RFXANK

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RFXANK
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RFXANK, ANKRA1, BLS, F14150_1, RFX-B, regulatory factor X associated ankyrin containing protein
External IDs MGI: 1333865 HomoloGene: 2760 GeneCards: 8625
RNA expression pattern
PBB GE RFXANK 202758 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001278727
NM_001278728
NM_003721
NM_134440

NM_001025589
NM_011266

RefSeq (protein)

NP_001265656.1
NP_001265657.1
NP_003712.1
NP_604389.1

NP_001020760.1
NP_035396.1

Location (UCSC) Chr 19: 19.19 – 19.2 Mb Chr 8: 70.13 – 70.14 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.[1][2][3]

Function[edit]

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.[3]

Interactions[edit]

RFXANK has been shown to interact with RFXAP[4][5] and CIITA.[4][6]

References[edit]

  1. ^ Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W (Nov 1998). "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". Nature Genetics 20 (3): 273–7. doi:10.1038/3081. PMID 9806546. 
  2. ^ Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM (Feb 1999). "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency". Immunity 10 (2): 153–62. doi:10.1016/S1074-7613(00)80016-3. PMID 10072068. 
  3. ^ a b "Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein". 
  4. ^ a b Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM (Aug 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular Biology 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. PMC 87278. PMID 11463838. 
  5. ^ Nekrep N, Jabrane-Ferrat N, Peterlin BM (Jun 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Molecular and Cellular Biology 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209. 
  6. ^ Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V (Oct 2000). "CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation". Molecular and Cellular Biology 20 (20): 7716–25. doi:10.1128/MCB.20.20.7716-7725.2000. PMC 86349. PMID 11003667. 

Further reading[edit]

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