Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P48380 (RFX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor RFX3
Alternative name(s):
Regulatory factor X 3
Gene names
Name:RFX3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length749 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Acts as a transcription factor. Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells. Ref.6 Ref.7

Subcellular location

Nucleus Probable.

Sequence similarities

Belongs to the RFX family.

Contains 1 RFX-type winged-helix DNA-binding domain.

Ontologies

Keywords
   Biological processDifferentiation
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   LigandDNA-binding
   Molecular functionDevelopmental protein
Repressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell maturation

Inferred from sequence or structural similarity PubMed 20413507. Source: BHF-UCL

ciliary cell motility

Inferred from sequence or structural similarity. Source: UniProtKB

cilium assembly

Inferred from sequence or structural similarity PubMed 20413507. Source: BHF-UCL

endocrine pancreas development

Inferred from sequence or structural similarity. Source: UniProtKB

epithelial cilium movement involved in determination of left/right asymmetry

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.6. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity PubMed 20413507. Source: BHF-UCL

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.7. Source: UniProtKB

positive regulation of type B pancreatic cell development

Inferred from sequence or structural similarity PubMed 20413507. Source: BHF-UCL

regulation of insulin secretion

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

transcription from RNA polymerase II promoter

Traceable author statement Ref.1. Source: GOC

type B pancreatic cell maturation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnuclear chromatin

Inferred from direct assay PubMed 20413507. Source: BHF-UCL

nucleus

Inferred by curator Ref.6. Source: UniProtKB

transcription factor complex

Inferred by curator PubMed 20413507. Source: BHF-UCL

   Molecular_functionDNA binding

Traceable author statement PubMed 8600444. Source: ProtInc

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

sequence-specific DNA binding transcription factor activity

Non-traceable author statement PubMed 8600444. Source: ProtInc

transcription regulatory region DNA binding

Inferred from direct assay Ref.7. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P48380-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: P48380-2)

The sequence of this isoform differs from the canonical sequence as follows:
     657-707: FGDLNAVSPG...ELSQAFPVGC → VREAERAVTH...RDCGVIARVP
     708-749: Missing.
Isoform 3 (identifier: P48380-3)

The sequence of this isoform differs from the canonical sequence as follows:
     401-413: SNLSEIESRLPKA → RSESTSFPIHFHG
     414-749: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 749749Transcription factor RFX3
PRO_0000215290

Regions

DNA binding183 – 25876RFX-type winged-helix Ref.7

Natural variations

Alternative sequence401 – 41313SNLSE…RLPKA → RSESTSFPIHFHG in isoform 3.
VSP_015162
Alternative sequence414 – 749336Missing in isoform 3.
VSP_015163
Alternative sequence657 – 70751FGDLN…FPVGC → VREAERAVTHWVIKNKPELH FSLNTLLIKTMVPNQVSLRA RRDCGVIARVP in isoform 2.
VSP_007626
Alternative sequence708 – 74942Missing in isoform 2.
VSP_007627

Experimental info

Sequence conflict1501H → P in BAF82229. Ref.2
Sequence conflict3101E → G in AAH67778. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 20, 2003. Version 2.
Checksum: 531F5CFCA7A707C7

FASTA74983,530
        10         20         30         40         50         60 
MQTSETGSDT GSTVTLQTSV ASQAAVPTQV VQQVPVQQQV QQVQTVQQVQ HVYPAQVQYV 

        70         80         90        100        110        120 
EGSDTVYTNG AIRTTTYPYT ETQMYSQNTG GNYFDTQGSS AQVTTVVSSH SMVGTGGIQM 

       130        140        150        160        170        180 
GVTGGQLISS SGGTYLIGNS MENSGHSVTH TTRASPATIE MAIETLQKSD GLSTHRSSLL 

       190        200        210        220        230        240 
NSHLQWLLDN YETAEGVSLP RSTLYNHYLR HCQEHKLDPV NAASFGKLIR SIFMGLRTRR 

       250        260        270        280        290        300 
LGTRGNSKYH YYGIRVKPDS PLNRLQEDMQ YMAMRQQPMQ QKQRYKPMQK VDGVADGFTG 

       310        320        330        340        350        360 
SGQQTGTSVE QTVIAQSQHH QQFLDASRAL PEFGEVEISS LPDGTTFEDI KSLQSLYREH 

       370        380        390        400        410        420 
CEAILDVVVN LQFSLIEKLW QTFWRYSPST PTDGTTITES SNLSEIESRL PKAKLITLCK 

       430        440        450        460        470        480 
HESILKWMCN CDHGMYQALV EILIPDVLRP IPSALTQAIR NFAKSLEGWL SNAMNNIPQR 

       490        500        510        520        530        540 
MIQTKVAAVS AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW 

       550        560        570        580        590        600 
VCQCDDNMVQ RLETDFKMTL QQQSTLEQWA AWLDNVMMQA LKPYEGRPSF PKAARQFLLK 

       610        620        630        640        650        660 
WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAQATGETP IAVMGEFGDL 

       670        680        690        700        710        720 
NAVSPGNLDK DEGSEVESEM DEELDDSSEP QAKREKTELS QAFPVGCMQP VLETGVQPSL 

       730        740 
LNPIHSEHIV TSTQTIRQCS ATGNTYTAV 

« Hide

Isoform 2 [UniParc].

Checksum: A1959E3F23E0D8F0
Show »

FASTA70779,357
Isoform 3 [UniParc].

Checksum: 8C355CDF0E4837D7
Show »

FASTA41345,715

References

« Hide 'large scale' references
[1]"RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins."
Reith W., Ucla C., Barras E., Gaud A., Durand B., Herrero-Sanchez C., Kobr M., Mach B.
Mol. Cell. Biol. 14:1230-1244(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Cerebellum.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Muscle and Testis.
[6]"Role for RFX transcription factors in non-neuronal cell-specific inactivation of the microtubule-associated protein MAP1A promoter."
Nakayama A., Murakami H., Maeyama N., Yamashiro N., Sakakibara A., Mori N., Takahashi M.
J. Biol. Chem. 278:233-240(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[7]"Rfx6 directs islet formation and insulin production in mice and humans."
Smith S.B., Qu H.Q., Taleb N., Kishimoto N.Y., Scheel D.W., Lu Y., Patch A.M., Grabs R., Wang J., Lynn F.C., Miyatsuka T., Mitchell J., Seerke R., Desir J., Eijnden S.V., Abramowicz M., Kacet N., Weill J. expand/collapse author list , Renard M.E., Gentile M., Hansen I., Dewar K., Hattersley A.T., Wang R., Wilson M.E., Johnson J.D., Polychronakos C., German M.S.
Nature 463:775-780(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DNA-BINDING, INTERACTION WITH RFX6.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X76092 mRNA. Translation: CAA53706.1.
AK289540 mRNA. Translation: BAF82229.1.
AL365202, AL133549, AL354941 Genomic DNA. Translation: CAI13403.1.
AL365202, AL133549, AL354941 Genomic DNA. Translation: CAI13404.1.
AL133549, AL354941, AL365202 Genomic DNA. Translation: CAI40199.1.
AL133549, AL354941, AL365202 Genomic DNA. Translation: CAI40200.1.
AL354941, AL133549, AL365202 Genomic DNA. Translation: CAI41215.1.
AL354941, AL133549, AL365202 Genomic DNA. Translation: CAI41216.1.
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.
PIRD55926.
RefSeqNP_001269045.1. NM_001282116.1.
NP_001269046.1. NM_001282117.1.
NP_002910.1. NM_002919.3.
NP_602304.1. NM_134428.2.
UniGeneHs.136829.
Hs.438858.
Hs.734648.

3D structure databases

ProteinModelPortalP48380.
SMRP48380. Positions 184-257.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111923. 9 interactions.
IntActP48380. 3 interactions.
STRING9606.ENSP00000371434.

PTM databases

PhosphoSiteP48380.

Polymorphism databases

DMDM32172437.

Proteomic databases

PaxDbP48380.
PRIDEP48380.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302303; ENSP00000303847; ENSG00000080298. [P48380-2]
ENST00000358730; ENSP00000351574; ENSG00000080298. [P48380-2]
ENST00000382004; ENSP00000371434; ENSG00000080298. [P48380-1]
GeneID5991.
KEGGhsa:5991.
UCSCuc003zhr.3. human. [P48380-1]
uc003zhs.1. human. [P48380-2]
uc003zht.1. human. [P48380-3]

Organism-specific databases

CTD5991.
GeneCardsGC09M003214.
HGNCHGNC:9984. RFX3.
HPAHPA035689.
MIM601337. gene.
neXtProtNX_P48380.
PharmGKBPA34354.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264634.
HOVERGENHBG002753.
InParanoidP48380.
KOK09173.
OMAYSEPQLY.
OrthoDBEOG7TF793.
PhylomeDBP48380.
TreeFamTF321340.

Gene expression databases

ArrayExpressP48380.
BgeeP48380.
CleanExHS_RFX3.
GenevestigatorP48380.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
PROSITEPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRFX3.
GenomeRNAi5991.
NextBio23335.
PROP48380.
SOURCESearch...

Entry information

Entry nameRFX3_HUMAN
AccessionPrimary (citable) accession number: P48380
Secondary accession number(s): A8K0H5 expand/collapse secondary AC list , D3DRH8, D3DRH9, Q5JTL7, Q5JTL8, Q6NW13, Q8WTU4, Q95HL5, Q95HL6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: June 20, 2003
Last modified: April 16, 2014
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM