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Protein

Transcription factor RFX3

Gene

Rfx3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 (PubMed:15121860, PubMed:19671664). Also required for ciliated ependymal cell differentiation (PubMed:16930429). 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 (PubMed:17229940). Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (By similarity). Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells.By similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi183 – 258RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor RFX3
Alternative name(s):
Regulatory factor X 3
Gene namesi
Name:Rfx3
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:106582 Rfx3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

High rate of embryonic lethality. 2 peaks of death are observed: approximately half of the embryos die around days 11 or 12 of embryonic development. Of the embryos that survive past this stage, approximately two-thirds die at birth. Surviving mice are systematically smaller. Their body weights at birth are approximately one-third lower. This growth retardation increases with age, and the body weights that adult male or female mice attain are less than half those of wild-type mice. Mice exhibit a pronounced defect in nodal cilia: cilia are present but remain markedly stunted. Mice also suffer from hydrocephalus without stenosis of the aqueduct of Sylvius. In pancreatic endocrine cells, primary cilia are reduced in number and severely stunted: this ciliary abnormality is associated with a developmental defect leading to an altered cellular composition of the islets of Langerhans. Just before birth, islets contain considerably less insulin-, glucagon-, and ghrelin-producing cells, whereas pancreatic PP (polypeptide-producing) cells are markedly increased in number. In adult mice, the defect leads to small and disorganized islets, reduced insulin production, and impaired glucose tolerance.3 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002152911 – 749Transcription factor RFX3Add BLAST749

Proteomic databases

EPDiP48381
MaxQBiP48381
PaxDbiP48381
PeptideAtlasiP48381
PRIDEiP48381

PTM databases

iPTMnetiP48381
PhosphoSitePlusiP48381
SwissPalmiP48381

Expressioni

Tissue specificityi

Expressed in ciliated cells of the node and in the ciliated ependymal cells of the subcommissural organ (SCO), choroid plexuses (CP) and ventricular walls during embryonic and postnatal development. Expressed in developing and mature pancreatic endocrine cells during embryogenesis and in adults (at protein level).3 Publications

Gene expression databases

BgeeiENSMUSG00000040929 Expressed in 243 organ(s), highest expression level in visual cortex
ExpressionAtlasiP48381 baseline and differential
GenevisibleiP48381 MM

Interactioni

Subunit structurei

Heterodimer; heterodimerizes with RFX1 and RFX2, and RFX6.By similarity1 Publication

Protein-protein interaction databases

BioGridi202874, 1 interactor
IntActiP48381, 1 interactor
STRINGi10090.ENSMUSP00000126313

Structurei

3D structure databases

ProteinModelPortaliP48381
SMRiP48381
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000294091
HOVERGENiHBG002753
InParanoidiP48381
KOiK09173
OrthoDBiEOG091G0EID
PhylomeDBiP48381
TreeFamiTF321340

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView 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
PANTHERiPTHR12619 PTHR12619, 1 hit
PfamiView protein in Pfam
PF04589 RFX1_trans_act, 1 hit
PF02257 RFX_DNA_binding, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526 RFX_DBD, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48381-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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 PADGTTITES
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 RVAQVTGETP
660 670 680 690 700
IAVMGEFGDL NAVSPGNLDK DEGSEVESET DEDLDDSSEP RAKREKTELS
710 720 730 740
QAFPVGCMQP VLESAVQPSL LNPLHSEHIV TSTQTIRQCS ATGNTYTAV
Length:749
Mass (Da):83,512
Last modified:June 20, 2003 - v2
Checksum:i5527A5F3826D32AA
GO
Isoform 2 (identifier: P48381-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-183: Missing.
     401-413: SNLSEIESRLPKA → RSESIGLSDLFSR
     414-749: Missing.

Note: No experimental confirmation available.
Show »
Length:388
Mass (Da):42,900
Checksum:iCDA2971DA0E4DE79
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E890G5E890_MOUSE
Transcription factor RFX3
Rfx3
724Annotation score:
G3UWP0G3UWP0_MOUSE
Transcription factor RFX3
Rfx3
458Annotation score:
G3UZZ6G3UZZ6_MOUSE
Transcription factor RFX3
Rfx3
71Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti372Q → K in BAC26730 (PubMed:16141072).Curated1
Sequence conflicti459I → V in BAC26730 (PubMed:16141072).Curated1
Sequence conflicti494Q → H in BAC26730 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007628159 – 183Missing in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_007629401 – 413SNLSE…RLPKA → RSESIGLSDLFSR in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_007630414 – 749Missing in isoform 2. 1 PublicationAdd BLAST336

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK030008 mRNA Translation: BAC26730.1
AK041120 mRNA Translation: BAC30829.1
BC017598 mRNA Translation: AAH17598.1
X76090 mRNA Translation: CAA53704.1
CCDSiCCDS29725.1 [P48381-1]
PIRiE55926
RefSeqiNP_001159886.1, NM_001166414.1 [P48381-1]
NP_035395.2, NM_011265.3 [P48381-1]
XP_006526845.1, XM_006526782.3
XP_011245471.1, XM_011247169.2 [P48381-1]
UniGeneiMm.313321

Genome annotation databases

EnsembliENSMUST00000165566; ENSMUSP00000126313; ENSMUSG00000040929 [P48381-1]
ENSMUST00000172907; ENSMUSP00000134141; ENSMUSG00000040929 [P48381-1]
ENSMUST00000174850; ENSMUSP00000133461; ENSMUSG00000040929 [P48381-1]
GeneIDi19726
KEGGimmu:19726
UCSCiuc008hcb.2 mouse [P48381-1]
uc008hcd.3 mouse [P48381-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK030008 mRNA Translation: BAC26730.1
AK041120 mRNA Translation: BAC30829.1
BC017598 mRNA Translation: AAH17598.1
X76090 mRNA Translation: CAA53704.1
CCDSiCCDS29725.1 [P48381-1]
PIRiE55926
RefSeqiNP_001159886.1, NM_001166414.1 [P48381-1]
NP_035395.2, NM_011265.3 [P48381-1]
XP_006526845.1, XM_006526782.3
XP_011245471.1, XM_011247169.2 [P48381-1]
UniGeneiMm.313321

3D structure databases

ProteinModelPortaliP48381
SMRiP48381
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202874, 1 interactor
IntActiP48381, 1 interactor
STRINGi10090.ENSMUSP00000126313

PTM databases

iPTMnetiP48381
PhosphoSitePlusiP48381
SwissPalmiP48381

Proteomic databases

EPDiP48381
MaxQBiP48381
PaxDbiP48381
PeptideAtlasiP48381
PRIDEiP48381

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000165566; ENSMUSP00000126313; ENSMUSG00000040929 [P48381-1]
ENSMUST00000172907; ENSMUSP00000134141; ENSMUSG00000040929 [P48381-1]
ENSMUST00000174850; ENSMUSP00000133461; ENSMUSG00000040929 [P48381-1]
GeneIDi19726
KEGGimmu:19726
UCSCiuc008hcb.2 mouse [P48381-1]
uc008hcd.3 mouse [P48381-2]

Organism-specific databases

CTDi5991
MGIiMGI:106582 Rfx3

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000294091
HOVERGENiHBG002753
InParanoidiP48381
KOiK09173
OrthoDBiEOG091G0EID
PhylomeDBiP48381
TreeFamiTF321340

Miscellaneous databases

PROiPR:P48381
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000040929 Expressed in 243 organ(s), highest expression level in visual cortex
ExpressionAtlasiP48381 baseline and differential
GenevisibleiP48381 MM

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView 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
PANTHERiPTHR12619 PTHR12619, 1 hit
PfamiView protein in Pfam
PF04589 RFX1_trans_act, 1 hit
PF02257 RFX_DNA_binding, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526 RFX_DBD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRFX3_MOUSE
AccessioniPrimary (citable) accession number: P48381
Secondary accession number(s): Q8BLW2, Q8C0R3, Q8VBY6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: June 20, 2003
Last modified: November 7, 2018
This is version 143 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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