Homo sapiens Protein: RFX3
Summary
InnateDB Protein IDBP-45446.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFX3
Protein Name regulatory factor X, 3 (influences HLA class II expression)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000351574
InnateDB Gene IDBG-45438 (RFX3)
Protein Structure
UniProt Annotation
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. {ECO:0000250, ECO:0000269PubMed:12411430, ECO:0000269PubMed:20148032}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0031018 endocrine pancreas development
GO:0042384 cilium assembly
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048469 cell maturation
GO:0050796 regulation of insulin secretion
GO:0060285 cilium-dependent cell motility
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:2000078 positive regulation of type B pancreatic cell development
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005667 transcription factor complex
Protein Structure and Domains
PDB ID
InterPro IPR003150 DNA-binding RFX-type winged-helix domain
IPR007668 RFX1 transcription activation region
PFAM PF02257
PF04589
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P48380
PhosphoSite PhosphoSite-P48380
TrEMBL F6XM74
UniProt Splice Variant
Entrez Gene 5991
UniGene Hs.734648
RefSeq NP_002910
HUGO HGNC:9984
OMIM 601337
CCDS CCDS6450
HPRD 03215
IMGT
EMBL AK289540 AL133549 AL354941 AL365202 AL603631 BC022191 BC067778 CH471071 X76092
GenPept AAH22191 AAH67778 BAF82229 CAA53706 CAI13403 CAI13404 CAI40199 CAI40200 CAI41215 CAI41216 EAW58795 EAW58796 EAW58798 EAW58799