ID   RFXAP_HUMAN             Reviewed;         272 AA.
AC   O00287; B2R9T8; Q5VZM6; Q8TC40;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   01-JUL-1997, sequence version 1.
DT   25-JAN-2012, entry version 87.
DE   RecName: Full=Regulatory factor X-associated protein;
DE            Short=RFX-associated protein;
DE   AltName: Full=RFX DNA-binding complex 36 kDa subunit;
GN   Name=RFXAP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], PARTIAL PROTEIN SEQUENCE, AND
RP   INVOLVEMENT IN BLS2.
RX   MEDLINE=97224131; PubMed=9118943; DOI=10.1093/emboj/16.5.1045;
RA   Durand B., Sperisen P., Emery P., Barras E., Zufferey M., Mach B.,
RA   Reith W.;
RT   "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in
RT   MHC class II deficiency.";
RL   EMBO J. 16:1045-1055(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Thalamus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057823; DOI=10.1038/nature02379;
RA   Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA   Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
RA   Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,
RA   Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R.,
RA   Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
RA   Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
RA   Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
RA   Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
RA   Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L.,
RA   Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
RA   Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
RA   Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
RA   Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M.,
RA   King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A.,
RA   Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
RA   Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA   Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
RA   Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
RA   Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
RA   Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
RA   Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M.,
RA   Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
RT   "The DNA sequence and analysis of human chromosome 13.";
RL   Nature 428:522-528(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   PARTIAL PROTEIN SEQUENCE, MASS SPECTROMETRY, AND INVOLVEMENT IN BLS2.
RC   TISSUE=Lymphoblast;
RX   MEDLINE=99170284; PubMed=10072068; DOI=10.1016/S1074-7613(00)80016-3;
RA   Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A.,
RA   Boss J.M.;
RT   "RFX-B is the gene responsible for the most common cause of the bare
RT   lymphocyte syndrome, an MHC class II immunodeficiency.";
RL   Immunity 10:153-162(1999).
RN   [7]
RP   ERRATUM.
RA   Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A.,
RA   Boss J.M.;
RL   Immunity 10:399-399(1999).
RN   [8]
RP   STRUCTURE BY NMR OF 214-272, SUBUNIT, AND DOMAIN C-TERMINAL.
RX   PubMed=20732328; DOI=10.1016/j.jmb.2010.08.025;
RA   Laird K.M., Briggs L.L., Boss J.M., Summers M.F., Garvie C.W.;
RT   "Solution structure of the heterotrimeric complex between the
RT   interaction domains of RFX5 and RFXAP from the RFX gene regulatory
RT   complex.";
RL   J. Mol. Biol. 403:40-51(2010).
CC   -!- FUNCTION: Part of the RFX complex that binds to the X-box of MHC
CC       II promoters.
CC   -!- SUBUNIT: The RFX heterotetrameric complex consists of 2 molecules
CC       of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit
CC       representing a separate complementation group. RFX forms
CC       cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX
CC       associates with CIITA to form an active transcriptional complex.
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- TISSUE SPECIFICITY: Ubiquitous.
CC   -!- DOMAIN: The C-terminal domain is necessary for the RFX complex
CC       formation.
CC   -!- PTM: Phosphorylated.
CC   -!- DISEASE: Defects in RFXAP are a cause of bare lymphocyte syndrome
CC       type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II
CC       deficiency or HLA class II-deficient combined immunodeficiency.
CC       BLS2 is a severe combined immunodeficiency disease with early
CC       onset. It is characterized by a profound defect in constitutive
CC       and interferon-gamma induced MHC II expression, absence of
CC       cellular and humoral T-cell response to antigen challenge,
CC       hypogammaglobulinemia and impaired antibody production. The
CC       consequence include extreme susceptibility to viral, bacterial and
CC       fungal infections.
CC   -!- WEB RESOURCE: Name=RFXAPbase; Note=RFXAP mutation db;
CC       URL="http://bioinf.uta.fi/RFXAPbase/";
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DR   EMBL; Y12812; CAA73338.1; -; Genomic_DNA.
DR   EMBL; AK313912; BAG36635.1; -; mRNA.
DR   EMBL; AL159973; CAH71159.1; -; Genomic_DNA.
DR   EMBL; CH471075; EAX08575.1; -; Genomic_DNA.
DR   EMBL; BC026088; AAH26088.1; -; mRNA.
DR   IPI; IPI00010890; -.
DR   RefSeq; NP_000529.1; NM_000538.3.
DR   UniGene; Hs.24422; -.
DR   PDB; 2KW3; NMR; -; C=214-272.
DR   PDBsum; 2KW3; -.
DR   ProteinModelPortal; O00287; -.
DR   SMR; O00287; 214-272.
DR   IntAct; O00287; 1.
DR   STRING; O00287; -.
DR   PRIDE; O00287; -.
DR   Ensembl; ENST00000255476; ENSP00000255476; ENSG00000133111.
DR   GeneID; 5994; -.
DR   KEGG; hsa:5994; -.
DR   UCSC; uc001uvu.1; human.
DR   CTD; 5994; -.
DR   GeneCards; GC13P037393; -.
DR   HGNC; HGNC:9988; RFXAP.
DR   MIM; 209920; phenotype.
DR   MIM; 601861; gene.
DR   neXtProt; NX_O00287; -.
DR   Orphanet; 572; Immunodeficiency by defective expression of HLA class 2.
DR   PharmGKB; PA34358; -.
DR   eggNOG; prNOG19776; -.
DR   GeneTree; ENSGT00390000006573; -.
DR   HOGENOM; HBG443606; -.
DR   HOVERGEN; HBG073517; -.
DR   InParanoid; O00287; -.
DR   OMA; LEDEETH; -.
DR   OrthoDB; EOG4NZTVQ; -.
DR   PhylomeDB; O00287; -.
DR   NextBio; 23355; -.
DR   ArrayExpress; O00287; -.
DR   Bgee; O00287; -.
DR   CleanEx; HS_RFXAP; -.
DR   Genevestigator; O00287; -.
DR   GermOnline; ENSG00000133111; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0003677; F:DNA binding; TAS:ProtInc.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; NAS:ProtInc.
DR   GO; GO:0003713; F:transcription coactivator activity; TAS:ProtInc.
DR   KO; K08063; -.
PE   1: Evidence at protein level;
KW   3D-structure; Complete proteome; Direct protein sequencing;
KW   DNA-binding; Nucleus; Phosphoprotein; Reference proteome; SCID.
FT   CHAIN         1    272       Regulatory factor X-associated protein.
FT                                /FTId=PRO_0000097310.
FT   REGION      214    270       C-terminal domain.
FT   MOTIF       163    178       Nuclear localization signal (Potential).
FT   COMPBIAS     38     41       Poly-Ala.
FT   COMPBIAS    171    178       Poly-Lys.
FT   CONFLICT      5      5       G -> S (in Ref. 5; AAH26088).
FT   HELIX       226    237
FT   HELIX       242    258
SQ   SEQUENCE   272 AA;  28232 MW;  A6757F5F03D5F905 CRC64;
     MEAQGVAEGA GPGAASGVPH PAALAPAAAP TLAPASVAAA ASQFTLLVMQ PCAGQDEAAA
     PGGSVGAGKP VRYLCEGAGD GEEEAGEDEA DLLDTSDPPG GGESAASLED LEDEETHSGG
     EGSSGGARRR GSGGGSMSKT CTYEGCSETT SQVAKQRKPW MCKKHRNKMY KDKYKKKKSD
     QALNCGGTAS TGSAGNVKLE ESADNILSIV KQRTGSFGDR PARPTLLEQV LNQKRLSLLR
     SPEVVQFLQK QQQLLNQQVL EQRQQQFPGT SM
//