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UniProtKB/Swiss-Prot entry O00287


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name RFXAP_HUMAN
Primary accession number O00287
Secondary accession numbers B2R9T8 Q5VZM6 Q8TC40
Integrated into Swiss-Prot on July 15, 1998
Sequence was last modified on July 1, 1997 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 63)
Name and origin of the protein
Protein name Regulatory factor X-associated protein
Synonyms RFX-associated protein
RFX DNA-binding complex 36 kDa subunit
Gene name
Name: RFXAP
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], PARTIAL PROTEIN SEQUENCE, AND INVOLVEMENT IN BLS2.
DOI=10.1093/emboj/16.5.1045; PubMed=9118943 [NCBI, ExPASy, EBI, Israel, Japan]
Durand B., Sperisen P., Emery P., Barras E., Zufferey M., Mach B., Reith W.;
"RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.";
EMBO J. 16:1045-1055(1997).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Thalamus;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PARTIAL PROTEIN SEQUENCE, MASS SPECTROMETRY, AND INVOLVEMENT IN BLS2.
TISSUE=Lymphoblast;
DOI=10.1016/S1074-7613(00)80016-3; PubMed=10072068 [NCBI, ExPASy, EBI, Israel, Japan]
Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.;
"RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.";
Immunity 10:153-162(1999).
[7]
ERRATUM.
Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.;
Immunity 10:399-399(1999).
Comments
  • FUNCTION: Part of the RFX complex that binds to the X-box of MHC II promoters.
  • SUBUNIT: RFX consists of at least 3 different subunits; RFXAP, RFX5 and RFX-B/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex.
  • SUBCELLULAR LOCATION: Nucleus.
  • TISSUE SPECIFICITY: Ubiquitous.
  • PTM: Phosphorylated.
  • DISEASE: Defects in RFXAP are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
  • WEB RESOURCE: Name=RFXAPbase; Note=RFXAP mutation db; URL="http://bioinf.uta.fi/RFXAPbase/";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
Y12812; CAA73338.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK313912; BAG36635.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL159973; CAH71159.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471075; EAX08575.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC026088; AAH26088.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00010890; -.
RefSeq NP_000529.1; -.
UniGene Hs.24422
3D structure databases
ModBase O00287.
Organism-specific databases
GeneCards GC13P036291; -.
H-InvDB HIX0011238; -.
HGNC HGNC:9988; RFXAP.
GenAtlas RFXAP.
MIM 209920; phenotype. [NCBI / EBI]
601861; gene. [NCBI / EBI]
Orphanet 572; Immunodeficiency by defective expression of HLA class 2.
PharmGKB PA34358; -.
Gene expression databases
ArrayExpress O00287; -.
Bgee O00287; -.
CleanEx HS_RFXAP; -.
GermOnline ENSG00000133111; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0003713; Molecular function: transcription coactivator activity (traceable author statement from ProtInc).
GO:0003700; Molecular function: transcription factor activity (non-traceable author statement from ProtInc).
QuickGo view.
Proteomic databases
PRIDE O00287; -.
Genome annotation databases
Ensembl ENSG00000133111; Homo sapiens. [Contig view]
GeneID 5994; -.
KEGG hsa:5994; -.
Phylogenomic databases
HOGENOM O00287; -.
HOVERGEN O00287; -.
OMA O00287; LEDEETH.
Other
NextBio 23355; -.
SOURCE RFXAP; Homo sapiens.
ProtoNet O00287.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Direct protein sequencing; DNA-binding; Nucleus; Phosphoprotein; SCID.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   272  272     Regulatory factor X-associated protein. PRO_0000097310
MOTIF   163   178  16     Nuclear localization signal (Potential). 
COMPBIAS   38    41  4     Poly-Ala. 
COMPBIAS   171   178  8     Poly-Lys. 
CONFLICT   5     5        G -> S (in Ref. 5; AAH26088). 
Sequence information
Length: 272 AA [This is the length of the unprocessed precursor] Molecular weight: 28232 Da [This is the MW of the unprocessed precursor] CRC64: A6757F5F03D5F905 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MEAQGVAEGA GPGAASGVPH PAALAPAAAP TLAPASVAAA ASQFTLLVMQ PCAGQDEAAA 

        70         80         90        100        110        120 
PGGSVGAGKP VRYLCEGAGD GEEEAGEDEA DLLDTSDPPG GGESAASLED LEDEETHSGG 

       130        140        150        160        170        180 
EGSSGGARRR GSGGGSMSKT CTYEGCSETT SQVAKQRKPW MCKKHRNKMY KDKYKKKKSD 

       190        200        210        220        230        240 
QALNCGGTAS TGSAGNVKLE ESADNILSIV KQRTGSFGDR PARPTLLEQV LNQKRLSLLR 

       250        260        270 
SPEVVQFLQK QQQLLNQQVL EQRQQQFPGT SM 

O00287 in FASTA format

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