AC T05441
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ID T05441
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DT 21.02.2003 (created); oke.
DT 01.09.2014 (updated); spk.
CO Copyright (C), QIAGEN.
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FA RFXANK
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SY RFX-B.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G005107 RFXANK; HGNC: RFXANK.
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CL C0064; unchar-DBD; 0.0.3.0.1.1.
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SZ 260 AA; 28.1 kDa (calc.).
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SQ MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSS
SQ PQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKP
SQ DERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERD
SQ VDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQ
SQ VIENHILKLFQSNLVPADPE
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SC Swiss-Prot#O14593
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FT 12 68 
PEST-homology domain [2].
FT 69 123 
required for DNA binding by the RFX complex [2].
FT 89 242 
PS50297; ANK_REP_REGION.
FT 122 155 
ankyrin repeat 1, ank 1 [1].
FT 123 152 
SM00248; ANK_2a.
FT 123 155 
PF00023; Ankyrin repeat.
FT 123 155 
PS50088; ANK_REPEAT.
FT 156 188 
ankyrin repeat 2, ank 2 [1].
FT 156 185 
SM00248; ANK_2a.
FT 156 188 
PF00023; Ankyrin repeat.
FT 156 188 PS50088; ANK_REPEAT.
FT 189 222 ankyrin repeat 3, ank 3 [1].
FT 189 218 SM00248; ANK_2a.
FT 189 221 PF00023; Ankyrin repeat.
FT 189 221 PS50088; ANK_REPEAT.
FT 222 251 SM00248; ANK_2a.
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SF subunit of RFX complex T05444 [1];
SF has no homology with two other subunits;
SF region between PEST domain and ankyrin repeats may be involved in stabilization of the RFX complex or may bind directly to DNA [2];
SF ankyrin repeats are required for interaction with two other subunits, RFX5 T01672 and RFXAP T05443 [2];
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FF important regulator of MHC class II gene expression, gene is mutated in MHC class II deficiency (complementation group B) [1] [3];
FF within the RFX complex, interacts directly with CIITA T05450 [4];
FF mediates interaction of the RFX complex and NF-Y, interacts directly with NF-YA and NF-YB [5];
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IN T05450 C2TA; human, Homo sapiens.
IN T08522 HDAC4-isoform1; human, Homo sapiens.
IN T01804 NF-YA; human, Homo sapiens.
IN T02478 NF-YC-isoform3; human, Homo sapiens.
IN T08521 rfx5-isoform1; human, Homo sapiens.
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MX M00975 V$RFX_Q6.
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DR TRANSPATH: MO000034779.
DR UniProtKB: O14593-1;
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RN [1]; RE0022532.
RX PUBMED: 9806546.
RA Masternak K., Barras E., Zufferey M., Conrad B., Corthals G., Aebersold R., Sanchez J. C., Hochstrasser D. F., Mach B., Reith W.
RT A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
RL Nat. Genet. 20:273-277 (1998).
RN [2]; RE0022539.
RX PUBMED: 10938133.
RA DeSandro A. M., Nagarajan U. M., Boss J. M.
RT Associations and interactions between bare lymphocyte syndrome factors.
RL Mol. Cell. Biol. 20:6587-6599 (2000).
RN [3]; RE0022542.
RX PUBMED: 10072068.
RA Nagarajan U. M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J. M.
RT RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
RL Immunity 10:153-162 (1999).
RN [4]; RE0022578.
RX PUBMED: 11003667.
RA Hake S. B., Masternak K., Kammerbauer C., Janzen C., Reith W., Steimle V.
RT 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.
RL Mol. Cell. Biol. 20:7716-7725 (2000).
RN [5]; RE0022593.
RX PUBMED: 12101253.
RA Jabrane-Ferrat N., Nekrep N., Tosi G., Esserman L. J., Peterlin B. M.
RT Major histocompatibility complex class II transcriptional platform: assembly of nuclear factor Y and regulatory factor X (RFX) on DNA requires RFX5 dimers.
RL Mol. Cell. Biol. 22:5616-5625 (2002).
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