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O14593 (RFXK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 16, 2012. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA-binding protein RFXANK
Alternative name(s):
Ankyrin repeat family A protein 1
Regulatory factor X subunit B
Short name=RFX-B
Regulatory factor X-associated ankyrin-containing protein
Gene names
Name:RFXANK
Synonyms:ANKRA1, RFXB
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length260 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes.

Subunit structure

The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP 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 MHC2TA to form an active transcriptional complex. Ref.9

Subcellular location

Nucleus.

Tissue specificity

Ubiquitous.

Domain

The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP.

Involvement in disease

Defects in RFXANK 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. Ref.1 Ref.2 Ref.10

Sequence similarities

Contains 5 ANK repeats.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
SCID
   DomainANK repeat
Repeat
   LigandDNA-binding
   Molecular functionActivator
   PTMPhosphoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological processtranscription, DNA-dependent

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionDNA binding

Traceable author statement Ref.1. Source: ProtInc

sequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.1. Source: ProtInc

transcription cofactor activity

Traceable author statement Ref.2. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O14593-1)

Also known as: Long;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O14593-2)

Also known as: RFX-B-delta5;

The sequence of this isoform differs from the canonical sequence as follows:
     63-63: Missing.
     91-113: SLSIHQLAAQGELDQLKEHLRKG → C

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 260260DNA-binding protein RFXANK
PRO_0000067049

Regions

Repeat89 – 11830ANK 1
Repeat123 – 15230ANK 2
Repeat156 – 18530ANK 3
Repeat189 – 21830ANK 4
Repeat222 – 25130ANK 5

Natural variations

Alternative sequence631Missing in isoform 2.
VSP_000283
Alternative sequence91 – 11323SLSIH…HLRKG → C in isoform 2.
VSP_000284
Natural variant481E → D.
Corresponds to variant rs34282046 [ dbSNP | Ensembl ].
VAR_048311
Natural variant1951L → P in BLS2. Ref.10
VAR_009941
Natural variant2511Q → E.
Corresponds to variant rs1802498 [ dbSNP | Ensembl ].
VAR_014472

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified July 15, 1999. Version 2.
Checksum: 6280B490F54816D2

FASTA26028,102
        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

« Hide

Isoform 2 (RFX-B-delta5) [UniParc].

Checksum: 07F695BE877861A2
Show »

FASTA23725,580

References

« Hide 'large scale' references
[1]"A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients."
Masternak K., Barras E., Zufferey M., Conrad B., Corthals G., Aebersold R., Sanchez J.-C., Hochstrasser D.F., Mach B., Reith W.
Nat. Genet. 20:273-277(1998) [PubMed: 9806546] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MASS SPECTROMETRY, INVOLVEMENT IN BLS2.
Tissue: B-cell.
[2]"RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency."
Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.
Immunity 10:153-162(1999) [PubMed: 10072068] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), PROTEIN SEQUENCE OF 79-95; 180-198; 100-210 AND 238-248, INVOLVEMENT IN BLS2.
Tissue: Lymphoblast.
[3]Erratum
Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.
Immunity 10:399-399(1999)
[4]"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. expand/collapse author list , Gu J., Chen S.-J., Chen Z.
Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Umbilical cord blood.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"The DNA sequence and biology of human chromosome 19."
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. expand/collapse author list , 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.
Nature 428:529-535(2004) [PubMed: 15057824] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[9]"Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex."
Laird K.M., Briggs L.L., Boss J.M., Summers M.F., Garvie C.W.
J. Mol. Biol. 403:40-51(2010) [PubMed: 20732328] [Abstract]
Cited for: SUBUNIT.
[10]"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."
Nagarajan U.M., Peijnenburg A., Gobin S.J., Boss J.M., van den Elsen P.J.
J. Immunol. 164:3666-3674(2000) [PubMed: 10725724] [Abstract]
Cited for: VARIANT BLS2 PRO-195.
+Additional computationally mapped references.

Web resources

RFXANKbase

RFXANK mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF094760 mRNA. Translation: AAC69883.1.
AF105427 mRNA. Translation: AAD17972.1.
AF105428 mRNA. Translation: AAD17973.1.
AF077196 mRNA. Translation: AAD26991.1.
CR542199 mRNA. Translation: CAG46996.1.
AC003110 Genomic DNA. Translation: AAB86654.1.
CH471106 Genomic DNA. Translation: EAW84795.1.
BC114563 mRNA. Translation: AAI14564.1.
IPIIPI00022520.
IPI00939590.
RefSeqNP_003712.1. NM_003721.2.
NP_604389.1. NM_134440.1.
UniGeneHs.153629.
Hs.296776.

3D structure databases

ProteinModelPortalO14593.
SMRO14593. Positions 24-254.
ModBaseSearch...

Protein-protein interaction databases

STRINGO14593.

Proteomic databases

PRIDEO14593.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303088; ENSP00000305071; ENSG00000064490.
ENST00000407360; ENSP00000384572; ENSG00000064490.
GeneID8625.
KEGGhsa:8625.
UCSCuc002nls.3. human.
uc002nlt.3. human.

Organism-specific databases

CTD8625.
GeneCardsGC19P019303.
H-InvDBHIX0014935.
HGNCHGNC:9987. RFXANK.
MIM209920. phenotype.
603200. gene.
neXtProtNX_O14593.
Orphanet572. Immunodeficiency by defective expression of HLA class 2.
PharmGKBPA34357.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
GeneTreeENSGT00390000009838.
HOGENOMHOG000294108.
HOVERGENHBG017718.
InParanoidO14593.
KOK08062.
OMALFPCTPE.
PhylomeDBO14593.

Enzyme and pathway databases

Pathway_Interaction_DBhdac_classii_pathway. Signaling events mediated by HDAC Class II.

Gene expression databases

ArrayExpressO14593.
BgeeO14593.
CleanExHS_RFXANK.
GenevestigatorO14593.
GermOnlineENSG00000064490. Homo sapiens.

Family and domain databases

Gene3DG3DSA:1.25.40.20. ANK. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR017362. DNA-bd_RFXANK.
[Graphical view]
PfamPF00023. Ank. 3 hits.
[Graphical view]
PIRSFPIRSF038034. DNA-binding_RFXANK. 1 hit.
SMARTSM00248. ANK. 4 hits.
[Graphical view]
SUPFAMSSF48403. ANK. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio32333.
SOURCESearch...

Entry information

Entry nameRFXK_HUMAN
AccessionPrimary (citable) accession number: O14593
Secondary accession number(s): O95839, Q6FGA8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: May 16, 2012
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents