RFX1

Source: Wikipedia, the free encyclopedia.
RFX1
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_002918

NM_009055

RefSeq (protein)

NP_002909

NP_033081

Location (UCSC)Chr 19: 13.96 – 14.01 MbChr 8: 84.79 – 84.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

MHC class II regulatory factor RFX1 is a protein that, in humans, is encoded by the RFX1 gene located on the short arm of chromosome 19.[5][6][7]

Structure

The RFX1 gene is a member of the regulatory factor X (RFX) gene family, which encodes

C-terminal region of the sequence.[8] Apart from the five conserved domains, the RFX proteins diverge significantly. The DNA binding and dimerization domains of the RFX family proteins show no similarities to the other domains with the same functions in other proteins.[6]

Species distribution

The RFX protein family is conserved in S. pombe, S. cerevisiae, C. elegans, mice and humans.[9] There are seven known RFX proteins in humans, five in mice, and one in C. elegans as well as one in each of the two species of yeast.[9][10]

Function

The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the Xboxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes.[7] The RFX proteins were originally cloned and characterized due to their high affinity for a cis-acting promoter sequence, called the Xbox, found in all MHC class II genes.[6]

Levels of mRNA encoding this protein as well as RFX2 and RFX3 are found to be consistently elevated in the

testis and are variable in other tissues throughout the body.[6]

RFX1 contains a C-terminal sequence with no apparent homology to other RFX proteins. This C-terminal tail contains an acidic region that is thought to aid in crossing the nuclear membrane. Two major functions are hypothesized to this exist for this domain: a contribution to the

nuclear localization signal (NLS) as well as the contradictory down-regulation of DNA binding as well as nuclear association. These two functions were originally identified through sequence mutations and translational fusions with gfp (green fluorescent protein) and remain to be confirmed.[11]

Interactions

RFX1 has been shown to

References

  1. ^ a b c ENSG00000288283 GRCh38: Ensembl release 89: ENSG00000132005, ENSG00000288283Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031706Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 1505960
    .
  6. ^ .
  7. ^ a b "Entrez Gene: RFX1 regulatory factor X, 1 (influences HLA class II expression)".
  8. PMID 8600444
    .
  9. ^ .
  10. .
  11. .

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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