180 of the entry and version 2 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families