InnateDB Protein
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IDBP-45444.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RFX3
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Protein Name
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regulatory factor X, 3 (influences HLA class II expression)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000303847
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InnateDB Gene
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IDBG-45438 (RFX3)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0003705
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RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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GO:0044212
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transcription regulatory region DNA binding
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Biological Process |
GO:0006355
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regulation of transcription, DNA-templated
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GO:0006366
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transcription from RNA polymerase II promoter
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GO:0031018
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endocrine pancreas development
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GO:0042384
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cilium assembly
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GO:0045892
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negative regulation of transcription, DNA-templated
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048469
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cell maturation
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GO:0050796
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regulation of insulin secretion
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GO:0060285
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cilium-dependent cell motility
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GO:0060287
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epithelial cilium movement involved in determination of left/right asymmetry
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GO:2000078
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positive regulation of type B pancreatic cell development
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Cellular Component |
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PDB ID |
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InterPro |
IPR003150
DNA-binding RFX-type winged-helix domain
IPR007668
RFX1 transcription activation region
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PFAM |
PF02257
PF04589
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P48380
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PhosphoSite |
PhosphoSite-P48380
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TrEMBL |
F6XM74
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UniProt Splice Variant |
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Entrez Gene |
5991
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UniGene |
Hs.734648
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RefSeq |
NP_001269046
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HUGO |
HGNC:9984
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OMIM |
601337
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CCDS |
CCDS75809
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HPRD |
03215
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IMGT |
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EMBL |
AK289540
AL133549
AL354941
AL365202
AL603631
BC022191
BC067778
CH471071
X76092
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GenPept |
AAH22191
AAH67778
BAF82229
CAA53706
CAI13403
CAI13404
CAI40199
CAI40200
CAI41215
CAI41216
EAW58795
EAW58796
EAW58798
EAW58799
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