RFX4

Protein identityUniProt · HPA

UniProt accession

Q33E94

Gene

RFX4

Ensembl

ENSG00000111783

Chromosome

12

Canonical length

735 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

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, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

735 residues, UniProt reviewed canonical sequence.

>Q33E94|RFX4
     1  MHCGLLEEPD MDSTESWIER CLNESENKRY SSHTSLGNVS NDENEEKENN RASKPHSTPA
    61  TLQWLEENYE IAEGVCIPRS ALYMHYLDFC EKNDTQPVNA ASFGKIIRQQ FPQLTTRRLG
   121  TRGQSKYHYY GIAVKESSQY YDVMYSKKGA AWVSETGKKE VSKQTVAYSP RSKLGTLLPE
   181  FPNVKDLNLP ASLPEEKVST FIMMYRTHCQ RILDTVIRAN FDEVQSFLLH FWQGMPPHML
   241  PVLGSSTVVN IVGVCDSILY KAISGVLMPT VLQALPDSLT QVIRKFAKQL DEWLKVALHD
   301  LPENLRNIKF ELSRRFSQIL RRQTSLNHLC QASRTVIHSA DITFQMLEDW RNVDLNSITK
   361  QTLYTMEDSR DEHRKLITQL YQEFDHLLEE QSPIESYIEW LDTMVDRCVV KVAAKRQGSL
   421  KKVAQQFLLM WSCFGTRVIR DMTLHSAPSF GSFHLIHLMF DDYVLYLLES LHCQERANEL
   481  MRAMKGEGST AEVREEIILT EAAAPTPSPV PSFSPAKSAT SVEVPPPSSP VSNPSPEYTG
   541  LSTTGAMQSY TWSLTYTVTT AAGSPAENSQ QLPCMRNTHV PSSSVTHRIP VYPHREEHGY
   601  TGSYNYGSYG NQHPHPMQSQ YPALPHDTAI SGPLHYAPYH RSSAQYPFNS PTSRMEPCLM
   661  SSTPRLHPTP VTPRWPEVPS ANTCYTSPSV HSARYGNSSD MYTPLTTRRN SEYEHMQHFP
   721  GFAYINGEAS TGWAK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RFX4 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

70 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RFX4.

Disease | ImmuneIEDB

Conditions an epitope on RFX4 was assayed in.

• narcolepsy T cell

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)

0.15

gnomAD pLI

1

gnomAD missense Z

2.23

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cilium assembly
• negative regulation of smoothened signaling pathway
• positive regulation of transcription by RNA polymerase II
• regulation of protein processing
• regulation of transcription by RNA polymerase II
• spinal cord dorsal/ventral patterning
• telencephalon development

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• 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

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• DNA-binding RFX-type winged-helix domain
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• RFX-like DNA-binding protein
• RFX1-4/6/8-like, BCD domain
• RFX DNA-binding domain
• RFX BCD domain

KeywordsUniProt

• Activator
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of RFX4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GPS2