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UniProtKB/Swiss-Prot entry O14593


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

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Entry information
Entry name RFXK_HUMAN
Primary accession number O14593
Secondary accession numbers O95839 Q6FGA8
Integrated into Swiss-Prot on July 15, 1999
Sequence was last modified on July 15, 1999 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 84)
Name and origin of the protein
Protein name DNA-binding protein RFXANK
Synonyms Regulatory factor X subunit B
RFX-B
Regulatory factor X-associated ankyrin-containing protein
Ankyrin repeat family A protein 1
Gene name
Name: RFXANK
Synonyms: ANKRA1, RFXB
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 [MRNA], MASS SPECTROMETRY, AND INVOLVEMENT IN BLS2.
TISSUE=B-cell;
DOI=10.1038/3081; PubMed=9806546 [NCBI, ExPASy, EBI, Israel, Japan]
Masternak K., Barras E., Zufferey M., Conrad B., Corthals G., Aebersold R., Sanchez J.-C., Hochstrasser D.F., Mach B., Reith W.;
"A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.";
Nat. Genet. 20:273-277(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], PROTEIN SEQUENCE OF 79-95; 180-198; 100-210 AND 238-248, 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).
[3]
ERRATUM.
Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.;
Immunity 10:399-399(1999).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
Zhou J., Guan Z., Gu J., Ye M., Fu G., Zhang Q., Xu S., He K., Chen S., Mao M., Chen Z.;
"Hematopoiesis-derived ankyrin-like gene.";
Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02399; PubMed=15057824 [NCBI, ExPASy, EBI, Israel, Japan]
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[7]
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.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
[9]
VARIANT BLS2 PRO-195.
PubMed=10725724 [NCBI, ExPASy, EBI, Israel, Japan]
Nagarajan U.M., Peijnenburg A., Gobin S.J., Boss J.M., van den Elsen P.J.;
"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.";
J. Immunol. 164:3666-3674(2000).
Comments
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
AF094760; AAC69883.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF105427; AAD17972.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF105428; AAD17973.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF077196; AAD26991.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CR542199; CAG46996.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC003110; AAB86654.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471106; EAW84795.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC114563; AAI14564.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00022520; -.
IPI00220485; -.
RefSeq NP_003712.1; -.
NP_604389.1; -.
UniGene Hs.153629
3D structure databases
HSSP P42773; 1BU9. [HSSP ENTRY / PDB]
ModBase O14593.
Protein-protein interaction databases
IntAct O14593; 11.
Enzyme and pathway databases
Pathway_Interaction_DB hdac_classii_pathway; Signaling events mediated by HDAC Class II.
Organism-specific databases
GeneCards GC19P019164; -.
H-InvDB HIX0014935; -.
HGNC HGNC:9987; RFXANK.
GenAtlas RFXANK.
MIM 209920; phenotype. [NCBI / EBI]
603200; gene. [NCBI / EBI]
Orphanet 572; Immunodeficiency by defective expression of HLA class 2.
PharmGKB PA34357; -.
Gene expression databases
ArrayExpress O14593; -.
Bgee O14593; -.
CleanEx HS_RFXANK; -.
GermOnline ENSG00000064490; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0003712; Molecular function: transcription cofactor activity (traceable author statement from ProtInc).
GO:0003700; Molecular function: transcription factor activity (non-traceable author statement from ProtInc).
GO:0006355; Biological process: regulation of transcription, DNA-dependent (inferred from electronic annotation from UniProtKB-KW).
GO:0006350; Biological process: transcription (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR002110; ANK.
IPR017362; DNA-bd_RFXANK.
Graphical view of domain structure.
Gene3D G3DSA:1.25.40.20; ANK; 1.
Pfam PF00023; Ank; 4.
Pfam graphical view of domain structure.
PIRSF PIRSF038034; DNA-binding_RFXANK; 1.
SMART SM00248; ANK; 4.
SMART graphical view of domain structure.
PROSITE PS50297; ANK_REP_REGION; 1.
PS50088; ANK_REPEAT; 3.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE O14593; -.
Genome annotation databases
Ensembl ENSG00000064490; Homo sapiens. [Contig view]
GeneID 8625; -.
KEGG hsa:8625; -.
Phylogenomic databases
HOGENOM O14593; -.
HOVERGEN O14593; -.
OMA O14593; CTPEPVN.
Other
NextBio 32333; -.
SOURCE RFXANK; Homo sapiens.
ProtoNet O14593.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Activator; Alternative splicing; ANK repeat; Direct protein sequencing; Disease mutation; DNA-binding; Nucleus; Phosphoprotein; Polymorphism; Repeat; SCID; Transcription; Transcription regulation.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   260  260     DNA-binding protein RFXANK. PRO_0000067049
REPEAT   89   118  30     ANK 1. 
REPEAT   123   152  30     ANK 2. 
REPEAT   156   185  30     ANK 3. 
REPEAT   189   218  30     ANK 4. 
REPEAT   222   251  30     ANK 5. 
VAR_SEQ   63    63        Missing (in isoform RFX-B-delta5). VSP_000283
VAR_SEQ   91   113        SLSIHQLAAQGELDQLKEHLRKG -> C (in isoform RFX-B-delta5). VSP_000284
VARIANT   48    48  1     E -> D (in dbSNP:rs34282046 [NCBI]). VAR_048311 
VARIANT   195   195  1     L -> P (in BLS2). VAR_009941 
VARIANT   251   251  1     Q -> E (in dbSNP:rs1802498 [NCBI]). VAR_014472 
Sequence information
Length: 260 AA [This is the length of the unprocessed precursor] Molecular weight: 28102 Da [This is the MW of the unprocessed precursor] CRC64: 6280B490F54816D2 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MELTQPAEDL IQTQQTPASE LGDPEDPGEE AADGSDTVVL SLFPCTPEPV NPEPDASVSS 

        70         80         90        100        110        120 
PQAGSSLKHS TTLTNRQRGN EVSALPATLD SLSIHQLAAQ GELDQLKEHL RKGDNLVNKP 

       130        140        150        160        170        180 
DERGFTPLIW ASAFGEIETV RFLLEWGADP HILAKERESA LSLASTGGYT DIVGLLLERD 

       190        200        210        220        230        240 
VDINIYDWNG GTPLLYAVRG NHVKCVEALL ARGADLTTEA DSGYTPMDLA VALGYRKVQQ 

       250        260 
VIENHILKLF QSNLVPADPE 

O14593 in FASTA format

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