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UniProtKB - P48380 (RFX3_HUMAN)

Protein

Transcription factor RFX3

Gene

RFX3

Organism
Homo sapiens (Human)
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. 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 Publications

Regions

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000080298.15
HGNCiHGNC:9984 RFX3
MIMi601337 gene
neXtProtiNX_P48380

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

Organism-specific databases

DisGeNETi5991
OpenTargetsiENSG00000080298
PharmGKBiPA34354

Polymorphism and mutation databases

DMDMi32172437

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002152901 – 749Transcription factor RFX3Add BLAST749

Proteomic databases

EPDiP48380
MaxQBiP48380
PaxDbiP48380
PeptideAtlasiP48380
PRIDEiP48380
ProteomicsDBi55883
55884 [P48380-2]
55885 [P48380-3]

PTM databases

iPTMnetiP48380
PhosphoSitePlusiP48380

Expressioni

Gene expression databases

BgeeiENSG00000080298 Expressed in 192 organ(s), highest expression level in oviduct epithelium
CleanExiHS_RFX3
ExpressionAtlasiP48380 baseline and differential
GenevisibleiP48380 HS

Organism-specific databases

HPAiHPA035689

Interactioni

Subunit structurei

Heterodimer; heterodimerizes with RFX1 and RFX2, and RFX6.2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi111923, 36 interactors
IntActiP48380, 11 interactors
MINTiP48380
STRINGi9606.ENSP00000371434

Structurei

3D structure databases

ProteinModelPortaliP48380
SMRiP48380
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOVERGENiHBG002753
InParanoidiP48380
KOiK09173
OMAiAFQVGCM
OrthoDBiEOG091G0EID
PhylomeDBiP48380
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 (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48380-1) [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 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
Note: No experimental confirmation available.
Length:749
Mass (Da):83,530
Last modified:June 20, 2003 - v2
Checksum:i531F5CFCA7A707C7
GO
Isoform 2 (identifier: P48380-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     657-707: FGDLNAVSPG...ELSQAFPVGC → VREAERAVTH...RDCGVIARVP
     708-749: Missing.

Show »
Length:707
Mass (Da):79,357
Checksum:iA1959E3F23E0D8F0
GO
Isoform 3 (identifier: P48380-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:413
Mass (Da):45,715
Checksum:i8C355CDF0E4837D7
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6UGA0F6UGA0_HUMAN
Transcription factor RFX3
RFX3
216Annotation score:
F6UV76F6UV76_HUMAN
Transcription factor RFX3
RFX3
184Annotation score:
A9Z1Z2A9Z1Z2_HUMAN
Transcription factor RFX3
RFX3
85Annotation score:
F6XM74F6XM74_HUMAN
Transcription factor RFX3
RFX3
138Annotation score:
H0Y7Z4H0Y7Z4_HUMAN
Transcription factor RFX3
RFX3
156Annotation score:
H0Y790H0Y790_HUMAN
Transcription factor RFX3
RFX3
135Annotation score:
F6USP3F6USP3_HUMAN
Transcription factor RFX3
RFX3
174Annotation score:
H0Y7W5H0Y7W5_HUMAN
Transcription factor RFX3
RFX3
124Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti150H → P in BAF82229 (PubMed:14702039).Curated1
Sequence conflicti310E → G in AAH67778 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015162401 – 413SNLSE…RLPKA → RSESTSFPIHFHG in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_015163414 – 749Missing in isoform 3. 1 PublicationAdd BLAST336
Alternative sequenceiVSP_007626657 – 707FGDLN…FPVGC → VREAERAVTHWVIKNKPELH FSLNTLLIKTMVPNQVSLRA RRDCGVIARVP in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_007627708 – 749Missing in isoform 2. 1 PublicationAdd BLAST42

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
CCDSiCCDS6449.1 [P48380-1]
CCDS6450.1 [P48380-2]
CCDS75809.1 [P48380-3]
PIRiD55926
RefSeqiNP_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]
UniGeneiHs.136829
Hs.438858
Hs.734648

Genome annotation databases

EnsembliENST00000302303; ENSP00000303847; ENSG00000080298 [P48380-3]
ENST00000358730; ENSP00000351574; ENSG00000080298 [P48380-2]
ENST00000382004; ENSP00000371434; ENSG00000080298 [P48380-1]
ENST00000617270; ENSP00000482598; ENSG00000080298 [P48380-1]
GeneIDi5991
KEGGihsa:5991
UCSCiuc003zhr.5 human [P48380-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS6449.1 [P48380-1]
CCDS6450.1 [P48380-2]
CCDS75809.1 [P48380-3]
PIRiD55926
RefSeqiNP_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]
UniGeneiHs.136829
Hs.438858
Hs.734648

3D structure databases

ProteinModelPortaliP48380
SMRiP48380
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111923, 36 interactors
IntActiP48380, 11 interactors
MINTiP48380
STRINGi9606.ENSP00000371434

PTM databases

iPTMnetiP48380
PhosphoSitePlusiP48380

Polymorphism and mutation databases

DMDMi32172437

Proteomic databases

EPDiP48380
MaxQBiP48380
PaxDbiP48380
PeptideAtlasiP48380
PRIDEiP48380
ProteomicsDBi55883
55884 [P48380-2]
55885 [P48380-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302303; ENSP00000303847; ENSG00000080298 [P48380-3]
ENST00000358730; ENSP00000351574; ENSG00000080298 [P48380-2]
ENST00000382004; ENSP00000371434; ENSG00000080298 [P48380-1]
ENST00000617270; ENSP00000482598; ENSG00000080298 [P48380-1]
GeneIDi5991
KEGGihsa:5991
UCSCiuc003zhr.5 human [P48380-1]

Organism-specific databases

CTDi5991
DisGeNETi5991
EuPathDBiHostDB:ENSG00000080298.15
GeneCardsiRFX3
HGNCiHGNC:9984 RFX3
HPAiHPA035689
MIMi601337 gene
neXtProtiNX_P48380
OpenTargetsiENSG00000080298
PharmGKBiPA34354
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOVERGENiHBG002753
InParanoidiP48380
KOiK09173
OMAiAFQVGCM
OrthoDBiEOG091G0EID
PhylomeDBiP48380
TreeFamiTF321340

Miscellaneous databases

ChiTaRSiRFX3 human
GeneWikiiRFX3
GenomeRNAii5991
PROiPR:P48380
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000080298 Expressed in 192 organ(s), highest expression level in oviduct epithelium
CleanExiHS_RFX3
ExpressionAtlasiP48380 baseline and differential
GenevisibleiP48380 HS

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_HUMAN
AccessioniPrimary (citable) accession number: P48380
Secondary accession number(s): A8K0H5
, D3DRH8, D3DRH9, Q5JTL7, Q5JTL8, Q6NW13, Q8WTU4, Q95HL5, Q95HL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: June 20, 2003
Last modified: November 7, 2018
This is version 159 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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