RFX3
Transcription factor RFX3
Also known as: RFX3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P48380
- Gene
- RFX3
- Ensembl
- ENSG00000080298
- Chromosome
- 9
- Canonical length
- 749 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles,Cytosol
OverviewNCBI Gene
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
Canonical amino-acid sequenceUniProt
749 residues, UniProt reviewed canonical sequence.
>P48380|RFX3
1 MQTSETGSDT GSTVTLQTSV ASQAAVPTQV VQQVPVQQQV QQVQTVQQVQ HVYPAQVQYV
61 EGSDTVYTNG AIRTTTYPYT ETQMYSQNTG GNYFDTQGSS AQVTTVVSSH SMVGTGGIQM
121 GVTGGQLISS SGGTYLIGNS MENSGHSVTH TTRASPATIE MAIETLQKSD GLSTHRSSLL
181 NSHLQWLLDN YETAEGVSLP RSTLYNHYLR HCQEHKLDPV NAASFGKLIR SIFMGLRTRR
241 LGTRGNSKYH YYGIRVKPDS PLNRLQEDMQ YMAMRQQPMQ QKQRYKPMQK VDGVADGFTG
301 SGQQTGTSVE QTVIAQSQHH QQFLDASRAL PEFGEVEISS LPDGTTFEDI KSLQSLYREH
361 CEAILDVVVN LQFSLIEKLW QTFWRYSPST PTDGTTITES SNLSEIESRL PKAKLITLCK
421 HESILKWMCN CDHGMYQALV EILIPDVLRP IPSALTQAIR NFAKSLEGWL SNAMNNIPQR
481 MIQTKVAAVS AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW
541 VCQCDDNMVQ RLETDFKMTL QQQSTLEQWA AWLDNVMMQA LKPYEGRPSF PKAARQFLLK
601 WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAQATGETP IAVMGEFGDL
661 NAVSPGNLDK DEGSEVESEM DEELDDSSEP QAKREKTELS QAFPVGCMQP VLETGVQPSL
721 LNPIHSEHIV TSTQTIRQCS ATGNTYTAVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RFX3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- testis: 20 nTPM
- fallopian tube: 11 nTPM
- retina: 8.3 nTPM
- choroid plexus: 6.1 nTPM
- bone marrow: 5.9 nTPM
- thymus: 5.9 nTPM
Single-cell type
- ependymal cells: 2,321 nCPM
- respiratory ciliated cells: 1,765 nCPM
- choroid plexus epithelial cells: 1,559 nCPM
- neuroendocrine cells: 853 nCPM
- endometrial ciliated cells: 852 nCPM
- fallopian tube ciliated cells: 795 nCPM
Immune cell
- T-reg: 7.2 nTPM
- neutrophil: 6.1 nTPM
- gdT-cell: 5.9 nTPM
- memory CD4 T-cell: 5.3 nTPM
- naive B-cell: 5.2 nTPM
- eosinophil: 4.7 nTPM
Brain region
- choroid plexus: 129 nTPM
- cerebral cortex: 106 nTPM
- hippocampal formation: 99 nTPM
- midbrain: 89 nTPM
- cerebellum: 87 nTPM
- spinal cord: 81 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RFX3.
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 153 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder
- RFX3-related disorder
- Inborn genetic diseases
- RFX3-associated neurodevelopmental disorder
- Developmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.1
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.47
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell maturation
- cilium assembly
- cilium-dependent cell motility
- DNA-templated transcription
- endocrine pancreas development
- epithelial cilium movement involved in determination of left/right asymmetry
- negative regulation of DNA-templated transcription
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- positive regulation of type B pancreatic cell development
- regulation of DNA-templated transcription
- regulation of insulin secretion
- regulation of transcription by RNA polymerase II
- type B pancreatic cell maturation
Molecular functions
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RFX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RFX3 as an antibody target. Whether an autoantibody or antibody against RFX3 could matter depends on whether native RFX3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RFX3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RFX3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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