RFXANK

Regulatory factor X-associated ankyrin-containing protein, also known as RFXANK, is a human gene.cite web | title = Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8625| accessdate = ]

PBB_Summary
section_title =
summary_text = Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity.cite web | title = Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8625| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Masternak K, Barras E, Zufferey M, "et al." |title=A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. |journal=Nat. Genet. |volume=20 |issue= 3 |pages= 273–7 |year= 1998 |pmid= 9806546 |doi= 10.1038/3081
*cite journal | author=Nagarajan UM, Louis-Plence P, DeSandro A, "et al." |title=RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. |journal=Immunity |volume=10 |issue= 2 |pages= 153–62 |year= 1999 |pmid= 10072068 |doi=
*cite journal | author=Lin JH, Makris A, McMahon C, "et al." |title=The ankyrin repeat-containing adaptor protein Tvl-1 is a novel substrate and regulator of Raf-1. |journal=J. Biol. Chem. |volume=274 |issue= 21 |pages= 14706–15 |year= 1999 |pmid= 10329666 |doi=
*cite journal | author=Nagarajan UM, Peijnenburg A, Gobin SJ, "et al." |title=Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. |journal=J. Immunol. |volume=164 |issue= 7 |pages= 3666–74 |year= 2000 |pmid= 10725724 |doi=
*cite journal | author=Wiszniewski W, Fondaneche MC, Lambert N, "et al." |title=Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. |journal=Immunogenetics |volume=51 |issue= 4-5 |pages= 261–7 |year= 2000 |pmid= 10803838 |doi=
*cite journal | author=Nekrep N, Jabrane-Ferrat N, Peterlin BM |title=Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. |journal=Mol. Cell. Biol. |volume=20 |issue= 12 |pages= 4455–61 |year= 2000 |pmid= 10825209 |doi=
*cite journal | author=Zhang QH, Ye M, Wu XY, "et al." |title=Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. |journal=Genome Res. |volume=10 |issue= 10 |pages= 1546–60 |year= 2001 |pmid= 11042152 |doi=
*cite journal | author=Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM |title=Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. |journal=Mol. Cell. Biol. |volume=21 |issue= 16 |pages= 5566–76 |year= 2001 |pmid= 11463838 |doi= 10.1128/MCB.21.16.5566-5576.2001
*cite journal | author=Dimberg J, Hugander A, Häll-Karlsson BM, Sirsjö A |title=RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas. |journal=Int. J. Mol. Med. |volume=9 |issue= 3 |pages= 213–6 |year= 2002 |pmid= 11836625 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Wiszniewski W, Fondaneche MC, Louise-Plence P, "et al." |title=Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. |journal=Immunogenetics |volume=54 |issue= 11 |pages= 747–55 |year= 2003 |pmid= 12618906 |doi= 10.1007/s00251-002-0521-1
*cite journal | author=Grimwood J, Gordon LA, Olsen A, "et al." |title=The DNA sequence and biology of human chromosome 19. |journal=Nature |volume=428 |issue= 6982 |pages= 529–35 |year= 2004 |pmid= 15057824 |doi= 10.1038/nature02399
*cite journal | author=Wang AH, Grégoire S, Zika E, "et al." |title=Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. |journal=J. Biol. Chem. |volume=280 |issue= 32 |pages= 29117–27 |year= 2005 |pmid= 15964851 |doi= 10.1074/jbc.M500295200
*cite journal | author=Krawczyk M, Masternak K, Zufferey M, "et al." |title=New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study. |journal=Mol. Cell. Biol. |volume=25 |issue= 19 |pages= 8607–18 |year= 2005 |pmid= 16166641 |doi= 10.1128/MCB.25.19.8607-8618.2005
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134

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